ClinVar Miner

Variants from Department of Pathology and Laboratory Medicine, Sinai Health System

Location: Canada  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2922 2001 14377 4096 1428 24812

Gene and significance breakdown #

Total genes and gene combinations: 3623
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 354 37 574 347 143 1455
PKD1 274 34 547 351 137 1343
BRCA1 228 31 290 181 67 796
MSH6 145 23 335 169 23 694
APC 181 10 232 111 38 571
MSH2 159 26 238 108 18 549
ATM 59 22 273 158 31 543
MLH1 128 30 197 88 19 461
PMS2 87 19 191 108 40 445
POLE 5 1 210 147 37 400
PALB2 53 9 166 99 11 338
ATM, C11orf65 39 9 167 81 8 304
CDH1 17 6 125 121 12 281
CHEK2 35 16 165 45 4 264
BRIP1 22 6 146 69 6 249
BARD1 19 3 148 62 7 239
PKHD1 22 16 74 37 49 198
TTN 0 10 149 4 5 168
STK11 9 7 63 82 5 166
POLD1 1 0 69 69 23 162
TP53 20 13 60 61 6 160
PKD2 74 6 43 18 12 153
MUTYH 33 9 78 29 6 150
BRCA1, LOC126862571 38 1 49 26 11 125
MLH3 3 0 67 36 18 124
MSH3 5 2 62 35 3 107
RAD51D, RAD51L3-RFFL 7 4 53 32 1 97
TSC2 11 3 24 30 28 96
NBN 6 2 50 31 6 95
RAD51C 13 8 42 17 6 86
NF1 3 42 8 19 12 84
GALNT12 0 0 43 24 10 77
PTEN 9 9 23 27 8 75
CCDST, FLG 5 22 29 6 0 62
AOPEP, FANCC 2 4 33 16 6 61
RNF43 0 0 32 19 10 61
PLEC 0 0 55 2 0 57
CTNNA1 0 1 25 21 9 56
BMPR1A 1 2 27 18 6 54
​intergenic 6 9 28 5 3 51
SDHA 3 3 14 15 16 51
FAT1 0 0 31 14 3 48
PTCH1 2 3 11 18 14 48
RYR1 3 4 41 0 0 48
VWF 1 5 42 0 0 48
ZNF469 0 1 41 6 0 48
DHFR, MSH3 0 1 16 15 15 47
NTHL1 7 0 22 14 1 44
CFTR 16 5 21 1 0 43
TSC1 2 2 8 16 15 43
ABCA4 7 6 26 1 2 42
FRAS1 1 6 31 4 0 42
SDHB 6 2 14 12 6 40
HOXB13 1 0 26 11 1 39
NEB 0 1 36 2 0 39
POLQ 0 0 25 9 5 39
SMAD4 4 1 16 18 0 39
VPS13B 1 4 32 2 0 39
CDKN2A 7 10 14 3 4 38
DICER1 7 2 7 8 14 38
LOC129992813, PKD2 16 0 10 8 4 38
FH 3 2 10 7 15 37
RET 6 5 9 6 10 36
USH2A 6 4 25 1 0 36
HSPG2 0 0 31 4 0 35
RB1 2 24 3 5 1 35
LRP2 0 0 26 7 1 34
RP1L1 0 5 27 1 1 34
COL7A1 3 1 25 3 1 33
LZTR1 2 5 8 9 9 33
APOB 1 2 27 1 1 32
MET 0 2 13 7 10 32
SMARCA4 0 0 8 11 13 32
ADGRV1 0 2 26 3 0 31
GAA 6 0 22 1 2 31
MYO15A 1 4 24 2 0 31
BAP1 0 2 7 13 8 30
LAMA2 3 4 21 1 1 30
ABCC6 7 3 16 2 1 29
CDH23 1 1 26 0 1 29
EYS 0 3 22 4 0 29
SYNE1 0 5 21 2 1 29
COL6A3 0 1 27 0 0 28
DYNC2H1 0 4 24 0 0 28
PTPN13 0 0 20 8 0 28
CACNA1H 0 0 26 1 0 27
FANCC 4 2 12 6 3 27
TRIOBP 1 5 13 6 2 27
LAMA3 0 1 22 2 0 25
SACS 0 1 21 1 2 25
OTOF 2 5 17 0 0 24
RECQL4 1 2 17 3 1 24
FLCN 4 0 7 5 7 23
LOC130062899, STK11 0 0 11 11 1 23
MEFV 2 1 20 0 0 23
PAH 16 2 4 0 1 23
AXIN2 0 0 6 7 9 22
CEP290 5 3 14 0 0 22
KRAS 12 1 8 1 0 22
PIEZO1 0 2 18 2 0 22
WFS1 2 4 14 0 2 22
F5 3 1 17 0 0 21
FREM2 0 1 16 3 1 21
MEN1 4 5 6 3 3 21
TNXB 0 2 19 0 0 21
CD36 1 14 5 0 0 20
LYST 0 0 19 1 0 20
POT1 1 0 10 5 4 20
SYNE2 0 0 12 5 3 20
COL6A2 0 1 17 1 0 19
FBN1 1 1 17 0 0 19
NPHP4 0 1 16 1 1 19
PIEZO2 0 0 18 1 0 19
RECQL 0 1 12 4 2 19
TMEM67 4 2 13 0 0 19
VPS13A 0 2 13 4 0 19
ALMS1 1 0 17 0 0 18
COL17A1 0 3 14 1 0 18
KMT2D 0 0 10 2 6 18
MYH14 0 1 17 0 0 18
NOTCH3 0 0 15 2 1 18
NPC1 2 4 12 0 0 18
PCDH15 1 3 14 0 0 18
PYGM 3 4 10 1 0 18
RNF213 0 0 15 3 0 18
SLC26A4 8 1 9 0 0 18
ALK 0 0 9 4 4 17
GJB2 12 2 3 0 0 17
LOXHD1 1 0 16 0 0 17
LRP5 0 1 13 1 2 17
LRRK2 2 0 12 3 0 17
MYO7A 2 0 15 0 0 17
PTCH2 0 0 12 4 1 17
WNK1 0 0 16 1 0 17
WRN 0 3 10 4 0 17
ANKRD11 0 0 12 4 0 16
COL12A1 0 1 14 0 1 16
DUOX2 7 4 5 0 0 16
EPCAM 7 2 6 1 0 16
ERCC4 0 1 14 1 0 16
FLNC 0 0 13 3 0 16
FSIP2 0 2 14 0 0 16
MC1R 0 0 10 6 0 16
MYBPC3 1 2 12 1 0 16
NOTCH1 0 0 15 1 0 16
POLG 3 6 7 0 0 16
PRX 1 3 12 0 0 16
RP1 2 0 12 2 0 16
RPGRIP1 2 4 7 1 2 16
SETX 0 0 16 0 0 16
SPTA1 0 1 13 0 2 16
TBCEL-TECTA, TECTA 0 2 14 0 0 16
TRIO 0 0 13 3 0 16
CNGB1 1 2 10 2 0 15
CNGB3 4 2 9 0 0 15
FLNB 0 0 12 3 0 15
LAMB3 1 1 10 2 1 15
LOC126859690, PKHD1 1 3 5 4 2 15
MACF1 0 0 8 6 1 15
OCA2 1 1 13 0 0 15
RYR2 0 0 15 0 0 15
SAMD9 0 0 9 3 3 15
SETBP1 0 1 10 2 2 15
TYR 6 4 4 0 1 15
ABCB11 1 2 11 0 0 14
ACE 0 1 11 2 0 14
AIRE 3 0 9 2 0 14
ATP13A2 0 1 11 2 0 14
BTD 3 2 8 0 1 14
CNGA3 1 1 11 1 0 14
CYP21A2, LOC106780800 5 2 4 0 3 14
DIS3L2 0 0 12 2 0 14
EVC 0 1 10 3 0 14
FAT2, SLC36A1 0 0 10 4 0 14
FREM1 0 1 13 0 0 14
GLI2 0 0 12 1 1 14
GYS2 3 9 2 0 0 14
KDR 0 0 10 3 1 14
KIF1B 0 0 7 6 1 14
KMT2C 0 0 4 6 4 14
LOC100507346, PTCH1 0 1 4 6 3 14
MOCS1 0 4 8 0 2 14
MYO3A 0 2 12 0 0 14
NEB, RIF1 3 2 9 0 0 14
NOD2 0 0 12 2 0 14
PALLD 0 0 6 5 3 14
PRF1 1 1 11 1 0 14
RPS20 0 0 3 6 5 14
SDHD 2 1 5 3 3 14
TCIRG1 1 2 11 0 0 14
VHL 1 3 6 2 2 14
ABCA12 0 1 10 2 0 13
ABCC8 1 1 10 1 0 13
ACAN 0 0 13 0 0 13
AGT 0 2 8 1 2 13
ALPL 2 2 8 1 0 13
AMPD1 0 1 12 0 0 13
COL4A3, MFF-DT 0 2 11 0 0 13
DNAH5 0 2 10 1 0 13
ERCC6 1 1 11 0 0 13
ITGA2B 0 3 8 2 0 13
LDLR 3 0 9 0 1 13
LOC107303340, VHL 2 6 4 0 1 13
MTHFR 0 3 7 0 3 13
MYH7 0 0 13 0 0 13
PDGFRA 0 0 10 1 2 13
SLC22A5 4 2 7 0 0 13
SMPD1 1 1 11 0 0 13
SPG7 5 0 8 0 0 13
TSHR 1 0 10 1 1 13
WNK4 0 0 12 1 0 13
ADAMTS2 0 2 10 0 0 12
APOE 1 1 9 0 1 12
ATR 0 0 10 0 2 12
BBS9 0 2 10 0 0 12
CC2D2A 4 1 7 0 0 12
CEL 0 0 12 0 0 12
COL5A2 0 0 12 0 0 12
DHCR7 5 2 5 0 0 12
FANCM 1 3 6 0 2 12
FBN2 0 0 11 1 0 12
FGD4 0 1 9 2 0 12
G6PD 8 0 2 1 1 12
HIVEP2 0 0 2 9 1 12
MITF 1 0 4 3 4 12
MYH6 0 0 12 0 0 12
OBSL1 1 2 9 0 0 12
OTOGL 1 6 3 1 1 12
PLA2G6 0 0 12 0 0 12
PMS1 0 0 7 3 2 12
RAI1 0 0 8 2 2 12
RELN 0 0 10 1 1 12
RTEL1, RTEL1-TNFRSF6B 1 1 9 0 1 12
SCN11A 0 0 12 0 0 12
SERPINA1 5 2 5 0 0 12
SPTBN2 0 0 9 2 1 12
TNFRSF13B 3 5 4 0 0 12
AARS2 0 2 9 0 0 11
AGL 1 2 7 1 0 11
BEST1 3 2 6 0 0 11
BIVM-ERCC5, ERCC5 0 1 7 3 0 11
CAPN3 6 0 5 0 0 11
CCDC40 0 3 7 1 0 11
CCDC88C 0 0 11 0 0 11
COL4A1 0 0 11 0 0 11
COL4A4 0 1 7 2 1 11
CPLANE1 3 3 5 0 0 11
DCHS1 0 1 10 0 0 11
DNAH9 1 5 5 0 0 11
DST 0 1 8 1 1 11
ERCC2 1 1 8 1 0 11
GALC 4 1 3 2 1 11
GLDC 0 0 10 1 0 11
HSALR1, PIEZO1 0 1 9 0 1 11
IFIH1 0 1 6 2 2 11
ITGB4 0 2 8 1 0 11
KIF7 0 1 10 0 0 11
MPL 3 2 5 1 0 11
MUC5B 0 0 10 1 0 11
NTRK1 0 0 9 0 2 11
PLEKHG5 0 1 10 0 0 11
PTPRQ 0 3 7 1 0 11
SH3TC2 0 1 10 0 0 11
SMARCB1 0 4 3 1 3 11
TEX15 0 10 1 0 0 11
TGM1 2 3 6 0 0 11
TMPRSS3 4 1 6 0 0 11
TNC 0 0 7 4 0 11
UBR1 0 0 10 1 0 11
WDR19 0 5 4 2 0 11
ADAMTS13 0 1 8 1 0 10
ADGRE2 0 0 9 1 0 10
AGXT 1 1 7 1 0 10
ANK2 0 0 10 0 0 10
ARID1B 0 0 8 2 0 10
ATP7B 0 0 10 0 0 10
ATRX 0 0 6 3 1 10
BLM 1 0 9 0 0 10
CLCN1 3 0 7 0 0 10
CRB1 2 0 8 0 0 10
CUX1 0 0 8 2 0 10
DNAH1 1 3 6 0 0 10
DNAH11 2 5 3 0 0 10
DNAH17 0 4 6 0 0 10
EVC2 0 2 8 0 0 10
FN1 0 0 7 3 0 10
GALT 3 1 6 0 0 10
GATA4 0 0 1 1 8 10
GEN1 0 0 4 4 2 10
GUCY2D 0 0 9 0 1 10
HBB, LOC106099062, LOC107133510 7 2 1 0 0 10
HLCS 0 1 9 0 0 10
INVS 1 2 7 0 0 10
KCNH2 0 0 8 2 0 10
KDM6B 0 0 8 1 1 10
LAMC2 0 0 9 1 0 10
MKKS 0 2 7 1 0 10
MMACHC 4 0 5 1 0 10
MYLK 0 0 10 0 0 10
MYO5A 0 0 9 1 0 10
OPLAH 0 3 6 0 1 10
PLCE1 0 0 9 1 0 10
PRKAR1A 1 6 1 0 2 10
SCN10A 0 0 10 0 0 10
SLC7A9 1 3 6 0 0 10
TCF20 0 0 8 1 1 10
TCF3 0 0 9 1 0 10
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 3 0 7 0 0 10
USH1C 0 1 8 0 1 10
ZNF423 0 0 10 0 0 10
APOBEC3B 0 0 4 5 0 9
BCHE 2 7 0 0 0 9
BRAF 0 0 9 0 0 9
CACNA1B 0 3 6 0 0 9
CACNA1S 0 1 8 0 0 9
CBS 3 0 6 0 0 9
CHD7 0 0 8 1 0 9
COL3A1 0 0 9 0 0 9
COL9A1 0 1 8 0 0 9
CREBBP 0 0 8 1 0 9
DIAPH1 0 0 9 0 0 9
DSP 0 2 7 0 0 9
EHMT1 0 0 8 1 0 9
EP300 0 0 6 3 0 9
FGG 0 0 9 0 0 9
GDF6 0 0 9 0 0 9
GNAS 0 0 8 0 1 9
GNPTAB 2 0 7 0 0 9
HGSNAT 2 2 4 1 0 9
HPS1 1 0 8 0 0 9
IMPG2 0 1 8 0 0 9
JAK3 0 0 6 2 1 9
KMT2B 0 0 6 3 0 9
L1CAM 0 0 7 2 0 9
LOC130009266, POLE 0 0 5 2 2 9
LRPPRC 0 0 9 0 0 9
LRSAM1 0 1 7 1 0 9
MAGEL2 0 0 7 2 0 9
MERTK 2 0 7 0 0 9
MUC1 0 1 8 0 0 9
MYH2, MYHAS 0 3 6 0 0 9
NPHS1 0 0 8 0 1 9
PCNT 0 2 7 0 0 9
PDE11A 0 2 7 0 0 9
PDE6A 0 0 8 1 0 9
PDHX 0 2 7 0 0 9
PLG 1 1 6 1 0 9
POR 2 1 5 1 0 9
PREPL 1 1 5 2 0 9
PRSS1, TRB 0 0 8 1 0 9
RARS2 0 2 5 0 2 9
RBP3 0 0 9 0 0 9
SAMD9L 0 0 5 2 2 9
SLC3A1 3 0 6 0 0 9
SLC6A19 1 1 6 1 0 9
SPTB 0 0 9 0 0 9
SUFU 0 0 3 4 2 9
TCOF1 0 0 7 2 0 9
TENM4 0 0 9 0 0 9
TPRN 0 2 7 0 0 9
TTC21B 1 2 6 0 0 9
ABCB4 1 1 5 1 0 8
ACADM 3 2 2 0 1 8
AHDC1 0 0 5 2 1 8
ALDOB 4 0 4 0 0 8
ANK1 0 0 7 0 1 8
ANKRD26 0 0 4 4 0 8
ARID1A 0 0 6 2 0 8
BBS12 1 0 7 0 0 8
BPTF 0 0 8 0 0 8
CACNA1D 0 0 7 1 0 8
CACNB2 0 0 8 0 0 8
CAMTA1 0 0 4 3 1 8
CDHR1 1 1 6 0 0 8
CDKN1B 0 0 2 4 2 8
CHRND 0 1 7 0 0 8
CHRNG 0 0 6 1 1 8
COL4A2 0 0 6 1 1 8
COL9A3 0 0 7 0 1 8
CP 0 1 5 2 0 8
CPS1 0 1 7 0 0 8
CPT2 2 1 5 0 0 8
DMP1 0 0 6 2 0 8
DMXL2 0 0 8 0 0 8
DOK7 1 0 6 0 1 8
DPYD 1 1 6 0 0 8
ERCC3 1 3 3 1 0 8
F11 3 0 5 0 0 8
FBXO7 0 2 6 0 0 8
FPGT-TNNI3K, TNNI3K 0 0 7 1 0 8
GALNT12, LOC130002222 0 0 8 0 0 8
GATAD1, PEX1 2 0 6 0 0 8
GBE1 2 1 4 1 0 8
GCDH 3 2 3 0 0 8
GPR179 1 3 4 0 0 8
GUSB 0 2 6 0 0 8
HGD 2 1 5 0 0 8
HPS4 1 0 6 1 0 8
HPS5 0 2 5 1 0 8
IDUA, SLC26A1 1 0 5 1 1 8
IGF1R 0 0 7 1 0 8
INPP5E 1 0 7 0 0 8
KMT2E 0 0 8 0 0 8
LOC126862264, MEFV 3 0 5 0 0 8
LOC129390903, RAD51C 2 0 6 0 0 8
LOC129933707, MSH6 1 0 4 3 0 8
MECOM 0 0 4 4 0 8
MKS1 3 0 5 0 0 8
MPDZ 0 2 6 0 0 8
MYPN 0 1 7 0 0 8
NF2 0 1 2 4 1 8
PEX1 2 0 5 1 0 8
PKD1, TSC2 0 0 0 0 8 8
PLCD1 0 1 7 0 0 8
PRODH 0 0 7 1 0 8
PROM1 1 1 6 0 0 8
RINT1 0 0 6 1 1 8
ROBO2 0 0 8 0 0 8
ROR2 0 0 8 0 0 8
SALL4 0 0 5 2 1 8
SELENON 2 2 4 0 0 8
SETD1A 0 0 6 2 0 8
SGSH 1 0 7 0 0 8
SLC12A1 0 4 4 0 0 8
SLC25A15 1 1 6 0 0 8
SLC26A2 2 0 6 0 0 8
SLC4A11 0 1 7 0 0 8
SLC6A20 0 0 8 0 0 8
SLFN14 0 0 7 1 0 8
SNORD118, TMEM107 0 5 3 0 0 8
SREBF1 0 0 7 1 0 8
STRC 0 0 6 1 1 8
TBCE 0 2 5 1 0 8
TFR2 0 1 6 1 0 8
THTPA, ZFHX2 0 0 7 1 0 8
TMC1 1 0 7 0 0 8
TRPM4 0 0 8 0 0 8
TRRAP 0 0 5 3 0 8
XPC 0 0 5 2 1 8
ZFPM2 0 0 6 1 1 8
AAAS 1 0 6 0 0 7
ABCC2 1 4 2 0 0 7
AIPL1 0 0 6 1 0 7
AKAP9 0 0 7 0 0 7
ALS2 0 0 6 1 0 7
ANO5 3 1 3 0 0 7
ASS1 4 1 2 0 0 7
ATP6V0A2 0 2 5 0 0 7
ATP8B1 1 0 5 1 0 7
ATXN3, LOC108663987 0 0 4 3 0 7
BBS1, ZDHHC24 1 0 6 0 0 7
BLK 0 0 5 0 2 7
BRCA1, LOC111589215 0 0 4 1 2 7
CARD14 0 0 7 0 0 7
CDH15 0 0 5 2 0 7
CENPF 0 5 2 0 0 7
CFAP251 0 4 3 0 0 7
CHD8 0 1 6 0 0 7
COL6A1 0 0 7 0 0 7
CTC1 0 4 3 0 0 7
DNAH8 0 4 3 0 0 7
DNHD1 0 6 0 1 0 7
DPP6 0 0 7 0 0 7
DYNC1H1 0 0 6 1 0 7
ENPP1 0 2 3 1 1 7
ERBB4 0 0 6 1 0 7
FAM161A 0 0 5 2 0 7
FAT4 0 1 6 0 0 7
FCSK 0 2 5 0 0 7
FGFR1 0 0 7 0 0 7
FMN2 0 3 1 3 0 7
FOXRED1 1 1 5 0 0 7
GCM2 0 0 5 2 0 7
GFM1 0 2 5 0 0 7
GJB3 0 0 7 0 0 7
GSDME 0 0 7 0 0 7
HEXA 1 2 3 0 1 7
HPS6 0 1 6 0 0 7
HYCC1 0 0 6 0 1 7
ILDR1 0 1 6 0 0 7
INSR 0 0 6 1 0 7
IVD 0 2 5 0 0 7
JUP 0 0 7 0 0 7
KAT6A 0 0 4 1 2 7
KCNQ1 1 1 5 0 0 7
KIF1A 0 0 7 0 0 7
KRT9 0 0 7 0 0 7
LAMA1 0 2 4 1 0 7
LOC108663996, TBP 0 0 2 1 4 7
LRP6 0 0 6 1 0 7
MIR6511B1, PKD1 1 3 2 1 0 7
MYH8, MYHAS 0 0 7 0 0 7
MYH9 0 0 7 0 0 7
NOTCH2 0 0 6 0 1 7
P3H1 0 1 5 1 0 7
PDE6B 0 0 7 0 0 7
PDGFRB 0 0 7 0 0 7
PKD1L1 0 4 3 0 0 7
PMM2 5 1 1 0 0 7
PNPT1 1 1 5 0 0 7
PROC 1 0 4 2 0 7
PYROXD1, RECQL 0 0 3 1 3 7
RAG1 1 1 5 0 0 7
RBM20 0 0 7 0 0 7
ROBO4 0 1 6 0 0 7
SCN1A 0 0 6 0 1 7
SCN1A, SCN9A 0 1 6 0 0 7
SDHC 1 1 3 2 0 7
SLC12A3 1 3 3 0 0 7
SLC12A6 0 0 6 1 0 7
SLC34A1 0 2 3 1 1 7
SLC34A2 0 0 5 2 0 7
SLC39A5 0 0 7 0 0 7
SPECC1L, SPECC1L-ADORA2A 0 0 5 1 1 7
SPTAN1 0 0 7 0 0 7
SQSTM1 0 2 5 0 0 7
TEK 0 2 4 1 0 7
TGM6 0 0 5 2 0 7
TMEM127 0 0 4 2 1 7
TSHZ1 0 1 4 2 0 7
UROS 0 1 5 0 1 7
VCAN 0 0 4 2 1 7
A2ML1 0 0 6 0 0 6
ADCY5 0 0 5 1 0 6
ALDH5A1 0 1 5 0 0 6
AMT 0 1 5 0 0 6
ARHGEF10 0 0 6 0 0 6
ASXL1 0 0 3 3 0 6
BBS10 2 1 3 0 0 6
BCKDHB 4 0 2 0 0 6
BCOR 0 0 2 2 2 6
BMPR2 0 0 6 0 0 6
C17orf107, CHRNE 0 1 5 0 0 6
C1QTNF5, MFRP 1 2 3 0 0 6
C6 1 4 1 0 0 6
CACNA1E 0 0 3 1 2 6
CACNA1G 0 0 6 0 0 6
CARD11 0 0 5 1 0 6
CASP10 0 0 6 0 0 6
CASR 0 0 6 0 0 6
CDKN2A, LOC130001603 1 1 1 1 2 6
CEP250 0 2 3 1 0 6
CFTR, LOC111674472 1 1 4 0 0 6
COL11A2 0 0 5 1 0 6
COL18A1, SLC19A1 0 0 4 0 2 6
COL9A2 0 1 5 0 0 6
CSF1R 0 1 4 1 0 6
CTNNA3 0 0 5 1 0 6
CTNS 0 0 4 0 2 6
CTSC 0 2 4 0 0 6
CUBN 0 3 3 0 0 6
CYP27A1 2 1 3 0 0 6
DCTN1 0 0 6 0 0 6
DES 0 3 2 0 1 6
DNAAF4, DNAAF4-CCPG1 1 3 2 0 0 6
DNMT1 0 0 5 1 0 6
DNMT3A 1 0 5 0 0 6
DSG2 0 2 3 1 0 6
DVL1 0 0 3 2 1 6
DYSF 1 1 4 0 0 6
EDAR, RANBP2 0 1 4 0 1 6
ENAM 1 1 4 0 0 6
EPAS1 0 0 6 0 0 6
ERCC8 0 1 5 0 0 6
ESPN 0 0 6 0 0 6
F13A1 0 2 4 0 0 6
FBP1 1 1 4 0 0 6
FHIT 1 0 4 1 0 6
FOXN1 0 0 5 1 0 6
GANAB 0 1 3 2 0 6
GBA1, LOC106627981 3 1 2 0 0 6
GIGYF2 0 0 6 0 0 6
GLB1 1 0 5 0 0 6
GLI3 0 0 6 0 0 6
GOLGA6L2 0 0 6 0 0 6
GRHPR 0 0 6 0 0 6
GRIN2A 0 0 6 0 0 6
HFE 2 1 3 0 0 6
HOGA1 3 2 1 0 0 6
HSD17B4 0 1 4 0 1 6
IGF2, INS-IGF2 0 0 6 0 0 6
IGHMBP2 0 0 5 1 0 6
INSL6, JAK2 0 0 6 0 0 6
ITGA6, PDK1 0 0 5 1 0 6
JAG1 0 0 6 0 0 6
KCNA5 0 0 6 0 0 6
KRT10 0 0 6 0 0 6
LAMA4 0 0 6 0 0 6
LAMB2 0 0 6 0 0 6
LBR 0 0 6 0 0 6
LCA5 1 0 5 0 0 6
LIFR 0 1 5 0 0 6
LOC126860438, NBN 1 0 1 3 1 6
MAP1B 0 0 6 0 0 6
MAP3K1 0 0 5 1 0 6
MCOLN1 0 1 4 1 0 6
MME 0 1 5 0 0 6
MMUT 1 4 1 0 0 6
MN1 0 0 6 0 0 6
MPO 0 2 4 0 0 6
MRE11 1 1 4 0 0 6
MVD 0 1 3 2 0 6
MYH3 0 0 6 0 0 6
MYO18B 0 2 4 0 0 6
MYO9A 0 0 5 1 0 6
NCAPH2, SCO2 2 1 3 0 0 6
NLRP12 0 2 4 0 0 6
NPR2 0 0 6 0 0 6
NR2E3 1 1 3 1 0 6
OTOG 0 2 4 0 0 6
PCARE 0 3 3 0 0 6
PDE3A 0 0 6 0 0 6
PER3 1 0 5 0 0 6
PEX6 1 2 3 0 0 6
POLR1A 0 0 6 0 0 6
PPP1R3A 0 0 6 0 0 6
PPT1 1 0 5 0 0 6
PROKR2 0 0 6 0 0 6
PYCR1 0 1 5 0 0 6
RANBP2 0 0 5 0 1 6
RERE 0 0 3 1 2 6
RFWD3 0 1 3 1 1 6
RIMS1 0 0 6 0 0 6
RPGRIP1L 0 1 4 0 1 6
RUNX1 0 0 6 0 0 6
SCN5A 0 0 4 0 2 6
SCNN1A 0 2 4 0 0 6
SCNN1B 0 0 6 0 0 6
SEC63 1 0 4 1 0 6
SETD1B 0 1 5 0 0 6
SLC19A3 0 1 5 0 0 6
SLC37A4 1 0 5 0 0 6
SLCO1B1 1 3 2 0 0 6
SMARCE1 0 0 3 3 0 6
SMCHD1 0 0 6 0 0 6
SON 0 0 2 2 2 6
SRCAP 0 0 4 2 0 6
TG 1 1 4 0 0 6
TGIF1 0 0 5 1 0 6
TH 0 0 6 0 0 6
TTBK2 0 0 4 2 0 6
TUBGCP6 1 2 3 0 0 6
UMOD 0 0 5 1 0 6
UNC13D 3 1 2 0 0 6
VPS33B 0 2 3 1 0 6
WNT10A 0 2 4 0 0 6
ABCA12, SNHG31 0 0 4 0 1 5
ABCC11 0 0 4 1 0 5
ABCG8 0 3 2 0 0 5
ACADSB 0 3 2 0 0 5
ACD 0 0 4 1 0 5
ACSF3 1 2 2 0 0 5
AFG2A 1 0 4 0 0 5
AFP 0 0 4 1 0 5
ALAS2 0 0 3 1 1 5
ALOX12B 0 0 4 1 0 5
ANO3 0 0 5 0 0 5
APC, LOC129994371 0 5 0 0 0 5
APOL1 1 2 2 0 0 5
AR 0 0 3 2 0 5
AR, LOC109504725 0 0 1 2 2 5
ARFGEF1-DT, CPA6 0 0 5 0 0 5
ARHGAP31 0 0 3 1 1 5
ARSA 2 0 2 0 1 5
ASH1L 0 0 3 2 0 5
ASPH 0 2 3 0 0 5
ASXL2 0 0 4 1 0 5
ASXL3 0 0 3 1 1 5
ATN1, LOC109461484 0 0 1 4 0 5
BBS7 0 0 4 1 0 5
C5 0 1 4 0 0 5
CCDC78 0 0 4 1 0 5
CDH10 0 0 5 0 0 5
CDK5RAP2 0 2 3 0 0 5
CEP41 0 0 5 0 0 5
CFAP43 0 2 3 0 0 5
CLCN2 0 1 3 0 1 5
CLN8 0 0 4 1 0 5
COASY 1 3 1 0 0 5
COL11A1 0 0 5 0 0 5
COL18A1 0 1 3 1 0 5
COMP 0 0 5 0 0 5
COX15 1 2 2 0 0 5
CPSF1 0 0 5 0 0 5
CRB2 2 2 1 0 0 5
CRYBA2 0 0 5 0 0 5
CYP1B1 1 2 1 1 0 5
DCLRE1C 0 0 5 0 0 5
DDC 0 1 3 0 1 5
DDX41 0 0 4 0 1 5
DEAF1 0 1 3 1 0 5
DEPDC5 0 0 4 0 1 5
DHX37 0 0 5 0 0 5
DLD 2 1 2 0 0 5
DLL3 0 1 4 0 0 5
DNAI1 3 2 0 0 0 5
DNMT3B 0 1 4 0 0 5
DRC1 1 1 3 0 0 5
EIF2AK3 0 2 3 0 0 5
EPHA2 0 0 4 0 1 5
EPM2A 0 0 4 1 0 5
EXOC4 0 0 4 1 0 5
F2 1 0 4 0 0 5
FAH 3 0 2 0 0 5
FAM111B 0 0 3 1 1 5
FAM20C 0 0 5 0 0 5
FAT1, LOC126807254 0 0 3 2 0 5
FECH 1 1 3 0 0 5
FGB 0 0 5 0 0 5
FIG4 1 2 2 0 0 5
FMN1 2 0 1 2 0 5
FMO3 0 2 2 0 1 5
FSHR 0 2 3 0 0 5
GFAP 0 0 5 0 0 5
GHR 0 0 5 0 0 5
GJB4 0 0 4 1 0 5
GREB1L 0 0 5 0 0 5
GUCY2C 0 3 2 0 0 5
HDAC6 0 0 1 4 0 5
HEXB 1 3 1 0 0 5
HFM1 0 3 2 0 0 5
HMBS 0 0 4 0 1 5
HMCN1 0 0 5 0 0 5
HPS3 0 0 5 0 0 5
HSPA9 0 0 5 0 0 5
HTT, LOC109461479, LOC129929027 0 3 2 0 0 5
HYDIN 0 1 4 0 0 5
IFT80, TRIM59-IFT80 0 0 5 0 0 5
IMPG1 0 1 4 0 0 5
INF2 0 0 5 0 0 5
IQCB1 1 1 2 0 1 5
IRF8 0 0 5 0 0 5
ITGAM 0 0 5 0 0 5
JPH1 0 0 4 1 0 5
KCNJ1 0 1 4 0 0 5
KCNJ11 0 1 4 0 0 5
KCNQ2 0 0 4 1 0 5
KIF21A 0 0 4 1 0 5
KIT 0 0 4 1 0 5
KLHL40 1 0 3 1 0 5
KLLN, PTEN 0 4 0 0 1 5
KMT2A 0 0 5 0 0 5
KNL1 0 1 2 2 0 5
KRT81, KRT86 0 0 5 0 0 5
LIPC 0 0 5 0 0 5
LMBR1 0 0 5 0 0 5
LOC102724058, SCN1A 0 0 4 1 0 5
LOC130058212, PKD1 0 0 0 5 0 5
MATN3 0 0 5 0 0 5
MBL2 0 0 3 0 2 5
MCM2 0 0 3 2 0 5
MED13L 0 0 4 1 0 5
MIPEP 0 3 2 0 0 5
MMAB 1 0 4 0 0 5
MOCS2 0 0 4 1 0 5
MPI 1 0 4 0 0 5
MRPS22 1 0 4 0 0 5
MTFMT 1 0 4 0 0 5
MTTP 0 0 5 0 0 5
MYBPC1 0 0 5 0 0 5
MYH11, NDE1 0 0 5 0 0 5
MYOC 1 0 3 1 0 5
MYRF 0 0 4 0 1 5
NAGA 1 0 4 0 0 5
NAGLU 2 1 2 0 0 5
NALCN 0 1 4 0 0 5
NEXN 0 0 4 1 0 5
NMNAT1 1 2 2 0 0 5
NOBOX 0 0 4 1 0 5
NPHP3, NPHP3-ACAD11 0 1 4 0 0 5
NPHS2 2 0 2 0 1 5
NRIP1 0 0 2 3 0 5
OPA1 0 1 4 0 0 5
ORC1 0 3 2 0 0 5
PCSK9 0 0 4 0 1 5
PEX7 1 0 4 0 0 5
PIGQ 0 1 4 0 0 5
PIGT 0 2 3 0 0 5
PIKFYVE 0 2 3 0 0 5
PLCG2 0 0 5 0 0 5
POU6F2 0 0 5 0 0 5
PREPL, SLC3A1 0 0 5 0 0 5
PRKCSH 0 0 4 1 0 5
PRKN 2 0 3 0 0 5
PROP1 2 0 3 0 0 5
PRPH2 0 0 3 2 0 5
PSAP 1 2 2 0 0 5
PTH1R 0 0 4 0 1 5
PTPN11 0 1 4 0 0 5
RAB27A 0 1 3 1 0 5
RAB3GAP1 1 0 3 1 0 5
RAB3GAP2 0 0 5 0 0 5
RAG2 0 1 3 1 0 5
RPE65 1 2 2 0 0 5
SBDS 2 2 1 0 0 5
SEPSECS 1 1 3 0 0 5
SERAC1 0 0 5 0 0 5
SERPINC1 1 1 3 0 0 5
SETD2 0 0 3 2 0 5
SETD5 0 0 3 2 0 5
SFTPA1 0 0 4 0 1 5
SFTPB 0 0 5 0 0 5
SGCA 2 1 2 0 0 5
SH3BP2 0 0 5 0 0 5
SHOX 0 0 3 1 1 5
SHROOM4 0 0 1 3 1 5
SIL1 0 0 5 0 0 5
SLC25A13 0 1 4 0 0 5
SLC4A1 0 0 4 1 0 5
STIM1 0 0 5 0 0 5
STRA6 0 1 4 0 0 5
SUGCT 0 1 4 0 0 5
SUOX 0 1 2 1 1 5
SZT2 0 2 3 0 0 5
TBC1D24 1 1 3 0 0 5
TBC1D8B 0 0 4 1 0 5
TCTN1 0 0 4 1 0 5
TCTN2 0 0 5 0 0 5
TLR2 0 0 5 0 0 5
TMEM132E 3 1 1 0 0 5
TMEM231 0 1 2 0 2 5
TMEM237 1 1 3 0 0 5
TOPORS 0 1 4 0 0 5
TP63 0 0 4 1 0 5
TRIM37 0 1 3 1 0 5
TRIM71 0 0 4 1 0 5
TRIP11 0 1 4 0 0 5
TRIP12 0 0 4 1 0 5
TSEN54 1 0 4 0 0 5
TYRP1 0 0 4 1 0 5
UNC45B 0 0 5 0 0 5
USH1G 0 0 4 1 0 5
USP45 0 0 5 0 0 5
VANGL1 0 0 5 0 0 5
VDR 0 0 4 0 1 5
VSX1 0 0 5 0 0 5
WDFY3 0 0 4 1 0 5
WDR11 0 0 5 0 0 5
ZNF142 0 0 5 0 0 5
ZNF462 0 0 3 1 1 5
AARS1 0 1 3 0 0 4
ABCA1 0 3 1 0 0 4
ABCA3 0 3 1 0 0 4
ABCA7 0 0 4 0 0 4
ABCD1, PLXNB3 1 0 3 0 0 4
ACAD9 2 0 1 0 1 4
ACADS 1 1 2 0 0 4
ACO2 0 0 4 0 0 4
ACOX1 0 0 4 0 0 4
ACTN2 0 0 4 0 0 4
ADGRG2 0 0 3 1 0 4
AGA 0 0 4 0 0 4
AGBL1 0 0 4 0 0 4
AGK 0 2 1 1 0 4
AHI1 0 0 4 0 0 4
ALDH18A1 0 0 4 0 0 4
ALG6 1 1 2 0 0 4
ALPK1 0 0 3 1 0 4
ALPK3 0 4 0 0 0 4
ANLN 0 0 4 0 0 4
ANXA11 0 0 4 0 0 4
AP3B1 0 0 3 1 0 4
AP4E1 0 0 4 0 0 4
APCDD1 0 0 4 0 0 4
APTX 1 0 3 0 0 4
ARID2 0 0 3 1 0 4
ASL 2 2 0 0 0 4
ATAD3A 0 0 4 0 0 4
ATP2A1 1 3 0 0 0 4
ATXN1, LOC108663993 0 0 3 1 0 4
BBS2 2 1 1 0 0 4
BFSP2 0 0 4 0 0 4
BRPF1 0 0 4 0 0 4
BSCL2, HNRNPUL2-BSCL2 0 0 3 0 1 4
BSND 1 1 2 0 0 4
C7 0 3 1 0 0 4
C9 3 0 1 0 0 4
CBR4, PALLD 0 0 4 0 0 4
CCDC50 0 0 1 0 3 4
CCM2 0 0 4 0 0 4
CD2AP 0 0 4 0 0 4
CD46 1 0 3 0 0 4
CDON 0 0 3 1 0 4
CEBPA 0 0 4 0 0 4
CERS1, GDF1 0 3 1 0 0 4
CES1 0 0 4 0 0 4
CFAP65 0 0 4 0 0 4
CFP 0 0 2 2 0 4
CHAMP1 0 0 1 3 0 4
CHD4 0 0 2 2 0 4
CHMP2B 0 0 4 0 0 4
CIC 0 0 2 2 0 4
CNOT1 0 0 4 0 0 4
COL10A1, NT5DC1 0 0 4 0 0 4
COL1A1 0 0 4 0 0 4
COQ2, LOC112997540 0 0 4 0 0 4
CPT1C 0 0 3 1 0 4
CR2 0 1 3 0 0 4
CRTAP 0 0 4 0 0 4
CRX 0 0 4 0 0 4
CTNND1, TMX2-CTNND1 0 0 3 1 0 4
CTSK 0 0 4 0 0 4
CWC27 0 2 2 0 0 4
CYP11A1 0 2 2 0 0 4
CYP24A1 1 2 1 0 0 4
DCC 0 0 4 0 0 4
DIAPH2 0 0 4 0 0 4
DIAPH3 0 0 4 0 0 4
DMD 0 0 4 0 0 4
DSC2 0 0 4 0 0 4
DYNC2I1 0 3 1 0 0 4
EARS2 0 0 2 2 0 4
EGFR 0 0 2 1 1 4
EHHADH 0 0 4 0 0 4
EIF2AK4 0 4 0 0 0 4
ERBB2 0 0 4 0 0 4
ERCC6, PGBD3 0 1 3 0 0 4
ERCC6L2 0 1 3 0 0 4
ESR1 0 0 4 0 0 4
ESRRB 0 0 4 0 0 4
ETFDH 0 1 3 0 0 4
ETV6 0 0 4 0 0 4
F12 0 2 1 0 1 4
F7 0 1 3 0 0 4
FAM111A 0 0 2 0 2 4
FANCE 0 1 1 0 2 4
FANCG 1 1 2 0 0 4
FARS2 2 0 2 0 0 4
FASTKD2 0 0 2 2 0 4
FAT2 0 0 0 3 1 4
FBLN5 0 0 4 0 0 4
FBXO11, MSH6 0 0 1 2 1 4
FIGLA 0 0 4 0 0 4
FLNA 0 0 3 1 0 4
FOXF1 0 0 4 0 0 4
FSCN2 0 0 4 0 0 4
G6PC1 3 0 1 0 0 4
GALK1, ITGB4 0 0 4 0 0 4
GAREM2, HADHA 0 1 3 0 0 4
GATA6 0 1 3 0 0 4
GCNT2 0 0 4 0 0 4
GFER 0 0 4 0 0 4
GFM2 0 0 3 0 1 4
GJA1 0 0 4 0 0 4
GJC2 0 1 3 0 0 4
GNAT2 0 0 3 1 0 4
GNE 1 2 1 0 0 4
GPD2 0 0 4 0 0 4
GREM1 0 0 3 1 0 4
GSS 1 1 2 0 0 4
HABP2 0 0 4 0 0 4
HIBCH 1 1 0 2 0 4
HLA-A 0 0 4 0 0 4
HMGCL 1 3 0 0 0 4
HOMER2 0 0 3 1 0 4
HR 0 0 4 0 0 4
HSD17B3, SLC35D2-HSD17B3 1 1 2 0 0 4
HTRA1 0 0 4 0 0 4
HYLS1, PUS3 0 1 3 0 0 4
IFT140 0 0 4 0 0 4
IKBKB 0 1 2 0 1 4
IL31RA 0 0 4 0 0 4
INTS1 0 1 3 0 0 4
IQCE 0 0 4 0 0 4
IRF2BPL 0 0 2 1 1 4
ITPR1 0 0 4 0 0 4
JPH2 0 0 4 0 0 4
KANK1 0 0 4 0 0 4
KCNJ12 0 0 4 0 0 4
KIAA0753 0 4 0 0 0 4
KIDINS220 0 0 3 1 0 4
KIF1C 0 0 4 0 0 4
KLKB1 0 2 1 0 1 4
KRIT1 0 0 4 0 0 4
KRT17 0 0 4 0 0 4
KRT4 0 0 2 1 1 4
KRT74 0 0 4 0 0 4
KRT83 0 0 4 0 0 4
LDB3 0 0 4 0 0 4
LIPT1, MITD1 1 3 0 0 0 4
LOC126806421, TTN 0 0 4 0 0 4
LOC126806432, TTN 0 0 4 0 0 4
LOC130004273, MLDHR, PTEN 0 4 0 0 0 4
LOC130004614, SUFU 0 0 2 2 0 4
LOC130008987, ORAI1 0 1 3 0 0 4
LPL 0 1 2 0 1 4
LRAT 0 1 3 0 0 4
MAK 0 1 3 0 0 4
MAML2 0 0 4 0 0 4
MANBA 0 3 1 0 0 4
MAP2K2 0 0 4 0 0 4
MARS2 0 1 3 0 0 4
MAX 0 0 1 1 2 4
MCCC2 1 0 3 0 0 4
MED13 0 0 4 0 0 4
MILR1, POLG2 0 1 3 0 0 4
MIR1225, PKD1 3 0 0 0 1 4
MMP19 0 0 3 1 0 4
MPZL2 2 1 1 0 0 4
MSC, TRPA1 0 0 4 0 0 4
MST1R 0 0 4 0 0 4
MTO1 0 0 3 1 0 4
MUC4 0 0 4 0 0 4
MYCN, MYCNOS 0 0 4 0 0 4
MYO6 0 0 4 0 0 4
NAA15 0 0 3 1 0 4
NCAPD2 0 1 3 0 0 4
NCAPG2 0 0 4 0 0 4
NDUFA10 0 0 3 0 1 4
NDUFAF6 0 1 3 0 0 4
NDUFB3 1 1 2 0 0 4
NDUFS1 0 1 3 0 0 4
NEFH 0 0 3 1 0 4
NHERF1 0 0 3 1 0 4
NHLRC1 1 0 3 0 0 4
NIPBL 0 0 4 0 0 4
NLRC4 0 0 4 0 0 4
NPHP1 1 0 3 0 0 4
NRL, PCK2 0 1 3 0 0 4
NSD1 0 0 4 0 0 4
OBSCN 0 1 3 0 0 4
OPA3 1 0 3 0 0 4
OTOA 0 1 2 1 0 4
P4HA2 0 0 3 1 0 4
PANX1 0 0 4 0 0 4
PC 0 1 3 0 0 4
PCLO 0 0 4 0 0 4
PDE6C 0 0 4 0 0 4
PEX12 2 2 0 0 0 4
PHEX 0 0 2 0 2 4
PI4KA, SERPIND1 0 0 3 1 0 4
PLA2G7 0 0 4 0 0 4
PLIN1 0 0 4 0 0 4
PLOD1 0 1 3 0 0 4
PML 0 0 4 0 0 4
PNPLA6 0 1 3 0 0 4
POMT1 1 1 2 0 0 4
POMT2 0 2 2 0 0 4
PPP2R2B 0 0 3 1 0 4
PRDM6 0 0 3 1 0 4
PSEN2 0 0 4 0 0 4
PSTPIP1 0 0 4 0 0 4
PVALB 0 0 4 0 0 4
PYGL 0 3 1 0 0 4
RAD50 0 0 2 2 0 4
REEP1 0 0 4 0 0 4
REST 0 0 3 0 1 4
RHAG 0 0 4 0 0 4
RHO 0 0 4 0 0 4
RNASEL 0 0 4 0 0 4
RPGR 0 0 4 0 0 4
SALL1 0 0 3 1 0 4
SCN3A 0 0 4 0 0 4
SDHAF2 0 0 1 2 1 4
SEC23B 2 0 2 0 0 4
SEMA3E 0 0 4 0 0 4
SEMA4A 0 0 3 0 1 4
SEPTIN9 0 0 4 0 0 4
SERPINA3 0 0 3 1 0 4
SERPINA6 0 2 2 0 0 4
SERPINE1 0 0 3 0 1 4
SIX3 0 0 3 1 0 4
SIX5 0 0 3 1 0 4
SLC12A2 0 1 3 0 0 4
SLC16A12 0 0 4 0 0 4
SLC17A5 0 1 3 0 0 4
SLC2A9 0 1 3 0 0 4
SLC30A8 0 0 4 0 0 4
SLC35A2 0 0 1 3 0 4
SLC38A8 0 3 1 0 0 4
SLC40A1 0 1 3 0 0 4
SLC6A2 0 0 4 0 0 4
SMAD6 0 1 3 0 0 4
SMAD9 0 0 3 0 1 4
SMARCC2 0 0 2 1 1 4
SOS2 0 0 0 4 0 4
SOX4 0 0 2 2 0 4
SPINK1 1 1 2 0 0 4
SRGAP1 0 0 4 0 0 4
STAR 1 1 2 0 0 4
STOX1 0 0 4 0 0 4
SURF1 1 1 1 1 0 4
SYCP3 0 0 4 0 0 4
TBK1 0 0 2 2 0 4
TBX3 0 0 3 1 0 4
TGFBR2 0 0 3 0 1 4
THPO 0 0 4 0 0 4
TMEM216 0 1 3 0 0 4
TMPRSS15 1 3 0 0 0 4
TMPRSS6 0 1 3 0 0 4
TNFAIP3 0 0 4 0 0 4
TNFRSF1A 0 0 4 0 0 4
TPP1 0 1 2 0 1 4
TRAK1 0 1 3 0 0 4
TRNT1 0 2 2 0 0 4
TRPC6 0 0 4 0 0 4
TSPEAR 0 2 2 0 0 4
TUFM 0 1 3 0 0 4
UBAP1 0 0 4 0 0 4
UROD 0 1 3 0 0 4
VARS2 0 3 1 0 0 4
WASF1 0 0 3 1 0 4
WDPCP 0 3 1 0 0 4
WDR37 0 0 3 1 0 4
XDH 0 2 2 0 0 4
YEATS2 0 0 3 1 0 4
ZEB2 0 0 4 0 0 4
ZFYVE27 0 0 3 0 1 4
ZMIZ1 0 0 3 1 0 4
ZNF408 0 0 4 0 0 4
ZNF687 0 0 4 0 0 4
ZSWIM6 0 0 3 1 0 4
ABCA4, LOC126805794 0 0 3 0 0 3
ABCD1 1 0 1 1 0 3
ACACA 0 0 3 0 0 3
ACSL6 0 0 3 0 0 3
ADA, LOC107303343 1 2 0 0 0 3
ADAMTSL2 0 0 2 1 0 3
ADAMTSL4 1 1 1 0 0 3
ADAR 2 0 1 0 0 3
ADPRS 0 2 1 0 0 3
ADSS1 0 2 1 0 0 3
AFF2 0 0 2 1 0 3
AGTR1 0 0 2 0 1 3
AIP 0 0 1 2 0 3
ALDH3A2 0 0 3 0 0 3
ALG1 0 1 1 1 0 3
ALG13 0 0 3 0 0 3
ALMS1, LOC126806252 0 0 3 0 0 3
ALOXE3 1 1 1 0 0 3
ALX4 0 0 3 0 0 3
AMHR2 1 2 0 0 0 3
ANAPC15, LRTOMT, TOMT 0 0 3 0 0 3
ANO10 1 1 1 0 0 3
AOPEP 0 2 1 0 0 3
APP 0 0 3 0 0 3
APPL1 0 0 3 0 0 3
ARID1B, LOC115308161 0 0 3 0 0 3
ARL13B 0 1 2 0 0 3
ARMC5 0 0 2 1 0 3
ASAH1 1 0 2 0 0 3
ASIC4, SPEG 0 0 3 0 0 3
ASTN2, TRIM32 0 0 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 0 1 1 1 0 3
ATXN3 0 1 2 0 0 3
B3GALNT2 0 1 2 0 0 3
B9D1 0 0 2 1 0 3
BACH2 0 0 2 1 0 3
BBS1 0 1 1 0 1 3
BBS4 0 0 3 0 0 3
BCL2L1 0 0 3 0 0 3
BCO1 0 0 3 0 0 3
BCS1L 1 1 1 0 0 3
BEAN1 0 0 3 0 0 3
BICC1 0 0 3 0 0 3
BLTP1 0 3 0 0 0 3
BMP2 0 0 3 0 0 3
BMPR1B 0 0 3 0 0 3
BRAT1 1 1 1 0 0 3
C2 1 1 1 0 0 3
C2CD3 0 0 3 0 0 3
C8B 2 0 1 0 0 3
CACNA1C 0 0 3 0 0 3
CACNA2D4 0 0 3 0 0 3
CALCR 0 0 3 0 0 3
CAPN10 0 0 3 0 0 3
CAPN15 0 1 2 0 0 3
CAPN5 0 0 3 0 0 3
CASQ1 0 0 3 0 0 3
CASQ2 1 0 2 0 0 3
CAST, LOC101929710, PCSK1 0 0 3 0 0 3
CCBE1 0 2 1 0 0 3
CCDST, FLG2 0 1 2 0 0 3
CD96 0 0 3 0 0 3
CDC73 0 0 0 2 1 3
CDK13 0 0 3 0 0 3
CDK4, TSPAN31 0 0 2 1 0 3
CDSN, PSORS1C1 0 0 2 1 0 3
CEP164 0 2 1 0 0 3
CEP57 0 0 2 0 1 3
CERT1, POLK 0 0 2 1 0 3
CFH 0 0 3 0 0 3
CFHR5 0 0 3 0 0 3
CHD2 0 0 0 3 0 3
CHKB, CHKB-CPT1B 0 0 3 0 0 3
CHRNA1 0 0 3 0 0 3
CHST6 0 1 2 0 0 3
CILK1 0 0 3 0 0 3
CILP 0 0 3 0 0 3
CITED2 0 0 2 1 0 3
CLN6 0 0 2 1 0 3
CLRN1 1 0 2 0 0 3
CNGA1, LOC101927157 1 0 2 0 0 3
CNOT3 0 0 0 2 1 3
COCH 0 0 3 0 0 3
COL1A2 0 0 3 0 0 3
COL2A1 0 0 3 0 0 3
COL5A1 0 0 3 0 0 3
COL5A1, LOC101448202 0 0 3 0 0 3
COL8A2 0 0 3 0 0 3
COQ6, ENTPD5 0 1 2 0 0 3
COQ8A 0 3 0 0 0 3
COQ8B 1 1 1 0 0 3
COQ9 0 0 2 0 1 3
CPA6 0 0 3 0 0 3
CPNE1, RBM12 0 0 2 1 0 3
CPT1A 0 0 3 0 0 3
CRYBB3 0 0 2 1 0 3
CTBP2 0 0 3 0 0 3
CTRC 0 0 3 0 0 3
CTU2 0 0 3 0 0 3
CYP17A1 1 1 1 0 0 3
CYP27B1 0 1 2 0 0 3
CYP2R1, PDE3B 1 1 1 0 0 3
D2HGDH 0 0 3 0 0 3
DARS2 0 1 2 0 0 3
DCAF17 0 0 2 0 1 3
DCT 0 2 1 0 0 3
DDB2 0 0 2 1 0 3
DDR2 0 0 3 0 0 3
DDX11 2 0 1 0 0 3
DHDDS 0 1 2 0 0 3
DHTKD1 0 1 2 0 0 3
DLAT 0 0 3 0 0 3
DMP1, DSPP 0 0 2 0 1 3
DNAAF11 0 0 2 1 0 3
DNAAF2 0 0 2 1 0 3
DNAH10 0 2 1 0 0 3
DNAH2 0 0 3 0 0 3
DNAJB6 0 0 3 0 0 3
DNM2 0 0 3 0 0 3
DOCK6 0 3 0 0 0 3
DONSON 0 2 0 1 0 3
DPAGT1 0 0 3 0 0 3
DPAGT1, LOC126861360 0 0 3 0 0 3
DPYS 0 1 2 0 0 3
DSC3 0 1 2 0 0 3
DSG1 0 1 1 1 0 3
DUOXA2 0 2 1 0 0 3
DYRK1B 0 0 3 0 0 3
ECHS1 0 1 2 0 0 3
EDNRB 0 0 2 0 1 3
EFCAB10, RINT1 0 0 1 0 2 3
EGF 0 0 3 0 0 3
EIF2B2 2 0 1 0 0 3
ELN 0 0 3 0 0 3
ELOVL5 0 0 3 0 0 3
ELP1 1 2 0 0 0 3
ELP2 0 0 3 0 0 3
ENG 0 0 3 0 0 3
EPB41 0 0 3 0 0 3
EPM2A, EPM2A-DT, LOC129997381 1 0 2 0 0 3
EPOR 0 0 3 0 0 3
ERBB3 0 0 2 1 0 3
ESCO2 1 1 1 0 0 3
ETHE1 0 0 3 0 0 3
EYS, PHF3 2 0 1 0 0 3
FANCA 0 0 2 0 1 3
FANCD2, LOC107303338 0 0 2 0 1 3
FANCF 0 0 1 1 1 3
FAT1, LOC126807255 0 0 1 1 1 3
FGA 0 1 2 0 0 3
FGFR3 0 0 3 0 0 3
FKRP 1 0 2 0 0 3
FLG 0 0 3 0 0 3
FOXC1 0 0 3 0 0 3
FOXC2 0 0 3 0 0 3
FOXE1 0 0 3 0 0 3
FOXE3, LINC01389 0 0 3 0 0 3
FOXP3 0 0 0 0 3 3
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 3 0 0 3
FRMPD4 0 0 3 0 0 3
FTL 0 0 2 0 1 3
GAMT 1 2 0 0 0 3
GAS2L2 0 0 3 0 0 3
GATA5 0 0 3 0 0 3
GCDH, LOC126862860, SYCE2 0 1 0 0 2 3
GCH1 0 1 2 0 0 3
GDF3 0 0 3 0 0 3
GHSR 0 0 3 0 0 3
GIPC3 0 0 2 1 0 3
GLA, RPL36A-HNRNPH2 0 0 3 0 0 3
GLE1 0 2 1 0 0 3
GLMN 1 1 1 0 0 3
GMPPB 3 0 0 0 0 3
GNAO1 0 0 3 0 0 3
GNRHR 3 0 0 0 0 3
GPNMB 0 2 1 0 0 3
GRHL3 0 0 2 1 0 3
GRIN2D 0 0 3 0 0 3
GRM6, ZNF454 0 2 1 0 0 3
HADH 0 0 2 1 0 3
HARS2 0 0 3 0 0 3
HBA-LCR, NPRL3 0 0 3 0 0 3
HJV 1 2 0 0 0 3
HK1 0 0 3 0 0 3
HMMR 0 0 2 0 1 3
HNF1B 0 0 3 0 0 3
HNRNPDL 0 0 3 0 0 3
HOXA13, LOC107126288 0 0 2 1 0 3
HOXD13 0 0 3 0 0 3
HPGD 1 2 0 0 0 3
HRG 0 0 3 0 0 3
HS6ST1 0 0 3 0 0 3
HUWE1 0 0 2 1 0 3
IFNGR1 1 0 1 1 0 3
IL12RB1 0 2 1 0 0 3
IL17RD, LOC126806689 0 0 3 0 0 3
IL4I1, NUP62 0 0 3 0 0 3
IMPDH1 0 0 3 0 0 3
IQSEC2 0 0 2 1 0 3
IREB2 0 0 3 0 0 3
IRF2BP2 0 0 3 0 0 3
IRF3 0 0 3 0 0 3
ITGA7 0 2 1 0 0 3
ITGB3 0 0 3 0 0 3
JAK1 0 0 2 1 0 3
KALRN 0 0 3 0 0 3
KAT6B 0 0 1 1 1 3
KATNIP 0 1 2 0 0 3
KCNB1 0 0 3 0 0 3
KCNC3 0 0 2 1 0 3
KCND3 0 0 3 0 0 3
KCNMA1 0 1 2 0 0 3
KCNQ3 0 0 3 0 0 3
KCNQ4 0 0 3 0 0 3
KCNT1 0 0 3 0 0 3
KCNT2 0 0 3 0 0 3
KCTD7 0 2 1 0 0 3
KLF11 0 0 3 0 0 3
KLHL3 0 0 3 0 0 3
KLLN, LOC130004273, PTEN 0 1 1 1 0 3
KRT13 0 0 1 1 1 3
KRT14 0 2 1 0 0 3
KRT16 0 0 3 0 0 3
KRT3 0 0 3 0 0 3
KRT6B 0 0 3 0 0 3
KRT71 0 0 3 0 0 3
LDHD 0 0 3 0 0 3
LDLRAP1 0 0 3 0 0 3
LEMD3 0 0 3 0 0 3
LIPE 0 1 2 0 0 3
LMNA 0 1 2 0 0 3
LOC106694316, MPO 0 3 0 0 0 3
LOC112529895, SCO1 0 0 3 0 0 3
LOC126806429, TTN 0 0 3 0 0 3
LOC126807437, MSH3 0 0 1 2 0 3
LOC126861339, SDHD 0 0 0 2 1 3
LOC126861365, TBCEL-TECTA, TECTA 1 0 2 0 0 3
LOC126861898, MYH7 0 0 3 0 0 3
LOC126862902, RYR1 0 0 3 0 0 3
LOC129929542, SDHB 0 0 3 0 0 3
LOC129993918, MAP3K1 0 0 3 0 0 3
LOC130004273, PTEN 0 3 0 0 0 3
LONP1 0 0 3 0 0 3
LPP 0 0 3 0 0 3
LRBA 0 0 2 0 1 3
LRP1 0 0 2 0 1 3
LRP4 0 0 3 0 0 3
LTBP2 0 1 2 0 0 3
LYZ 0 0 3 0 0 3
MAN2B1 0 0 3 0 0 3
MAN2C1 0 2 1 0 0 3
MAPK8IP3 0 0 2 1 0 3
MAPT 0 0 2 1 0 3
MARS1 0 0 3 0 0 3
MATN3, WDR35-DT 0 0 2 0 1 3
MCM3AP 0 1 2 0 0 3
MECP2 0 0 3 0 0 3
MEF2A 0 0 3 0 0 3
MFSD8 0 0 3 0 0 3
MINPP1 0 0 3 0 0 3
MIR1225, PKD1, TSC2 1 0 2 0 0 3
MKRN3 0 1 2 0 0 3
MLC1 0 2 1 0 0 3
MMP13 0 0 3 0 0 3
MMP20 1 1 1 0 0 3
MOGS 0 2 0 1 0 3
MPV17 0 1 2 0 0 3
MSTO1 0 1 2 0 0 3
MTOR 0 0 1 2 0 3
MUTYH, TOE1 0 0 1 2 0 3
MYH11 0 0 3 0 0 3
MYL4 0 0 3 0 0 3
MYLK2 0 0 3 0 0 3
MYO5B 0 1 0 1 1 3
MZT2A, TUBA3D 0 0 3 0 0 3
NALF1 3 0 0 0 0 3
NARS1 0 1 2 0 0 3
NAXD 0 2 1 0 0 3
NCSTN 0 0 3 0 0 3
NDUFA9 0 0 3 0 0 3
NDUFAF5 0 2 1 0 0 3
NDUFB9 0 0 3 0 0 3
NDUFS8 0 1 1 1 0 3
NDUFV1 0 1 2 0 0 3
NEFL 0 0 2 1 0 3
NEK1 0 0 3 0 0 3
NEXMIF 0 0 2 1 0 3
NFASC 0 0 3 0 0 3
NFE2L2 0 0 1 1 1 3
NFKB1 0 0 3 0 0 3
NHS 0 0 3 0 0 3
NLRP1 0 0 3 0 0 3
NLRP7 0 0 3 0 0 3
NOS3 0 0 2 0 1 3
NSMF 0 0 2 1 0 3
NUBPL 1 0 1 1 0 3
NUP133 0 0 3 0 0 3
NUP214 0 0 3 0 0 3
OSMR 0 0 3 0 0 3
OXR1 0 0 3 0 0 3
PACS1 0 0 1 2 0 3
PADI3 1 1 1 0 0 3
PANK2 1 0 2 0 0 3
PARN 0 0 3 0 0 3
PAX2 0 0 2 1 0 3
PAX4 0 0 3 0 0 3
PAX7 0 0 3 0 0 3
PAX8 0 0 3 0 0 3
PCDH12, RNF14 1 2 0 0 0 3
PDE4D 0 0 2 0 1 3
PDHA1 0 0 1 1 1 3
PDP1 0 0 3 0 0 3
PDYN 0 0 2 1 0 3
PER2 0 0 2 1 0 3
PGM1 0 2 1 0 0 3
PIGN 2 0 1 0 0 3
PIK3C2A 0 0 3 0 0 3
PIK3CD 0 0 3 0 0 3
PKLR 1 0 2 0 0 3
PKP1 0 0 3 0 0 3
PKP2 1 0 2 0 0 3
PLD3 0 0 3 0 0 3
PMVK 0 1 1 1 0 3
POGZ 0 0 2 1 0 3
POLR1C 0 1 2 0 0 3
POLR3A 1 2 0 0 0 3
POMGNT1, TSPAN1 1 0 2 0 0 3
PPARG 0 0 3 0 0 3
PRDM16 0 0 3 0 0 3
PRKD1 0 0 2 1 0 3
PRLR 0 0 3 0 0 3
PROS1 0 0 3 0 0 3
PSAT1 0 2 0 1 0 3
PUS1 0 0 2 1 0 3
QRICH2 0 3 0 0 0 3
RAB23 0 0 3 0 0 3
RAF1 0 0 3 0 0 3
RAPSN 1 0 2 0 0 3
REEP2 0 0 3 0 0 3
REL 0 0 3 0 0 3
REN 1 0 2 0 0 3
RHBDF2 0 0 2 1 0 3
RHOBTB2 0 0 2 0 1 3
RIGI 0 0 3 0 0 3
RLBP1 0 2 1 0 0 3
RMRP 1 1 1 0 0 3
RNASEH2B 1 0 2 0 0 3
RNPC3 0 0 3 0 0 3
RUNX2 0 0 3 0 0 3
SACK1H 0 0 3 0 0 3
SAG 0 0 3 0 0 3
SASH1 0 0 3 0 0 3
SATB2 0 0 2 0 1 3
SC5D 0 0 3 0 0 3
SCN2B 0 0 3 0 0 3
SDR9C7 0 2 1 0 0 3
SEMA3A 0 0 3 0 0 3
SEPTIN12 0 0 3 0 0 3
SERPINF1 0 0 3 0 0 3
SF3B4 0 0 2 1 0 3
SFTPC 0 1 0 2 0 3
SGCB 0 0 3 0 0 3
SHANK3 0 0 2 1 0 3
SI 0 2 1 0 0 3
SIK1 0 0 2 1 0 3
SKIC2 1 2 0 0 0 3
SLC10A1 0 0 3 0 0 3
SLC10A2 0 0 3 0 0 3
SLC11A1 0 0 3 0 0 3
SLC16A2 0 0 2 1 0 3
SLC17A8 0 0 3 0 0 3
SLC26A8 0 0 3 0 0 3
SLC2A2 1 0 2 0 0 3
SLC30A2 0 0 3 0 0 3
SLC35A1 0 0 2 0 1 3
SLC36A1, SLC36A2 0 0 3 0 0 3
SLC45A2 1 2 0 0 0 3
SLC4A4 0 0 3 0 0 3
SLC5A2 0 1 2 0 0 3
SLC6A5 0 0 3 0 0 3
SLITRK1 0 0 3 0 0 3
SLX4 0 2 1 0 0 3
SMAD3 0 0 3 0 0 3
SOHLH1 0 0 2 1 0 3
SOX3 0 0 3 0 0 3
SOX5 0 0 1 2 0 3
SPATA7 0 1 2 0 0 3
SPINK5 1 0 0 0 2 3
SPR 0 1 2 0 0 3
SPRY4 0 0 3 0 0 3
SPTLC1 0 0 3 0 0 3
SRD5A2 1 1 1 0 0 3
STX16, STX16-NPEPL1 0 0 3 0 0 3
SUCLG1 0 1 2 0 0 3
TANC2 0 0 2 1 0 3
TBCD, ZNF750 0 0 3 0 0 3
TBX18 0 0 3 0 0 3
TBX2 0 0 3 0 0 3
TBX20 0 0 3 0 0 3
TCF7L2 0 0 3 0 0 3
TDRD9 0 2 1 0 0 3
TET3 0 0 3 0 0 3
TFRC 0 0 3 0 0 3
TGM5 1 2 0 0 0 3
TLR1 0 0 3 0 0 3
TLR3 0 0 3 0 0 3
TMEM126A 0 1 2 0 0 3
TMEM43 0 0 3 0 0 3
TNNT2 1 0 2 0 0 3
TNNT3 0 0 3 0 0 3
TONSL 0 1 2 0 0 3
TRAF7 0 0 3 0 0 3
TRAPPC9 0 1 2 0 0 3
TRDN 0 2 1 0 0 3
TRMT5 0 2 1 0 0 3
TRMU 0 1 2 0 0 3
TRPM7 0 0 3 0 0 3
TRPV3 0 0 3 0 0 3
TRPV4 0 0 3 0 0 3
TTC21A 0 1 2 0 0 3
TTC7A 0 1 2 0 0 3
TTC8 0 0 3 0 0 3
UCP3 0 0 1 0 2 3
UNC80 0 0 2 1 0 3
UPB1 2 1 0 0 0 3
USP9X 0 0 2 1 0 3
VCL 0 0 3 0 0 3
VIM 0 0 3 0 0 3
VPS33A 0 1 1 0 1 3
VPS35 0 0 3 0 0 3
VWA1 0 1 2 0 0 3
WAC 0 0 2 0 1 3
WASHC5 0 1 2 0 0 3
WDR4 0 1 2 0 0 3
WDR81 0 3 0 0 0 3
ZFYVE26 0 1 2 0 0 3
ZMYND15 0 3 0 0 0 3
ZNF513 0 0 3 0 0 3
A2M, KLRG1 0 0 2 0 0 2
ABCA4, LOC126805793 0 0 2 0 0 2
ABCA5 0 0 2 0 0 2
ABCB6 0 0 2 0 0 2
ABCC1 0 0 2 0 0 2
ABCG5, DYNC2LI1 1 0 1 0 0 2
ABL1 0 0 2 0 0 2
ACADL 0 0 2 0 0 2
ACP4 0 1 1 0 0 2
ACTN4 0 0 2 0 0 2
ACVR1 0 0 2 0 0 2
ACVR2B 0 0 2 0 0 2
ACVRL1 0 0 1 0 1 2
ACYP1, NPC2 0 0 1 0 1 2
ADA 0 1 1 0 0 2
ADA2 1 0 1 0 0 2
ADAM10 0 0 2 0 0 2
ADD3 0 0 2 0 0 2
ADGRA3 0 0 2 0 0 2
ADRB3 0 0 2 0 0 2
ADSL 1 0 1 0 0 2
AFF4 0 0 2 0 0 2
AFG2B 1 1 0 0 0 2
AGRP, ATP6V0D1-DT 0 0 1 0 1 2
AHNAK 0 0 2 0 0 2
AHR 0 0 2 0 0 2
ALAD 0 0 1 0 1 2
ALDH2 0 0 2 0 0 2
AMACR, C1QTNF3-AMACR 0 0 2 0 0 2
AMER1 0 0 0 1 1 2
ANKRD26, LOC130003554 0 0 1 1 0 2
ANKS6 0 0 1 1 0 2
ANTXR1 0 0 2 0 0 2
ANTXR2 0 1 1 0 0 2
AP1B1 0 0 2 0 0 2
AP4M1 0 0 2 0 0 2
AP5Z1 0 2 0 0 0 2
APOA5 1 0 1 0 0 2
APOB, LOC106560211 0 0 2 0 0 2
APOC3 0 0 2 0 0 2
APRT 0 1 1 0 0 2
AQP5 0 0 2 0 0 2
ARHGEF1 0 0 2 0 0 2
ARID1B, LOC129997525 0 0 1 1 0 2
ARMC2 0 0 2 0 0 2
ARSL 0 0 1 1 0 2
ASCL1, PAH 0 0 1 1 0 2
ASPA, SPATA22 1 0 1 0 0 2
ASPM 1 0 1 0 0 2
ATIC 0 0 1 1 0 2
ATP2A2 0 0 2 0 0 2
ATP6V0A2, LOC126861666 0 0 2 0 0 2
ATP6V0A4 1 1 0 0 0 2
ATP6V1B1 0 0 1 0 1 2
ATP8A2 0 0 2 0 0 2
ATXN1 0 0 1 1 0 2
AUH 0 1 0 1 0 2
AUH, LOC130002059 0 0 2 0 0 2
AURKC 1 1 0 0 0 2
AXDND1, NPHS2 2 0 0 0 0 2
B9D2 0 0 2 0 0 2
BAG3 0 0 2 0 0 2
BCL11A 0 0 1 0 1 2
BCL11B 0 0 2 0 0 2
BCOR, LOC126863239 0 0 0 2 0 2
BDP1 0 0 2 0 0 2
BLVRA 0 0 2 0 0 2
BMP4 0 0 2 0 0 2
BMS1 0 0 2 0 0 2
BNC2 0 0 1 1 0 2
BRCA2, LOC106721785 0 1 0 1 0 2
BUB1B 0 0 2 0 0 2
C1QBP 0 1 1 0 0 2
C3 0 0 2 0 0 2
C5, LOC130002496 0 1 1 0 0 2
CA4 0 0 2 0 0 2
CABP4 0 1 1 0 0 2
CACNA1A 0 0 2 0 0 2
CACNA1D, LOC129936904 0 0 2 0 0 2
CACNA1F 0 0 2 0 0 2
CAMK2B 0 0 2 0 0 2
CAPN1 1 0 1 0 0 2
CARD8 0 0 2 0 0 2
CARD9 0 1 1 0 0 2
CASP1 0 0 2 0 0 2
CAV1 0 0 2 0 0 2
CBX2 0 0 2 0 0 2
CCDC33, STRA6 0 1 1 0 0 2
CCDC39 0 1 1 0 0 2
CCDC8 0 1 1 0 0 2
CD3E 0 1 1 0 0 2
CDC45 0 0 2 0 0 2
CDH2 0 0 2 0 0 2
CDH3 1 1 0 0 0 2
CDKN1C 0 0 1 1 0 2
CEACAM16 0 1 1 0 0 2
CELA2A 0 0 2 0 0 2
CEP104 0 1 1 0 0 2
CEP135 0 2 0 0 0 2
CEP290, RLIG1 0 0 1 1 0 2
CEP85L 0 0 2 0 0 2
CERS3 0 1 1 0 0 2
CETP 0 1 1 0 0 2
CFAP44, SPICE1-CFAP44 0 2 0 0 0 2
CFAP96, UFSP2 0 0 1 1 0 2
CFD 0 2 0 0 0 2
CFI 0 1 1 0 0 2
CFTR, LOC111674475 1 0 1 0 0 2
CHAT 0 1 1 0 0 2
CHD3 0 0 2 0 0 2
CHRNA2 0 0 2 0 0 2
CHRNA4 0 0 2 0 0 2
CHRNA5 0 0 2 0 0 2
CHRNG, TIGD1 0 0 1 1 0 2
CHROMR, PRKRA 1 1 0 0 0 2
CLASP1, RNU4ATAC 1 0 1 0 0 2
CLCNKA, LOC106501712 0 0 2 0 0 2
CLCNKB, LOC106501713 0 1 1 0 0 2
CLDN1, CLDN16 0 1 1 0 0 2
CLDN14 0 1 1 0 0 2
CLDN16 0 1 1 0 0 2
CLDN19 0 0 1 1 0 2
CLN5 0 1 1 0 0 2
CLTC 0 1 1 0 0 2
CNTN1 0 0 1 1 0 2
COG4 0 0 2 0 0 2
COLGALT1 0 0 2 0 0 2
COMT 0 0 2 0 0 2
COX20 0 2 0 0 0 2
CPOX, LOC129937121 0 0 2 0 0 2
CREB3L3 0 0 2 0 0 2
CRLF1 0 0 2 0 0 2
CRPPA 0 1 1 0 0 2
CRYAA 0 0 2 0 0 2
CRYAB 0 0 2 0 0 2
CRYBB2 0 0 2 0 0 2
CRYGC, LOC100507443 0 0 2 0 0 2
CSRP3 0 1 1 0 0 2
CTNNB1 0 0 2 0 0 2
CTR9 0 0 1 1 0 2
CTSA 0 1 1 0 0 2
CTSD 0 0 2 0 0 2
CXCR4 0 0 2 0 0 2
CYBA 0 0 1 0 1 2
CYGB, PRCD 0 0 2 0 0 2
CYP11B1, LOC106799833 0 0 2 0 0 2
CYP11B1, LOC110673972 0 0 2 0 0 2
CYP3A4 0 0 2 0 0 2
CYP4F22 1 0 1 0 0 2
DACT1 0 0 0 2 0 2
DBH 0 1 1 0 0 2
DCX 0 0 2 0 0 2
DDX3X 0 0 2 0 0 2
DGUOK 0 0 2 0 0 2
DGUOK, LOC129934096 0 0 1 1 0 2
DHCR24 0 0 2 0 0 2
DHX16 0 0 1 1 0 2
DLAT, PIH1D2 0 0 2 0 0 2
DLL1 0 0 0 1 1 2
DLL4 0 0 2 0 0 2
DLX4 0 0 2 0 0 2
DMGDH 0 1 1 0 0 2
DNA2 0 1 1 0 0 2
DNAAF1 1 0 1 0 0 2
DNAAF19 1 0 1 0 0 2
DNAJC9, FAM149B1 0 0 1 0 1 2
DNMBP 0 0 2 0 0 2
DOCK8 0 2 0 0 0 2
DRD4 0 0 1 1 0 2
DSE, LOC129997035, TSPYL1 0 0 2 0 0 2
DSE, TSPYL1 0 0 1 1 0 2
DSG1, LOC126862720 0 0 1 0 1 2
DSTYK 0 0 2 0 0 2
DTNA 0 0 2 0 0 2
DTNBP1 0 0 1 0 1 2
DVL3 0 0 0 1 1 2
DZIP1 0 0 2 0 0 2
ECEL1 0 1 1 0 0 2
EDN1 0 0 2 0 0 2
EDN3 0 0 2 0 0 2
EFHC1 0 0 2 0 0 2
EFTUD2 0 0 1 1 0 2
EGR2 0 0 2 0 0 2
EHBP1 0 0 2 0 0 2
EIF2AK2 0 0 2 0 0 2
EIF3F 0 1 1 0 0 2
EIF4G3 0 1 1 0 0 2
ELAC2 0 1 0 0 1 2
ELP4, PAX6 0 0 0 1 1 2
EMC1 0 2 0 0 0 2
ENG, LOC102723566 2 0 0 0 0 2
ENO3 0 1 1 0 0 2
EPB41L1 0 0 1 1 0 2
EPB42 0 1 1 0 0 2
EPS8L2 1 1 0 0 0 2
ERF 0 0 1 1 0 2
ETFB 0 0 1 1 0 2
EVC2, LOC126806961 0 0 1 1 0 2
EXOC7 0 0 2 0 0 2
EXT1 0 0 1 1 0 2
EXT2 0 0 1 1 0 2
EZH2 0 0 2 0 0 2
F8 0 0 2 0 0 2
FAM20A, PRKAR1A 0 1 1 0 0 2
FAN1 0 2 0 0 0 2
FANCB 0 0 2 0 0 2
FANCD2, FANCD2OS 0 0 1 0 1 2
FARS2, LOC126859565 1 1 0 0 0 2
FBXO11 0 0 2 0 0 2
FBXO11, LOC100506235 0 0 0 2 0 2
FDFT1 0 0 2 0 0 2
FDXR 1 1 0 0 0 2
FGD1 0 0 2 0 0 2
FGD1, TSR2 0 0 1 1 0 2
FGFR2 0 0 2 0 0 2
FGFR4 0 0 2 0 0 2
FIS1 0 0 2 0 0 2
FKBP10 1 0 1 0 0 2
FKTN 1 0 1 0 0 2
FLT4 0 0 2 0 0 2
FMO3, LOC126805916 1 1 0 0 0 2
FMR1 0 0 2 0 0 2
FN1, LOC126806498 0 0 0 2 0 2
FOXP2 0 0 2 0 0 2
FTCD 1 1 0 0 0 2
FUS 0 0 2 0 0 2
FUT2, LOC105447645 0 0 2 0 0 2
GABBR2 0 0 2 0 0 2
GALK1 0 1 1 0 0 2
GALNS 0 2 0 0 0 2
GALNT13 0 0 2 0 0 2
GAN 0 0 2 0 0 2
GARS1 0 0 2 0 0 2
GATA1 0 0 2 0 0 2
GATA3 0 0 2 0 0 2
GCKR 0 0 2 0 0 2
GDAP2 0 0 2 0 0 2
GDF5 0 0 2 0 0 2
GDNF 0 0 1 0 1 2
GGCX 0 2 0 0 0 2
GH-LCR, GH1 0 0 2 0 0 2
GHRL, GHRLOS 0 0 1 0 1 2
GIGYF2, KCNJ13 0 0 2 0 0 2
GJA3 0 0 2 0 0 2
GJA8 0 0 2 0 0 2
GLCCI1 0 0 2 0 0 2
GLE1, LOC101929270 0 1 1 0 0 2
GLIS2 0 0 2 0 0 2
GMNN 0 0 2 0 0 2
GNAI3 0 0 2 0 0 2
GNB1 0 0 1 1 0 2
GOSR2, LRRC37A2 0 1 1 0 0 2
GP1BA, LOC130060044 0 0 2 0 0 2
GP1BB, SEPT5-GP1BB 0 0 2 0 0 2
GP9 0 0 2 0 0 2
GPD1 0 1 1 0 0 2
GPHN, RDH12 0 0 2 0 0 2
GPHN, RDH12, ZFYVE26 1 0 1 0 0 2
GPI 0 1 1 0 0 2
GPR101 0 0 2 0 0 2
GPR143 0 0 0 1 1 2
GPSM2 1 0 1 0 0 2
GREM2 0 0 2 0 0 2
GRIA4 0 0 1 1 0 2
GRIN2B 0 0 2 0 0 2
GRM1 0 0 2 0 0 2
GRM6 0 0 2 0 0 2
GRXCR1 0 0 2 0 0 2
GSN 0 0 2 0 0 2
GSR 0 0 2 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 0 0 0 2 0 2
GZF1 0 0 2 0 0 2
H1-4 0 0 2 0 0 2
HADHA 1 0 1 0 0 2
HAL 0 0 2 0 0 2
HAMP 0 0 2 0 0 2
HAVCR2 0 0 2 0 0 2
HBB, LOC107133510, LOC110006319 1 0 1 0 0 2
HBD 0 0 2 0 0 2
HCN4 0 0 2 0 0 2
HECW2 0 0 0 2 0 2
HERC1 0 0 2 0 0 2
HGF 0 0 2 0 0 2
HKDC1 0 0 2 0 0 2
HLA-DRB1 0 0 2 0 0 2
HNF1A 0 0 2 0 0 2
HNRNPU 0 0 2 0 0 2
HOXA11, LOC107126281 0 0 2 0 0 2
HOXA2 0 0 2 0 0 2
HPDL 0 0 2 0 0 2
HPS6, LOC130004578 0 1 1 0 0 2
HSF4 0 0 2 0 0 2
HSPG2, LOC126805655 0 0 2 0 0 2
HTR1A 0 0 2 0 0 2
IDH2 0 0 2 0 0 2
IDS, LOC106050102 0 0 2 0 0 2
IFNAR1 0 2 0 0 0 2
IGLL1 0 0 2 0 0 2
IKBKG 0 0 0 1 1 2
IL10 0 0 2 0 0 2
IL17RD 0 0 2 0 0 2
IL36RN 1 1 0 0 0 2
IL4R 0 0 2 0 0 2
IL6ST 0 1 1 0 0 2
INS, INS-IGF2 0 1 0 1 0 2
INSL3 0 0 2 0 0 2
IRAK4 0 2 0 0 0 2
IRF2BP2, LOC129932811 0 0 2 0 0 2
IRS1 0 0 2 0 0 2
IRS2 0 0 2 0 0 2
IRS4 0 0 2 0 0 2
ITCH 0 0 2 0 0 2
ITPKB 0 0 2 0 0 2
ITPR2 0 0 2 0 0 2
IVNS1ABP 0 0 2 0 0 2
KAT8 0 0 2 0 0 2
KBTBD13 0 0 1 1 0 2
KCNC1 0 0 1 1 0 2
KCNE1 0 0 1 1 0 2
KCNH1 0 0 2 0 0 2
KCNJ5 0 0 2 0 0 2
KCNK18 0 1 0 1 0 2
KCNK3 0 0 1 1 0 2
KCNN3 0 0 1 1 0 2
KCNN4 0 0 2 0 0 2
KHK 0 0 2 0 0 2
KIAA0825 0 0 2 0 0 2
KIF11 0 0 2 0 0 2
KIF12 0 0 2 0 0 2
KIF14 0 1 1 0 0 2
KIF5C 0 0 1 1 0 2
KIZ 0 2 0 0 0 2
KL 0 0 2 0 0 2
KMT5B 0 0 1 1 0 2
KNG1 0 0 2 0 0 2
KRT2 0 0 2 0 0 2
KRT5, LOC126861525 0 2 0 0 0 2
KRT5, LOC126861526 0 0 2 0 0 2
KRT6A 0 1 1 0 0 2
KRT8 0 0 1 1 0 2
KRT86 0 0 2 0 0 2
KYNU 1 1 0 0 0 2
L2HGDH 0 0 2 0 0 2
LALTOP, TPO 0 1 1 0 0 2
LARP7 0 0 2 0 0 2
LARS1 0 1 1 0 0 2
LGI1 0 0 2 0 0 2
LHCGR, STON1-GTF2A1L 1 0 1 0 0 2
LIG4 1 0 1 0 0 2
LIX1L, LOC126805851, RBM8A 0 2 0 0 0 2
LMF1 0 1 1 0 0 2
LMO1 0 0 2 0 0 2
LMX1A 0 0 2 0 0 2
LOC106694315, MPO 0 1 1 0 0 2
LOC106736614, RET 0 2 0 0 0 2
LOC106780803, TNXB 0 0 2 0 0 2
LOC107372315, OSGEP 1 1 0 0 0 2
LOC107986822, PON2 0 0 2 0 0 2
LOC108903148, OPTN 0 0 1 0 1 2
LOC110121269, SCN5A 0 0 2 0 0 2
LOC111811965, MIR4733HG, NF1 0 2 0 0 0 2
LOC113687175, TFR2 0 0 2 0 0 2
LOC113788297, NDUFAF6 0 0 2 0 0 2
LOC126805598, PLEKHG5 0 0 1 1 0 2
LOC126805635, PADI6 0 0 2 0 0 2
LOC126806316, PAX8 0 0 2 0 0 2
LOC126806427, TTN 0 0 2 0 0 2
LOC126806433, TTN 0 0 2 0 0 2
LOC126859827, TAB2 0 0 2 0 0 2
LOC126859838, SYNE1 0 0 2 0 0 2
LOC126860131, RELN 0 0 2 0 0 2
LOC126860417, MSC, TRPA1 0 0 2 0 0 2
LOC126860469, ZFPM2 0 0 2 0 0 2
LOC126861106, TUBGCP2 0 0 2 0 0 2
LOC126861242, NDUFV1 0 0 2 0 0 2
LOC126861896, MYH6 0 0 2 0 0 2
LOC126862494, MYH8, MYHAS 0 0 1 1 0 2
LOC129933707, LOC129933708, MSH6 2 0 0 0 0 2
LOC129994346, WDR36 0 0 2 0 0 2
LOC129998680, POR 0 0 2 0 0 2
LOC130005193, SMPD1 0 0 2 0 0 2
LOC130059740, MVD 0 0 2 0 0 2
LOC130061310, RAD51C 0 1 0 1 0 2
LOC130062794, TXNL4A 0 2 0 0 0 2
LOC130063648, MAN2B1 0 1 1 0 0 2
LOC130067016, LZTR1 0 0 1 1 0 2
LOC132090059, PUS1 0 0 2 0 0 2
LORICRIN 0 0 1 1 0 2
LPIN1 0 2 0 0 0 2
LRP12 0 0 2 0 0 2
LRP8 0 0 2 0 0 2
LRRC8A 0 0 0 1 1 2
LSS 0 2 0 0 0 2
LTBP4 0 0 2 0 0 2
M1AP 0 1 1 0 0 2
MAP2K1, SNAPC5 0 0 1 1 0 2
MAP2K3 0 0 2 0 0 2
MAPK8IP1 0 0 2 0 0 2
MAPKBP1 0 1 1 0 0 2
MASP2 0 1 1 0 0 2
MAT1A 0 0 2 0 0 2
MBD5 0 0 0 2 0 2
MC4R 0 0 1 0 1 2
MCC 0 0 2 0 0 2
MCCC1 1 1 0 0 0 2
MCM8 1 0 1 0 0 2
MCM9 0 2 0 0 0 2
MCPH1 0 2 0 0 0 2
MECR 1 0 1 0 0 2
MED12 0 0 1 1 0 2
MED12L 0 0 2 0 0 2
MED25 0 1 1 0 0 2
MEGF10 0 1 1 0 0 2
MGAT2 0 0 2 0 0 2
MIB1 0 0 2 0 0 2
MLIP 0 2 0 0 0 2
MMAA 1 0 1 0 0 2
MMADHC 1 1 0 0 0 2
MMP9 0 1 1 0 0 2
MNX1 0 0 2 0 0 2
MORC2 0 0 1 1 0 2
MPEG1 0 0 2 0 0 2
MPZ 0 0 2 0 0 2
MSL3 0 0 2 0 0 2
MSR1 0 0 2 0 0 2
MT1F 0 0 2 0 0 2
MTAP 0 0 1 1 0 2
MTMR2 0 1 1 0 0 2
MUSK 0 2 0 0 0 2
MVK 1 0 1 0 0 2
MYH7B 0 0 2 0 0 2
MYO1H 0 0 2 0 0 2
MYO9B 0 0 2 0 0 2
MYOCD 0 0 2 0 0 2
MYORG 0 1 1 0 0 2
MYOT, PKD2L2-DT 0 0 2 0 0 2
MYSM1 0 0 2 0 0 2
NBAS 1 0 1 0 0 2
NBEAL2 0 1 1 0 0 2
NCF4 0 0 2 0 0 2
NDRG1 0 0 2 0 0 2
NDUFAF7 0 0 2 0 0 2
NDUFV2 0 1 1 0 0 2
NEDD4L 0 0 1 1 0 2
NEK8 0 2 0 0 0 2
NEUROD1 0 0 2 0 0 2
NGLY1 1 1 0 0 0 2
NHERF1, SLC9A3R1 0 0 2 0 0 2
NLRP3 0 0 2 0 0 2
NPHP3-ACAD11, UBA5 1 0 1 0 0 2
NPRL2 0 0 2 0 0 2
NR3C1 0 0 2 0 0 2
NR3C2 0 0 2 0 0 2
NRL 0 1 1 0 0 2
NTN1 0 0 2 0 0 2
NTRK2 0 0 2 0 0 2
NUMA1 0 0 2 0 0 2
NUP188 0 1 1 0 0 2
NUP37 0 0 1 0 1 2
NUP85 0 0 2 0 0 2
NUP93 0 2 0 0 0 2
OAT 1 0 1 0 0 2
ODAD1 1 1 0 0 0 2
OFD1 0 0 0 2 0 2
OGDHL 0 0 2 0 0 2
OPTN 0 2 0 0 0 2
ORC6 0 2 0 0 0 2
PACS2 0 0 1 1 0 2
PADI6 0 1 1 0 0 2
PAFAH1B1 0 0 1 1 0 2
PARS2 0 1 1 0 0 2
PAX9 0 0 2 0 0 2
PCCA 0 1 1 0 0 2
PCCB 0 0 2 0 0 2
PCDH19 0 0 2 0 0 2
PDCD10 0 0 2 0 0 2
PDE10A 0 1 1 0 0 2
PDE1C 0 0 2 0 0 2
PDE1C, PPP1R17 0 0 2 0 0 2
PDHB 0 1 1 0 0 2
PFKM 0 0 2 0 0 2
PHGDH 1 1 0 0 0 2
PHKA1 0 0 2 0 0 2
PHYH 0 1 1 0 0 2
PIBF1 0 0 1 1 0 2
PIGG 1 0 1 0 0 2
PINK1 1 1 0 0 0 2
PISD 0 1 1 0 0 2
PITRM1 0 1 1 0 0 2
PLCB4 0 0 2 0 0 2
PLD1 0 2 0 0 0 2
PNKP 2 0 0 0 0 2
PNPLA1 0 1 1 0 0 2
POC1A 0 0 2 0 0 2
POLG, POLGARF 0 0 2 0 0 2
POLR2A 0 0 1 1 0 2
PPM1D 0 0 2 0 0 2
PRCC 0 0 2 0 0 2
PRDM5 0 1 1 0 0 2
PRIMPOL 0 0 2 0 0 2
PRKCG 0 0 2 0 0 2
PRKDC 0 0 2 0 0 2
PRKG1 0 0 2 0 0 2
PRPH, TROAP 0 0 2 0 0 2
PSEN1 0 0 2 0 0 2
PSPH 0 0 2 0 0 2
PTPN23 0 0 2 0 0 2
PTPRC 0 0 2 0 0 2
PUF60 0 0 1 1 0 2
PUM1 0 0 2 0 0 2
PURA 0 0 0 2 0 2
QRICH1 0 0 2 0 0 2
RAD21 0 0 2 0 0 2
RAX 0 0 2 0 0 2
RBP4 0 0 2 0 0 2
RCBTB1 0 0 2 0 0 2
RDX 0 0 2 0 0 2
RELT 0 1 1 0 0 2
RETREG1 0 0 2 0 0 2
RFC1 0 0 2 0 0 2
RFXANK 0 2 0 0 0 2
RGS9BP 0 0 2 0 0 2
RIC1 0 0 2 0 0 2
RIMS2 0 1 1 0 0 2
RIPK1 0 0 2 0 0 2
RIPK4 0 0 2 0 0 2
RNF113A 0 0 2 0 0 2
RNF139 0 0 2 0 0 2
RNF212 0 0 2 0 0 2
ROGDI 0 1 1 0 0 2
RORC 0 0 2 0 0 2
RP2 0 0 1 1 0 2
RPS24 0 0 2 0 0 2
RRM2B 0 0 1 1 0 2
RSPH1 1 1 0 0 0 2
RSPH4A 1 1 0 0 0 2
RSPO2 0 1 1 0 0 2
RTN4IP1 0 1 1 0 0 2
RUSC2 0 0 2 0 0 2
SAMD11 0 0 2 0 0 2
SBF1 0 0 2 0 0 2
SCD5 0 0 2 0 0 2
SCN8A 0 0 2 0 0 2
SCUBE3 0 1 1 0 0 2
SCYL1 0 0 2 0 0 2
SDCCAG8 1 1 0 0 0 2
SERPINA7 0 0 0 1 1 2
SERPINB8 0 2 0 0 0 2
SET 0 0 2 0 0 2
SHANK2 0 0 1 1 0 2
SIAE 0 0 2 0 0 2
SIN3A 0 0 2 0 0 2
SLC12A5 0 0 2 0 0 2
SLC17A9 0 0 2 0 0 2
SLC1A4 1 1 0 0 0 2
SLC25A11 0 0 2 0 0 2
SLC25A22 0 0 2 0 0 2
SLC27A4 1 1 0 0 0 2
SLC2A10 0 0 2 0 0 2
SLC30A9 0 0 2 0 0 2
SLC34A3 0 2 0 0 0 2
SLC35D1 0 1 1 0 0 2
SLC36A2 0 0 2 0 0 2
SLC44A4 0 0 2 0 0 2
SLC52A1 0 0 2 0 0 2
SLC52A2 0 0 2 0 0 2
SLC7A7 0 1 1 0 0 2
SLCO1B3, SLCO1B3-SLCO1B7 0 1 1 0 0 2
SLCO2A1 0 2 0 0 0 2
SLURP1 1 0 1 0 0 2
SNCA 0 0 2 0 0 2
SNHG14, UBE3A 0 0 1 1 0 2
SNRNP200 0 0 2 0 0 2
SORD 2 0 0 0 0 2
SORL1 0 0 2 0 0 2
SP110 0 0 2 0 0 2
SPAG1 0 2 0 0 0 2
SPAST 0 0 1 1 0 2
SPEG 0 1 1 0 0 2
SPG11 0 1 1 0 0 2
SPNS2 0 0 2 0 0 2
SRP72 0 0 1 0 1 2
SRPX2 0 0 1 1 0 2
STAG1 0 0 0 2 0 2
STAG2 0 0 1 1 0 2
STARD7 0 0 2 0 0 2
STAT3 0 0 1 0 1 2
STAT5B 0 0 2 0 0 2
STEAP3 0 0 2 0 0 2
STIL 0 0 2 0 0 2
STK36 0 2 0 0 0 2
STS 0 0 2 0 0 2
SUMF1 0 1 1 0 0 2
SYT2 0 0 2 0 0 2
TARS2 0 1 1 0 0 2
TBC1D32 0 0 2 0 0 2
TBX22 0 0 2 0 0 2
TBX4 0 0 2 0 0 2
TBX5 0 0 1 1 0 2
TBX6 0 0 2 0 0 2
TBXA2R 0 0 2 0 0 2
TBXAS1 0 1 1 0 0 2
TBXT 0 0 2 0 0 2
TCF4 0 0 2 0 0 2
TCTN3 0 0 2 0 0 2
TERT 0 0 1 1 0 2
TET2 0 1 1 0 0 2
TFE3 0 0 1 1 0 2
TGDS 1 0 1 0 0 2
TGFB1 0 0 2 0 0 2
TGFBI 0 0 2 0 0 2
TICAM1 0 0 1 1 0 2
TIMMDC1 1 0 1 0 0 2
TK2 0 2 0 0 0 2
TLL1 0 0 2 0 0 2
TLR10 0 0 2 0 0 2
TLR4 0 0 2 0 0 2
TMCO1 1 1 0 0 0 2
TMEM138 0 0 1 1 0 2
TNFRSF11A 0 0 2 0 0 2
TNFRSF11B 0 0 2 0 0 2
TNNI2 0 0 1 1 0 2
TNRC6A 0 0 2 0 0 2
TOGARAM1 0 2 0 0 0 2
TOP6BL 0 0 2 0 0 2
TPO 0 1 1 0 0 2
TRAPPC6B 1 0 1 0 0 2
TRIT1 0 1 1 0 0 2
TRPM1 0 2 0 0 0 2
TRPM6 0 0 2 0 0 2
TRPS1 0 0 2 0 0 2
TSFM 0 0 2 0 0 2
TSHB 0 0 2 0 0 2
TTC19 0 0 2 0 0 2
TTPA 1 0 1 0 0 2
TUBA4A 0 0 1 1 0 2
TUBB1 0 1 1 0 0 2
TUBB6 0 0 2 0 0 2
TUBB8 0 1 1 0 0 2
TWIST1 0 0 1 1 0 2
TXNRD2 0 0 2 0 0 2
TYMP 0 0 2 0 0 2
UBA1 0 0 2 0 0 2
UBE3B 0 1 1 0 0 2
UBIAD1 0 0 2 0 0 2
UGDH 0 0 2 0 0 2
UQCRB 0 0 1 1 0 2
VAPB 0 0 1 1 0 2
VEGFA 0 0 2 0 0 2
VPS13C 0 0 2 0 0 2
VPS51 0 0 2 0 0 2
VSX2 0 1 1 0 0 2
WNT2B 0 0 2 0 0 2
WNT4 0 0 2 0 0 2
WNT7A 0 0 2 0 0 2
XPA 0 0 1 1 0 2
XPNPEP2 0 0 2 0 0 2
YARS2 0 1 1 0 0 2
ZFP57 0 0 2 0 0 2
ZGRF1 0 0 1 1 0 2
ZMPSTE24 1 0 1 0 0 2
ZNF335 0 2 0 0 0 2
ZNF644 0 0 2 0 0 2
ZP1 1 1 0 0 0 2
ZP2 1 0 1 0 0 2
A4GALT 0 0 1 0 0 1
AAGAB 0 0 0 1 0 1
AARS2, POLR1C 0 0 1 0 0 1
AASS 0 0 1 0 0 1
ABCA2 0 0 1 0 0 1
ABCB1 0 0 1 0 0 1
ABCB7 0 0 0 1 0 1
ABCC9 0 0 1 0 0 1
ABCC9, KCNJ8 0 0 1 0 0 1
ABCD4 0 1 0 0 0 1
ABHD14A-ACY1, ACY1 0 1 0 0 0 1
ABHD5 0 0 1 0 0 1
ABHD5, ANO10 0 0 1 0 0 1
ABL1, LOC107980440 0 0 0 1 0 1
ABO 0 0 0 0 1 1
ABRAXAS1 0 0 1 0 0 1
ABRAXAS1, LOC129992784 0 0 1 0 0 1
ACAD11, NPHP3-ACAD11, UBA5 0 0 1 0 0 1
ACAD8 0 1 0 0 0 1
ACADVL 1 0 0 0 0 1
ACBD6, LHX4 0 0 1 0 0 1
ACHE 0 0 1 0 0 1
ACKR1 0 0 0 1 0 1
ACO2, POLR3H 0 0 1 0 0 1
ACOX2 0 1 0 0 0 1
ACP5 0 0 1 0 0 1
ACSL4 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACTG2 0 0 1 0 0 1
ACTN1 0 0 1 0 0 1
ACTN3 0 0 1 0 0 1
ADAM17, IAH1 0 1 0 0 0 1
ADAM9 0 1 0 0 0 1
ADAMTS17 0 0 1 0 0 1
ADAMTS18 0 0 1 0 0 1
ADAMTS3 0 0 1 0 0 1
ADCY10, DCAF6 0 0 1 0 0 1
ADGRG1 1 0 0 0 0 1
ADGRL1 0 0 1 0 0 1
ADNP 0 0 0 1 0 1
ADNP, DPM1 0 1 0 0 0 1
AFG2B, LOC130056998 0 1 0 0 0 1
AFG3L2 0 0 1 0 0 1
AGBL2 0 0 1 0 0 1
AGPAT2 0 1 0 0 0 1
AGPS, LOC129935172 0 0 1 0 0 1
AGRN 0 1 0 0 0 1
AGTPBP1 0 0 1 0 0 1
AGTPBP1, LOC130001960 0 0 1 0 0 1
AHR, LOC129998012 0 0 1 0 0 1
AIMP2 0 0 0 1 0 1
AKAP10 0 0 1 0 0 1
AKAP9, LOC121175350 0 0 1 0 0 1
AKR1C2, LOC101928051 0 0 0 1 0 1
ALAS2, LOC108663984 0 0 0 0 1 1
ALDH1A3 0 0 1 0 0 1
ALDH1B1 0 0 1 0 0 1
ALDH4A1 0 0 1 0 0 1
ALDH5A1, GPLD1, LOC129995978 0 0 1 0 0 1
ALG1, EEF2KMT 0 0 1 0 0 1
ALG1, LOC130058383 0 0 1 0 0 1
ALG10B 0 0 1 0 0 1
ALG11, ATP7B 0 0 1 0 0 1
ALG12 0 1 0 0 0 1
ALG2 0 1 0 0 0 1
ALG8 1 0 0 0 0 1
ALKBH8 0 0 1 0 0 1
ALX1 0 0 1 0 0 1
AMBN 0 0 1 0 0 1
AMELX, ARHGAP6 0 0 1 0 0 1
AMPD3 0 0 1 0 0 1
AMTN 0 0 1 0 0 1
ANAPC1 0 0 1 0 0 1
ANG, EGILA, RNASE4 0 0 1 0 0 1
ANGPT2, MCPH1 0 1 0 0 0 1
ANGPTL3, DOCK7 1 0 0 0 0 1
ANGPTL4 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
ANK3 0 0 1 0 0 1
ANLN, MATCAP2 0 0 1 0 0 1
ANO6 0 1 0 0 0 1
ANXA11, LOC130004184 0 0 0 1 0 1
AP2M1 0 0 1 0 0 1
AP3B2, CPEB1, LOC113939947 0 1 0 0 0 1
AP4B1 1 0 0 0 0 1
AP4S1 0 0 1 0 0 1
APBB1, SMPD1 1 0 0 0 0 1
APOA1 0 0 0 0 1 1
APOA2 0 0 1 0 0 1
APOBEC3A, APOBEC3B 0 0 0 0 1 1
APOBEC3B, LOC126863151 0 0 0 0 1 1
APP, LOC126653330 0 0 1 0 0 1
AQP7 0 0 1 0 0 1
ARCN1 0 0 1 0 0 1
AREL1, MLH3 0 0 0 0 1 1
ARFGEF1 0 0 1 0 0 1
ARG1, MED23 0 1 0 0 0 1
ARHGAP44, MYOCD 0 0 0 1 0 1
ARHGEF18 0 1 0 0 0 1
ARID1A, LOC129929837 0 0 1 0 0 1
ARL6 0 0 1 0 0 1
ARMC9, LOC122861306 0 1 0 0 0 1
ARMS2, HTRA1 0 0 1 0 0 1
ARR3 0 0 1 0 0 1
ARSB, LOC129994126 0 0 1 0 0 1
ARSG 0 1 0 0 0 1
ARV1 0 0 1 0 0 1
ASB10 0 0 1 0 0 1
ASB14, LOC105377102 0 0 1 0 0 1
ASNS, CZ1P-ASNS 0 1 0 0 0 1
ASPN, CENPP 0 0 1 0 0 1
ASPRV1, LOC122757966 0 0 1 0 0 1
ASRGL1 0 0 1 0 0 1
ATG7 0 0 1 0 0 1
ATL3 0 0 1 0 0 1
ATL3, LNCROPM 0 0 1 0 0 1
ATM, LOC130006700 0 1 0 0 0 1
ATP11C 0 0 1 0 0 1
ATP12A, LOC130009399 0 0 1 0 0 1
ATP1A1 0 0 0 1 0 1
ATP1A2 0 0 1 0 0 1
ATP2C1 0 0 1 0 0 1
ATP6AP1 0 0 1 0 0 1
ATP6V0A1 0 0 1 0 0 1
ATP6V1B2 0 0 1 0 0 1
ATP7A 0 0 1 0 0 1
ATXN10, LOC107181287, LOC108660404 0 0 1 0 0 1
ATXN2 0 0 0 1 0 1
ATXN2, LOC130008791 0 1 0 0 0 1
AUTS2 0 0 0 1 0 1
AVIL 0 0 1 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GALT9 0 0 1 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 1
B4GALT1 0 0 1 0 0 1
B4GALT7, LOC129995400 0 0 1 0 0 1
B9D1, LOC130060455 0 0 1 0 0 1
BCAM 0 1 0 0 0 1
BCAT2 0 0 1 0 0 1
BCKDHA 0 0 1 0 0 1
BCORL1 0 0 0 1 0 1
BDNF 0 0 1 0 0 1
BFSP1 0 0 1 0 0 1
BGN 0 0 1 0 0 1
BHLHA9 0 0 1 0 0 1
BICD2 0 0 1 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 1 0 0 1
BLK, LOC126860303 0 0 1 0 0 1
BLNK 0 0 1 0 0 1
BLOC1S1-RDH5, CD63, RDH5 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 0 1 0 0 1
BLOC1S3 0 0 1 0 0 1
BLOC1S6 0 0 1 0 0 1
BMP1 0 0 1 0 0 1
BMP15 0 0 1 0 0 1
BNC1 0 0 1 0 0 1
BRDT 0 0 1 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 1 0 0 0 1
BTNL2, TSBP1 0 0 1 0 0 1
BUB1B, BUB1B-PAK6 0 0 1 0 0 1
C10orf55, LOC126860960, PLAU 0 0 1 0 0 1
C10orf55, LOC130004104, PLAU 0 0 1 0 0 1
C10orf55, PLAU 0 0 1 0 0 1
C14orf39, SIX6 0 0 1 0 0 1
C1GALT1C1 0 0 0 1 0 1
C1QC 0 1 0 0 0 1
C1R 0 0 1 0 0 1
C1S 0 0 1 0 0 1
C2orf69, LOC129935377 0 0 1 0 0 1
C4A 0 0 1 0 0 1
C8A 0 1 0 0 0 1
C8orf74 0 0 1 0 0 1
CA12 0 1 0 0 0 1
CA5A 1 0 0 0 0 1
CABP2 0 0 1 0 0 1
CACNA1A, LOC130063717 0 0 1 0 0 1
CACNA1B, LOC100133077 0 1 0 0 0 1
CACNA1I 0 0 1 0 0 1
CACNB4 0 0 1 0 0 1
CACNG2 0 0 1 0 0 1
CALR 0 0 1 0 0 1
CAMK2G 0 0 1 0 0 1
CAPN12 0 0 1 0 0 1
CAPN13 0 0 1 0 0 1
CAPN14 0 0 1 0 0 1
CAPN3, LOC130056921 0 0 1 0 0 1
CARMIL2 0 0 1 0 0 1
CASP8 0 0 1 0 0 1
CAT 0 0 1 0 0 1
CATIP, PNKD 0 0 0 1 0 1
CATSPER2 0 0 1 0 0 1
CAV3, OXTR 0 1 0 0 0 1
CAVIN1 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CC2D2A, FBXL5 0 0 1 0 0 1
CCDC158 0 0 1 0 0 1
CCDC170, LOC107986528 0 0 1 0 0 1
CCDC22 0 0 1 0 0 1
CCDC28B 0 0 1 0 0 1
CCDC30, LOC129930344, PPCS 0 0 1 0 0 1
CCDC39, TTC14 0 0 1 0 0 1
CCDC40, GAA 1 0 0 0 0 1
CCDC85C, CCNK 0 0 1 0 0 1
CCL2 0 0 1 0 0 1
CCL2, LOC126862536 0 0 1 0 0 1
CCL5 0 0 0 1 0 1
CCND2 0 0 0 1 0 1
CCR5, CCR5AS 0 0 1 0 0 1
CD151 0 0 1 0 0 1
CD207 0 0 1 0 0 1
CD247 1 0 0 0 0 1
CDAN1 0 1 0 0 0 1
CDCA3, GNB3 0 0 1 0 0 1
CDCA7 0 0 1 0 0 1
CDCA7L, DNAH11 0 0 1 0 0 1
CDCA8 0 0 1 0 0 1
CDH1, LOC130059290 0 0 1 0 0 1
CDH15, LOC130059794 0 0 1 0 0 1
CDK10 0 1 0 0 0 1
CDK4, LOC130008148 0 0 1 0 0 1
CDKL5, RS1 0 0 1 0 0 1
CDKN2B 0 0 1 0 0 1
CEBPE 0 0 1 0 0 1
CENPE 0 0 1 0 0 1
CENPF, LOC126806006 0 1 0 0 0 1
CENPU, PRIMPOL 0 0 1 0 0 1
CEP104, LOC126805586 0 1 0 0 0 1
CEP112 0 0 1 0 0 1
CEP152 0 1 0 0 0 1
CEP78 0 1 0 0 0 1
CEP85L, PLN 0 0 0 0 1 1
CERKL 1 0 0 0 0 1
CERKL, LOC129935214 1 0 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 1
CERS5, LOC130007880 0 0 1 0 0 1
CERT1 0 0 1 0 0 1
CFAP410 1 0 0 0 0 1
CFAP418, LOC130000784 0 0 1 0 0 1
CFAP53 0 1 0 0 0 1
CFAP69 0 1 0 0 0 1
CFAP91 0 0 1 0 0 1
CFAP91, LOC129937328 0 0 1 0 0 1
CFB 0 0 1 0 0 1
CFC1 0 0 1 0 0 1
CFHR1 0 0 1 0 0 1
CFHR3 0 0 1 0 0 1
CFTR, LOC111674477 0 0 1 0 0 1
CHCHD10 0 0 1 0 0 1
CHD1 0 0 0 1 0 1
CHD1, LOC126807465 0 0 0 1 0 1
CHD3, LOC126862484 0 0 1 0 0 1
CHD3, NAA38 0 0 1 0 0 1
CHM, LOC129391306 0 0 1 0 0 1
CHN1 0 0 1 0 0 1
CHRNA3 0 1 0 0 0 1
CHRNB1 0 0 1 0 0 1
CHRNB2 0 0 1 0 0 1
CHRNE 0 0 1 0 0 1
CHRNE, LOC130060040 0 0 1 0 0 1
CHRNE, LOC130060041 0 0 1 0 0 1
CHST10, LOC129934447 0 0 1 0 0 1
CHST11 0 0 1 0 0 1
CHST3 0 1 0 0 0 1
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 1 0 0 1
CIB1, LOC130057907 0 1 0 0 0 1
CIC, LOC130064572 0 0 0 1 0 1
CIDEC 0 0 1 0 0 1
CISD2, SLC9B1 0 0 1 0 0 1
CISH 0 0 1 0 0 1
CITED2, LOC129997307 0 0 1 0 0 1
CLCN4 0 0 1 0 0 1
CLCN5 0 0 1 0 0 1
CLCN7 0 0 1 0 0 1
CLEC1A 0 0 1 0 0 1
CLIP1 0 0 1 0 0 1
CLN3 0 0 1 0 0 1
CLN5, LOC130009913 0 0 1 0 0 1
CLPX 0 0 1 0 0 1
CLTC, LOC126862609 0 0 1 0 0 1
CMYA5 0 0 1 0 0 1
CNNM2 0 0 1 0 0 1
CNNM4 0 1 0 0 0 1
CNOT2 0 0 0 1 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 1
CNTN2 0 1 0 0 0 1
CNTNAP1 0 1 0 0 0 1
CNTNAP2 1 0 0 0 0 1
COG5 0 0 1 0 0 1
COG6 0 1 0 0 0 1
COG7 0 0 1 0 0 1
COG8 0 1 0 0 0 1
COL11A1, LOC126805814 0 0 1 0 0 1
COL27A1, LOC126860736 0 0 1 0 0 1
COL4A1, LOC126861856 0 0 1 0 0 1
COL4A5 0 0 1 0 0 1
COL6A6 0 0 1 0 0 1
COLQ 0 0 1 0 0 1
COPA 0 0 1 0 0 1
COQ4 0 0 1 0 0 1
CORIN 0 0 1 0 0 1
COX10 0 0 1 0 0 1
COX20, LOC129932912 0 0 1 0 0 1
COX4I1 0 0 1 0 0 1
COX4I2 0 0 1 0 0 1
CP, HPS3 0 0 1 0 0 1
CPA1 0 1 0 0 0 1
CPAMD8 0 0 1 0 0 1
CPAP 0 0 1 0 0 1
CPAP, RNF17 0 0 1 0 0 1
CPLX1 0 0 1 0 0 1
CPOX 1 0 0 0 0 1
CPT2, LOC129930561 0 0 1 0 0 1
CR1 0 0 1 0 0 1
CRAT 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
CRIPTO 0 0 1 0 0 1
CRP 0 0 1 0 0 1
CRTC1 0 0 1 0 0 1
CRYBA4 0 0 0 0 1 1
CRYBA4, CRYBB1 0 1 0 0 0 1
CRYGA 0 0 1 0 0 1
CRYGS 0 0 1 0 0 1
CSF2RA 0 0 1 0 0 1
CSF3R 0 0 1 0 0 1
CSGALNACT1 0 0 1 0 0 1
CSPP1 0 1 0 0 0 1
CST3, LOC130065547 0 0 0 0 1 1
CSTA 0 1 0 0 0 1
CTC1, PFAS 0 0 1 0 0 1
CTH 1 0 0 0 0 1
CTHRC1 0 0 1 0 0 1
CTNNA1, LRRTM2 1 0 0 0 0 1
CTNNA2 0 0 1 0 0 1
CTSB 0 0 1 0 0 1
CUL3 0 0 1 0 0 1
CUL7 0 1 0 0 0 1
CUX2 0 0 1 0 0 1
CX3CR1 0 0 1 0 0 1
CXCR1 0 0 1 0 0 1
CYB5R3 0 0 1 0 0 1
CYBB 0 0 1 0 0 1
CYBRD1 0 0 1 0 0 1
CYFIP2, NIPAL4-DT 0 0 0 1 0 1
CYLD 0 0 1 0 0 1
CYLD, NOD2 1 0 1 0 0 1
CYP11B1 0 0 1 0 0 1
CYP11B2, LOC106799834 0 1 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
CYP26B1 0 0 1 0 0 1
CYP26C1 0 0 1 0 0 1
CYP2B6 0 0 1 0 0 1
CYP2C8 0 0 1 0 0 1
CYP2C9 0 0 1 0 0 1
CYP2D6 0 0 1 0 0 1
CYP2U1, SGMS2 0 0 1 0 0 1
CYP4V2 0 0 1 0 0 1
CYP7B1 1 0 0 0 0 1
DAAM2 0 0 1 0 0 1
DAG1 0 0 1 0 0 1
DALRD3 0 0 1 0 0 1
DBNL, LOC129998343, PGAM2 0 0 1 0 0 1
DBNL, PGAM2 0 1 0 0 0 1
DCAF17, METTL8 0 1 0 0 0 1
DCAF6 0 0 1 0 0 1
DCDC2 1 0 0 0 0 1
DCPS, GSEC 0 0 1 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DCXR, LOC130061998 0 0 1 0 0 1
DDB2, LOC126861205 0 0 1 0 0 1
DDHD1 0 1 0 0 0 1
DDHD2 0 1 0 0 0 1
DDX25, HYLS1, PUS3 1 0 0 0 0 1
DDX59 0 0 1 0 0 1
DEGS1 0 0 1 0 0 1
DGAT1, LOC130001383 0 0 1 0 0 1
DHODH 0 0 1 0 0 1
DHPS 0 1 0 0 0 1
DHX30 0 0 1 0 0 1
DHX38 0 0 1 0 0 1
DIP2B 0 0 1 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DLC1 0 0 1 0 0 1
DLL3, LOC130064417 0 0 1 0 0 1
DLST 0 0 1 0 0 1
DLX3 0 0 1 0 0 1
DLX5 0 0 1 0 0 1
DM1, DMPK, LOC107075317 0 0 1 0 0 1
DM1, LOC107075317, SIX5 0 0 1 0 0 1
DNAAF3 0 1 0 0 0 1
DNAAF5 0 1 0 0 0 1
DNAH10, DNAH10OS 0 0 1 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 1
DNAH17, LOC126862654 0 1 0 0 0 1
DNAH17, LOC126862656 0 0 1 0 0 1
DNAH5, LOC107457585 0 0 1 0 0 1
DNAH6 0 0 1 0 0 1
DNAH7 0 0 1 0 0 1
DNAH9, LOC126862505 0 0 1 0 0 1
DNAH9, LOC126862506 0 0 1 0 0 1
DNAJB2 0 1 0 0 0 1
DNAJC21 0 1 0 0 0 1
DNAJC30, LOC129998603 0 1 0 0 0 1
DNAJC6 0 0 1 0 0 1
DNAJC9, MRPS16 0 0 1 0 0 1
DNASE1 0 0 1 0 0 1
DNASE1L1, LOC130068869, TAFAZZIN 0 0 1 0 0 1
DNASE1L3 0 1 0 0 0 1
DOCK3 0 0 1 0 0 1
DOCK7 0 1 0 0 0 1
DOCK8, LOC126860552 0 0 1 0 0 1
DOLK 0 0 1 0 0 1
DPF2 0 0 1 0 0 1
DPH1 0 0 1 0 0 1
DPH5, SLC30A7 0 0 1 0 0 1
DPM1, LOC130066166 0 0 1 0 0 1
DPY19L2 0 0 1 0 0 1
DRAM2 0 1 0 0 0 1
DRC2 0 1 0 0 0 1
DRD3 0 0 1 0 0 1
DRD5, SLC2A9 0 0 1 0 0 1
DRG2 0 0 1 0 0 1
DSC2, DSG2 0 0 1 0 0 1
DSE 0 0 1 0 0 1
DSG1, DSG4 0 1 0 0 0 1
DSG2, LOC130062340 0 0 1 0 0 1
DTHD1 0 0 1 0 0 1
DUT 1 0 0 0 0 1
DYRK1A 0 0 1 0 0 1
E2F6 0 1 0 0 0 1
EBP 0 0 0 1 0 1
EDA 0 0 1 0 0 1
EDNRA 0 0 1 0 0 1
EEF2 0 0 1 0 0 1
EFEMP1 0 0 1 0 0 1
EFEMP2 0 0 1 0 0 1
EHMT2, SLC44A4 0 0 1 0 0 1
EIF2AK1 0 0 1 0 0 1
EIF2B1 0 0 1 0 0 1
EIF2B5 1 0 0 0 0 1
EIF4G1 0 0 1 0 0 1
ELMOD3 0 0 1 0 0 1
ELOVL4 0 0 1 0 0 1
EMC10, GARIN5A 0 0 1 0 0 1
EMD 0 0 1 0 0 1
EMP2 0 0 1 0 0 1
EMX2, EMX2OS 0 0 0 1 0 1
ENTPD1 0 1 0 0 0 1
EOMES, LOC129936390 0 0 1 0 0 1
EP300, LOC126863158 0 0 1 0 0 1
EPCAM, MSH2 1 0 0 0 0 1
EPG5 0 1 0 0 0 1
EPHB2 0 0 1 0 0 1
EPHB4, SLC12A9 0 0 1 0 0 1
EPHX2 0 0 1 0 0 1
EPN3 0 0 1 0 0 1
EPS8L3 0 0 1 0 0 1
EPX 0 0 1 0 0 1
ERCC6, LOC126860933 0 0 1 0 0 1
ERLIN2 0 1 0 0 0 1
ERMARD 0 0 1 0 0 1
ESR1, SYNE1 0 0 1 0 0 1
ESR2, LOC130055821 0 0 1 0 0 1
EXOC8 0 0 1 0 0 1
EXOSC2 0 0 1 0 0 1
EXOSC2, LOC130002815 0 0 1 0 0 1
EXOSC3 1 0 0 0 0 1
EXPH5 0 1 0 0 0 1
EYA1 0 0 1 0 0 1
F9 0 0 0 0 1 1
FAH, LOC112272621 0 0 1 0 0 1
FAM83H 0 1 0 0 0 1
FAN1, MTMR10 0 1 0 0 0 1
FANCA, LOC112486223 0 0 1 0 0 1
FANCA, ZNF276 0 0 0 1 0 1
FANCF, LOC130005443 0 0 1 0 0 1
FAR1 0 1 0 0 0 1
FAT1, LOC126807253 0 0 0 0 1 1
FAT1, LOC132090718 0 0 0 0 1 1
FBXL4 0 1 0 0 0 1
FBXO38 0 0 1 0 0 1
FCGR1A, H2BC18 0 0 1 0 0 1
FCGR2B 0 0 1 0 0 1
FCGR3A 0 0 1 0 0 1
FCN3 0 0 1 0 0 1
FDFT1, LOC129999907 0 0 1 0 0 1
FECH, LOC130062555 0 0 0 0 1 1
FERMT1 0 0 1 0 0 1
FERRY3 0 0 1 0 0 1
FFAR4 0 0 1 0 0 1
FGF10 0 0 0 1 0 1
FGF14 0 0 0 1 0 1
FGF16 0 0 1 0 0 1
FGF23 0 0 1 0 0 1
FGF8 0 0 1 0 0 1
FGFR1, LOC102723716 0 0 1 0 0 1
FHL1 0 0 1 0 0 1
FIMP1, TLCD3B 0 0 1 0 0 1
FITM2 0 0 1 0 0 1
FKBP14 1 0 0 0 0 1
FKBP1A, FKBP1A-SDCBP2 0 0 1 0 0 1
FLAD1 1 0 0 0 0 1
FLI1 0 0 1 0 0 1
FLRT3, MACROD2 0 0 1 0 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 0 0 1 0 0 1
FOLR1 0 1 0 0 0 1
FOXC1, LOC129995600 0 0 0 1 0 1
FOXC1, LOC129995601 0 0 1 0 0 1
FOXD3 0 0 1 0 0 1
FOXJ1 0 0 1 0 0 1
FOXJ1, LOC130061707 0 0 1 0 0 1
FOXP1 0 0 1 0 0 1
FREM1, LOC126860582 0 0 1 0 0 1
FRMD4A 0 0 1 0 0 1
FRMD7 0 0 1 0 0 1
FTO 0 0 1 0 0 1
FUCA1 0 0 1 0 0 1
FUCA1, LOC126805661 0 0 1 0 0 1
FUT2 0 0 1 0 0 1
FUT6 0 0 1 0 0 1
FUZ 0 0 1 0 0 1
FXN 0 0 1 0 0 1
FXN, LOC130001862 0 0 1 0 0 1
FZD2 0 0 1 0 0 1
FZD4, PRSS23 0 0 1 0 0 1
G6PC3 0 1 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC129929052 0 0 1 0 0 1
GABRB2 0 0 1 0 0 1
GABRB3 0 0 1 0 0 1
GABRD 0 0 1 0 0 1
GABRG2 0 0 1 0 0 1
GAL 0 0 1 0 0 1
GALE 0 1 0 0 0 1
GAS1 0 0 1 0 0 1
GAS2L2, LOC130060735 0 0 1 0 0 1
GATC, LOC112163529 0 0 1 0 0 1
GBA1 0 0 1 0 0 1
GCGR 0 0 1 0 0 1
GCSH 0 0 1 0 0 1
GDF11 0 0 1 0 0 1
GDF2 0 0 1 0 0 1
GDF9 0 0 1 0 0 1
GDI1 0 0 1 0 0 1
GFER, LOC130058203 0 0 1 0 0 1
GFI1 0 0 0 1 0 1
GFPT1 0 1 0 0 0 1
GIPC1 0 0 1 0 0 1
GJA5 0 0 1 0 0 1
GLDN 0 0 1 0 0 1
GLI1 0 0 1 0 0 1
GLRA1 0 0 1 0 0 1
GLS 0 0 1 0 0 1
GNAI2 0 0 1 0 0 1
GNAL 0 0 1 0 0 1
GNAT1 0 0 1 0 0 1
GNAT2, LOC129388577 0 0 1 0 0 1
GNPAT 0 0 0 0 1 1
GNS 0 0 1 0 0 1
GON7 0 0 1 0 0 1
GORAB 0 1 0 0 0 1
GP1BA 1 0 0 0 0 1
GP6 1 0 0 0 0 1
GPAA1 0 1 0 0 0 1
GPC3 0 0 1 0 0 1
GPC4 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
GPIHBP1 0 0 1 0 0 1
GPR68 0 1 0 0 0 1
GPT2 0 1 0 0 0 1
GRHL3, STPG1 0 0 1 0 0 1
GRID2 0 0 1 0 0 1
GRIN1 0 0 1 0 0 1
GRIN2D, LOC130064856 0 0 1 0 0 1
GRIP1 0 0 1 0 0 1
GRK1 0 0 1 0 0 1
GTF2E2 0 0 1 0 0 1
GTF2H5 0 0 1 0 0 1
GTPBP3 0 1 0 0 0 1
GUCY1A1 0 1 0 0 0 1
GUCY2C, PLBD1 0 0 1 0 0 1
GUF1 0 0 1 0 0 1
GUSB, LOC126860055 0 0 1 0 0 1
GYG1 0 1 0 0 0 1
HADHB 0 1 0 0 0 1
HAFML, VEGFC 0 0 1 0 0 1
HARS1 0 0 1 0 0 1
HBA1, LOC106804613 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HBD, LOC106099063 0 0 1 0 0 1
HBD, LOC109951029 0 0 1 0 0 1
HBG1, LOC106099064 0 0 1 0 0 1
HCCS 0 0 0 0 1 1
HCCS-DT 1 0 0 0 0 1
HDAC8 0 0 0 1 0 1
HEATR5B 0 0 1 0 0 1
HELLS 0 1 0 0 0 1
HEPHL1 0 0 1 0 0 1
HERC2 0 1 0 0 0 1
HHATL 0 0 1 0 0 1
HKDC1, LOC126860950 0 0 1 0 0 1
HLA-B 0 0 1 0 0 1
HLA-DPB1 0 0 1 0 0 1
HMGB3 0 0 1 0 0 1
HMOX1 0 0 1 0 0 1
HNF1B, LOC126862549 0 0 1 0 0 1
HNF4A 0 0 1 0 0 1
HNRNPA1 0 0 1 0 0 1
HNRNPA2B1 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 0 0 1 0 1
HOXD10 0 0 1 0 0 1
HPCAL1 0 0 1 0 0 1
HPD 0 0 1 0 0 1
HPD, TIALD 0 0 1 0 0 1
HRAS, LRRC56 0 0 0 0 1 1
HS6ST2 0 0 0 0 1 1
HSD17B10 0 0 1 0 0 1
HSD3B7 0 0 1 0 0 1
HSF2BP 0 0 1 0 0 1
HSPB1 0 0 1 0 0 1
HSPB8 0 0 1 0 0 1
HSPD1 0 0 1 0 0 1
HSPG2, LDLRAD2 0 0 0 1 0 1
HTRA2 0 0 0 0 1 1
HYAL1 0 1 0 0 0 1
HYOU1 0 0 1 0 0 1
IARS1 0 1 0 0 0 1
ICAM1 0 0 1 0 0 1
ICAM4 0 0 1 0 0 1
IDH3A 0 0 1 0 0 1
IDUA 0 0 0 1 0 1
IFITM3 0 0 1 0 0 1
IFITM5, LOC130005046 0 0 1 0 0 1
IFNAR2, IFNAR2-IL10RB 0 1 0 0 0 1
IFNG 0 0 1 0 0 1
IFT122 0 1 0 0 0 1
IFT172 0 0 1 0 0 1
IFT43 0 0 1 0 0 1
IFT54 0 1 0 0 0 1
IFT74 1 0 0 0 0 1
IFT81 0 1 0 0 0 1
IGF1, LINC02456 0 0 1 0 0 1
IGF2R 0 0 1 0 0 1
IGFALS 0 0 1 0 0 1
IKZF1 0 1 0 0 0 1
IL10RA 0 0 1 0 0 1
IL11RA 0 0 1 0 0 1
IL12B 0 1 0 0 0 1
IL17RC 0 1 0 0 0 1
IL17RD, LOC129936924 0 0 1 0 0 1
IL1B 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL21R, LOC130058712 0 0 1 0 0 1
IL23R 0 0 1 0 0 1
IL2RG 0 0 1 0 0 1
IL6 0 0 1 0 0 1
INAVA 0 0 1 0 0 1
INPPL1 0 1 0 0 0 1
IRAK1BP1, PHIP 0 0 0 1 0 1
IRAK3, LOC130008235 0 0 1 0 0 1
IRF2BP2, LOC129932810 0 0 1 0 0 1
IRF2BPL, LOC107984638 0 0 0 1 0 1
IRF5 0 0 1 0 0 1
IRF7 0 0 1 0 0 1
IRF9 0 0 1 0 0 1
IRGM 0 0 1 0 0 1
ITGA6 0 0 1 0 0 1
ITGA7, LOC126861535 1 0 0 0 0 1
ITGA8 0 0 1 0 0 1
ITGB6 0 0 1 0 0 1
ITK 0 1 0 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 1
ITPA 0 0 1 0 0 1
ITPA, LOC130065322 0 1 0 0 0 1
ITPKC 0 0 1 0 0 1
ITPR1, LOC126806590 0 0 0 1 0 1
JAKMIP1 0 0 1 0 0 1
JMJD8, STUB1 0 0 1 0 0 1
JPH3 0 0 0 1 0 1
KANSL1 0 0 0 0 1 1
KAT5 0 0 1 0 0 1
KAT5, RNASEH2C 0 0 1 0 0 1
KCNA1 0 0 1 0 0 1
KCNA2 0 0 1 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 1
KCNH4 0 0 1 0 0 1
KCNIP1, KCNMB1 0 0 1 0 0 1
KCNJ10 0 0 1 0 0 1
KCNJ18 0 0 1 0 0 1
KCNJ2 0 0 1 0 0 1
KCNJ6 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
KCNK4, KCNK4-CATSPERZ 0 0 1 0 0 1
KCNN3, LOC126805875 0 0 1 0 0 1
KCNQ5, KCNQ5-DT 0 0 1 0 0 1
KCNV2 1 0 0 0 0 1
KCTD17 0 0 1 0 0 1
KDF1 0 0 0 1 0 1
KDM1A 0 0 0 1 0 1
KDM4B 0 1 0 0 0 1
KDM6A 0 0 1 0 0 1
KEL 0 0 1 0 0 1
KERA 0 1 0 0 0 1
KIAA0586 1 0 0 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 1
KIF22 0 0 1 0 0 1
KIF2A 0 0 1 0 0 1
KIF2A, LOC129993961 0 0 0 1 0 1
KIF4A 0 0 1 0 0 1
KIF5A 0 0 1 0 0 1
KIF7, LOC126862216 1 0 0 0 0 1
KIFBP 1 0 0 0 0 1
KISS1R 0 1 0 0 0 1
KIZ, LOC130065507 0 1 0 0 0 1
KLC1, XRCC3 0 0 1 0 0 1
KLF1 0 0 1 0 0 1
KLHDC8B 0 0 1 0 0 1
KLHL10 0 0 1 0 0 1
KMT2A, TTC36 0 0 0 1 0 1
KMT2D, LOC126861520 0 0 0 1 0 1
KREMEN1 0 0 1 0 0 1
KRT1 0 0 1 0 0 1
KRT12 0 0 1 0 0 1
KRT18, LOC106096416 0 0 1 0 0 1
KRT5 0 0 1 0 0 1
KRT6C 0 0 1 0 0 1
KRT75 0 0 1 0 0 1
KRT85 0 0 1 0 0 1
KYAT1-SPOUT1, SPOUT1 0 0 1 0 0 1
LAMA1, LOC126862685 0 1 0 0 0 1
LAMA2, LOC123864065 0 0 1 0 0 1
LAMA3, LOC126862707 0 0 1 0 0 1
LAMB1 0 1 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LARS2 1 0 0 0 0 1
LCAT 0 1 0 0 0 1
LCK 0 1 0 0 0 1
LEF1 0 0 1 0 0 1
LEMD3, LOC130008224 0 0 1 0 0 1
LEPR 0 1 0 0 0 1
LGI4 0 1 0 0 0 1
LGR4 0 0 1 0 0 1
LHFPL3 0 0 1 0 0 1
LHX3 0 0 1 0 0 1
LIAS 0 1 0 0 0 1
LIAS, LOC112939935 0 0 1 0 0 1
LIMS2 0 0 1 0 0 1
LINC00373 1 0 0 0 0 1
LINC01409 0 0 0 0 1 1
LINC01978, LINC01979 0 1 0 0 0 1
LIPA 1 0 0 0 0 1
LIPE, LOC101930071 0 0 1 0 0 1
LIPH 0 0 1 0 0 1
LITAF 0 0 1 0 0 1
LMBRD1 1 0 0 0 0 1
LMNB1 0 0 1 0 0 1
LMNB2 0 0 1 0 0 1
LMOD3 0 0 1 0 0 1
LNPK 0 0 1 0 0 1
LOC100130357, PHACTR1, TBC1D7-LOC100130357 0 0 0 1 0 1
LOC101927055, TTN 0 0 1 0 0 1
LOC105369937, MYBPC1 0 0 1 0 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC107075317, SIX5 0 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 0 1
LOC108660405, PPP2R2B 0 0 1 0 0 1
LOC109286563, TBX21 0 0 1 0 0 1
LOC110011216, PHOX2B 0 0 0 1 0 1
LOC110121502, MCS+9.7, RET 0 1 0 0 0 1
LOC110806262, SLC6A4 0 0 0 1 0 1
LOC111258525, NOS1 0 0 1 0 0 1
LOC112577486, PLOD1 0 0 1 0 0 1
LOC112806037, MERTK 0 0 1 0 0 1
LOC112840921, OTOF 0 0 1 0 0 1
LOC123956210, SLC26A4 0 1 0 0 0 1
LOC124629326, PDE3A 0 0 1 0 0 1
LOC125371447, LOC130062896, STK11 1 0 0 0 0 1
LOC126057105, TBL1Y 0 0 1 0 0 1
LOC126653391, RSPH1 1 0 0 0 0 1
LOC126653398, TSPEAR 0 1 0 0 0 1
LOC126805604, PER3 0 0 1 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126805688, YARS1 0 0 1 0 0 1
LOC126806063, LYST 0 0 1 0 0 1
LOC126806068, RYR2 0 0 1 0 0 1
LOC126806373, NEB 0 0 1 0 0 1
LOC126806424, TTN 0 0 1 0 0 1
LOC126806426, TTN 0 0 1 0 0 1
LOC126806430, TTN 0 0 1 0 0 1
LOC126806431, TTN 0 0 1 0 0 1
LOC126806490, UNC80 0 0 1 0 0 1
LOC126806529, PAX3 0 0 1 0 0 1
LOC126806608, WNT7A 0 0 1 0 0 1
LOC126806727, ROBO2 0 0 1 0 0 1
LOC126806798, ZNF148 0 0 0 1 0 1
LOC126807101, WDFY3 0 0 1 0 0 1
LOC126807124, MTTP 0 1 0 0 0 1
LOC126807392, MAP3K1 0 0 1 0 0 1
LOC126807443, VCAN 0 0 1 0 0 1
LOC126859646, VARS2 0 1 0 0 0 1
LOC126859861, PLG 0 0 1 0 0 1
LOC126860075, POR 0 0 0 0 1 1
LOC126860392, RP1 0 0 0 0 1 1
LOC126860741, TNC 0 0 0 1 0 1
LOC126860802, ZMYND11 0 0 0 1 0 1
LOC126861318, MMP13 1 0 0 0 0 1
LOC126861509, PRICKLE1 0 0 1 0 0 1
LOC126861563, MDM2 0 0 1 0 0 1
LOC126861615, PAH 0 1 0 0 0 1
LOC126861801, TBC1D4 0 0 1 0 0 1
LOC126861831, NALCN 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 1
LOC126862019, TDP1 0 0 1 0 0 1
LOC126862123, SLC12A1 0 0 1 0 0 1
LOC126862422, MLYCD 0 0 1 0 0 1
LOC126862483, TP53, WRAP53 0 1 0 0 0 1
LOC126862493, MYH8, MYHAS 0 0 0 1 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 0 1
LOC126862664, RNF213 0 0 1 0 0 1
LOC126862725, MAPRE2 0 0 1 0 0 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC127407129, RFX6 0 0 1 0 0 1
LOC127814297, POU4F3 0 0 1 0 0 1
LOC129389144, PLOD2 0 0 1 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC129930253, ZMPSTE24 0 0 1 0 0 1
LOC129931299, WARS2 1 0 0 0 0 1
LOC129931468, LORICRIN 0 0 1 0 0 1
LOC129933334, OTOF 0 0 1 0 0 1
LOC129934333, TMEM127 0 1 0 0 0 1
LOC129935183, TTN 0 0 1 0 0 1
LOC129935625, WNT10A 0 1 0 0 0 1
LOC129992304, QDPR 0 1 0 0 0 1
LOC129992625, SRP72 0 0 0 1 0 1
LOC129992876, SLC39A8 0 0 1 0 0 1
LOC129994569, MIR3936HG, SLC22A5 1 0 0 0 0 1
LOC129995144, THG1L 0 1 0 0 0 1
LOC129996727, SLC17A5 0 0 1 0 0 1
LOC129997916, PMS2 1 0 0 0 0 1
LOC129998426, ZPBP 0 0 1 0 0 1
LOC129999303, SMO 0 0 1 0 0 1
LOC130000896, RRM2B 1 0 0 0 0 1
LOC130001234, ZFAT 0 0 1 0 0 1
LOC130001411, RECQL4 0 0 1 0 0 1
LOC130002133, PTCH1 0 0 0 1 0 1
LOC130002705, SLC27A4 0 0 1 0 0 1
LOC130004408, TCTN3 0 1 0 0 0 1
LOC130008812, OAS1 0 0 1 0 0 1
LOC130009366, SACS 0 0 1 0 0 1
LOC130009662, TNFSF11 0 0 1 0 0 1
LOC130055387, NRL 0 0 1 0 0 1
LOC130055494, NFKBIA 0 0 1 0 0 1
LOC130056709, NIPA1 0 0 1 0 0 1
LOC130058210, TSC2 0 1 0 0 0 1
LOC130058735, TUFM 0 0 1 0 0 1
LOC130059156, TK2 0 1 0 0 0 1
LOC130059818, SPG7 0 0 1 0 0 1
LOC130060311, TTC19 0 0 1 0 0 1
LOC130060903, NAGLU 0 0 1 0 0 1
LOC130061271, MKS1 0 0 1 0 0 1
LOC130062061, TBCD 0 0 1 0 0 1
LOC130062197, TUBB6 0 0 0 1 0 1
LOC130063193, MAP2K2 0 0 1 0 0 1
LOC130064357, RYR1 0 0 1 0 0 1
LOC130064387, SARS2 0 0 1 0 0 1
LOC130066420, SOX18 0 0 1 0 0 1
LOC130067862, TYMP 0 0 0 1 0 1
LPA 0 0 0 1 0 1
LPAR6, RB1 0 1 0 0 0 1
LPO, MPO 1 0 0 0 0 1
LRIT3 0 0 1 0 0 1
LRMDA 0 0 1 0 0 1
LRRC51, LRTOMT 0 0 0 1 0 1
LRRK1 0 0 1 0 0 1
LRTOMT, TOMT 0 0 1 0 0 1
LTBP3 0 0 1 0 0 1
LURAP1L, TYRP1 0 0 1 0 0 1
MAB21L1, NBEA 0 0 1 0 0 1
MADD 0 1 0 0 0 1
MAFA 0 0 1 0 0 1
MAG 0 0 1 0 0 1
MALT1 0 0 1 0 0 1
MAMLD1 0 0 1 0 0 1
MAN1B1 0 0 0 1 0 1
MAN2C1, NEIL1 0 1 0 0 0 1
MAP2K1 0 0 1 0 0 1
MAP3K7 0 0 0 0 1 1
MAPK10 0 0 1 0 0 1
MAPKAPK3 0 0 1 0 0 1
MAPRE2 0 0 0 1 0 1
MARCHF6 0 0 1 0 0 1
MARK3 0 0 1 0 0 1
MARVELD2 1 0 0 0 0 1
MASP1 0 0 1 0 0 1
MATR3 0 0 1 0 0 1
MATR3, SNHG4 0 0 1 0 0 1
MBTPS1 0 0 1 0 0 1
MC1R, TUBB3 0 0 0 1 0 1
MC2R 0 1 0 0 0 1
MC3R 0 0 1 0 0 1
MCIDAS 0 0 1 0 0 1
MCM10 0 0 1 0 0 1
MCM7 0 0 1 0 0 1
MDH2 0 0 1 0 0 1
MDM4 0 0 1 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MEGF8 0 0 1 0 0 1
MEIS2 0 0 1 0 0 1
MEOX1 0 1 0 0 0 1
MESP2 0 1 0 0 0 1
METTL13 0 0 1 0 0 1
METTL5 0 0 1 0 0 1
MFAP5 0 0 0 1 0 1
MFF 0 0 1 0 0 1
MFN2 0 1 0 0 0 1
MIP 0 0 1 0 0 1
MIR3911, STXBP1 0 0 1 0 0 1
MIR6084, PINK1 1 0 0 0 0 1
MLLT10 0 0 1 0 0 1
MLPH 0 1 0 0 0 1
MMP1 0 0 1 0 0 1
MMP14 0 0 1 0 0 1
MMP2 0 1 0 0 0 1
MMP21 0 1 0 0 0 1
MMP3 0 0 1 0 0 1
MNS1, TEX9 0 1 0 0 0 1
MOCOS 0 1 0 0 0 1
MOG 0 0 1 0 0 1
MOV10L1 0 0 1 0 0 1
MPG 0 0 1 0 0 1
MR1 0 0 1 0 0 1
MRAP2 0 0 1 0 0 1
MRTFA 0 0 1 0 0 1
MSH5, MSH5-SAPCD1 0 0 1 0 0 1
MSX2 0 0 1 0 0 1
MTHFD1, ZBTB25 0 1 0 0 0 1
MTHFS, ST20-MTHFS 0 0 1 0 0 1
MTMR14 0 0 1 0 0 1
MTPAP 0 0 1 0 0 1
MTRR 1 0 0 0 0 1
MUC6 0 0 1 0 0 1
MYCN 0 0 0 1 0 1
MYF6 0 0 1 0 0 1
MYH15 0 1 0 0 0 1
MYL11 0 0 1 0 0 1
MYL2 0 0 1 0 0 1
MYL3 0 0 1 0 0 1
MYO1E 0 0 1 0 0 1
MYT1L 0 0 1 0 0 1
NAA10 0 0 1 0 0 1
NADSYN1 0 1 0 0 0 1
NAGS 0 1 0 0 0 1
NARS2 0 1 0 0 0 1
NAXE 0 0 1 0 0 1
NCF2 0 0 0 0 1 1
NDST1 0 0 1 0 0 1
NDUFA11 0 0 1 0 0 1
NDUFAF1 0 1 0 0 0 1
NDUFAF3 0 1 0 0 0 1
NDUFS2 0 0 1 0 0 1
NDUFS3 0 0 0 1 0 1
NDUFS4 1 0 0 0 0 1
NDUFS7 0 0 0 1 0 1
NEFM 0 0 1 0 0 1
NEK9 0 0 1 0 0 1
NFIB 0 0 1 0 0 1
NFKB2 0 0 1 0 0 1
NFKBIA 0 0 1 0 0 1
NFKBIL1 0 0 1 0 0 1
NIN 0 0 1 0 0 1
NIPA1 0 0 1 0 0 1
NIPAL4 1 0 0 0 0 1
NKX2-5 0 0 1 0 0 1
NLGN1 0 0 1 0 0 1
NLGN3 0 0 1 0 0 1
NLGN4X 0 0 1 0 0 1
NLRP5 0 1 0 0 0 1
NME1, NME1-NME2 0 0 1 0 0 1
NME8 0 0 1 0 0 1
NOL3 0 0 1 0 0 1
NOP56 0 0 1 0 0 1
NOS1 0 0 1 0 0 1
NOVA2 0 0 0 1 0 1
NPC1L1 0 0 1 0 0 1
NPC2 0 0 1 0 0 1
NQO1 0 0 1 0 0 1
NR4A3 0 0 1 0 0 1
NRCAM 0 0 1 0 0 1
NRP2 0 0 1 0 0 1
NRXN1 0 1 0 0 0 1
NRXN2 0 0 1 0 0 1
NSDHL 0 0 1 0 0 1
NSMCE2 1 0 0 0 0 1
NT5C2 0 0 1 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
NUDT15 0 0 1 0 0 1
NUP107 0 0 1 0 0 1
NUP160 0 0 1 0 0 1
NUP88 0 0 1 0 0 1
NXN 0 0 1 0 0 1
OCRL 0 0 1 0 0 1
ODAD2 0 1 0 0 0 1
ODC1 0 0 1 0 0 1
OPN1SW 0 0 1 0 0 1
OR10Z1, SPTA1 0 0 1 0 0 1
OR4F15 0 0 1 0 0 1
OSBPL2 0 0 1 0 0 1
OSTM1 0 0 1 0 0 1
OXCT1 0 0 1 0 0 1
P2RX2 0 0 0 0 1 1
P3H2 0 1 0 0 0 1
P4HB 0 0 1 0 0 1
P4HTM 0 0 1 0 0 1
PAX3 0 0 1 0 0 1
PAX6 0 0 1 0 0 1
PBX1 0 0 1 0 0 1
PCBD1 0 1 0 0 0 1
PCID2, PROZ 0 0 1 0 0 1
PCK1 0 0 1 0 0 1
PCYT1A 0 0 1 0 0 1
PDE4DIP 0 0 1 0 0 1
PDE6H 0 0 1 0 0 1
PDGFB 0 0 0 1 0 1
PDGFRL 0 0 1 0 0 1
PDX1 0 0 1 0 0 1
PDXK 0 0 1 0 0 1
PDZD7 0 1 0 0 0 1
PDZD9, UQCRC2 0 1 0 0 0 1
PEG3, ZIM2 0 0 1 0 0 1
PEPD 0 1 0 0 0 1
PEX10 1 0 0 0 0 1
PEX13 0 1 0 0 0 1
PEX19 0 0 1 0 0 1
PEX26 0 0 1 0 0 1
PGAP1 0 1 0 0 0 1
PGRMC1 0 0 1 0 0 1
PHEX, PTCHD1 0 0 1 0 0 1
PHF21A 0 0 0 1 0 1
PHIP 0 0 1 0 0 1
PHKB 0 1 0 0 0 1
PHYKPL 0 0 1 0 0 1
PI4KA 0 1 0 0 0 1
PIDD1 0 0 1 0 0 1
PIGL 0 0 1 0 0 1
PIGO 0 1 0 0 0 1
PIK3C2G, PLCZ1 0 0 1 0 0 1
PIK3CG 0 1 0 0 0 1
PIK3R1 0 0 1 0 0 1
PIK3R2 0 0 0 1 0 1
PIK3R5 0 0 1 0 0 1
PIK3R5, PIK3R5-DT 0 0 1 0 0 1
PIP4K2B 0 1 0 0 0 1
PLAA 0 0 1 0 0 1
PLCG1, TOP1 0 0 1 0 0 1
PLEKHM1 0 0 1 0 0 1
PLS1 0 0 1 0 0 1
PMFBP1 0 1 0 0 0 1
PMP22 0 0 1 0 0 1
PMPCB 0 1 0 0 0 1
PNLDC1 0 0 1 0 0 1
PNPLA2 0 1 0 0 0 1
PNPO 0 0 1 0 0 1
PODXL 0 0 1 0 0 1
POF1B 0 0 1 0 0 1
POGLUT1 0 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
POLR3B 0 0 1 0 0 1
POMC 0 0 1 0 0 1
POMGNT2 0 1 0 0 0 1
POMK 0 0 1 0 0 1
PON1 0 0 1 0 0 1
POPDC1 0 0 1 0 0 1
PORCN 0 0 0 0 1 1
POU1F1 0 0 1 0 0 1
POU3F3 0 0 1 0 0 1
POU3F4 0 0 0 1 0 1
PPA2 0 1 0 0 0 1
PPM1K 0 0 1 0 0 1
PPOX 0 0 1 0 0 1
PPP1CB 0 0 1 0 0 1
PPP1R12A 0 0 1 0 0 1
PPP1R21 0 1 0 0 0 1
PPP2R5D 0 0 1 0 0 1
PRDM12 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1
PRKAG3 0 0 1 0 0 1
PRKCD 0 0 1 0 0 1
PRKRA 0 0 1 0 0 1
PROK2 0 0 1 0 0 1
PRORP, PRORP-PSMA6 0 0 1 0 0 1
PRPF3 0 0 1 0 0 1
PRPF4 0 0 1 0 0 1
PRPF8 0 0 1 0 0 1
PRRX1 0 0 1 0 0 1
PRSS12 0 1 0 0 0 1
PSMB10 0 0 1 0 0 1
PSMB4 0 0 1 0 0 1
PSMB8 0 1 0 0 0 1
PSMC3IP 0 1 0 0 0 1
PTGDR 0 0 1 0 0 1
PTH 0 0 1 0 0 1
PTPRH 0 0 1 0 0 1
PTPRJ 0 0 1 0 0 1
PTRH2 0 0 1 0 0 1
PTS 0 1 0 0 0 1
QRSL1 0 1 0 0 0 1
RAB11A 0 0 1 0 0 1
RAB11B 0 0 1 0 0 1
RAB14 0 0 1 0 0 1
RAB28 0 0 1 0 0 1
RAB33B 1 0 0 0 0 1
RAC2 0 0 1 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 1 0 0 0 1
RAD51 0 0 1 0 0 1
RAD54L 0 0 1 0 0 1
RALGAPA1 0 1 0 0 0 1
RARS1 0 1 0 0 0 1
RASA1 0 0 1 0 0 1
RAX2 0 0 1 0 0 1
RB1, RB1-DT 0 1 0 0 0 1
RBCK1 0 0 1 0 0 1
RBM28 0 0 1 0 0 1
RBM8A 0 1 0 0 0 1
RD3 0 0 1 0 0 1
RELN, SLC26A5 0 0 1 0 0 1
RFT1 0 0 1 0 0 1
RFX6 0 1 0 0 0 1
RGR 0 0 1 0 0 1
RGS9 0 0 1 0 0 1
RHD, RSRP1 0 0 1 0 0 1
RIPOR1 0 0 1 0 0 1
RIPOR2 0 0 1 0 0 1
RIT1 0 0 0 1 0 1
RLIM 0 0 0 1 0 1
RMND1 0 1 0 0 0 1
RMP64 0 0 1 0 0 1
RNASEH2A 1 0 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RNF157 1 0 0 0 0 1
RNF168 0 1 0 0 0 1
RNF170 0 0 1 0 0 1
RNF216 0 1 0 0 0 1
RNF220 0 0 1 0 0 1
ROBO3 0 0 1 0 0 1
RORA 0 0 1 0 0 1
RP9 0 0 1 0 0 1
RPL18 0 0 1 0 0 1
RPL7A 0 0 1 0 0 1
RPS29 0 0 1 0 0 1
RPS6KA5 0 0 1 0 0 1
RRAS 0 0 1 0 0 1
RSPH3 0 1 0 0 0 1
RSPH9 0 0 1 0 0 1
RSRP1 0 0 1 0 0 1
RTN2 0 0 1 0 0 1
RTN4 0 0 1 0 0 1
RUSF1, SLC5A2 0 0 1 0 0 1
RUVBL1, SEC61A1 0 0 1 0 0 1
SAA1 0 0 0 0 1 1
SALL2 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 1
SARS2 0 0 1 0 0 1
SCAPER 0 0 1 0 0 1
SCARB1 0 0 1 0 0 1
SCARF2 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCN2A 0 0 1 0 0 1
SCN9A 0 0 1 0 0 1
SCP2 0 0 1 0 0 1
SCYL2 0 0 1 0 0 1
SDR42E1 0 0 1 0 0 1
SEC31A 0 0 1 0 0 1
SECISBP2 0 0 1 0 0 1
SELENBP1 0 0 1 0 0 1
SELENOI 0 0 1 0 0 1
SERPINB7 1 0 0 0 0 1
SERPING1 0 0 1 0 0 1
SFTPA2 0 0 1 0 0 1
SGCE 0 0 1 0 0 1
SGPL1 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SH2B1 0 0 1 0 0 1
SH2B3 0 0 1 0 0 1
SH2D1A 0 0 1 0 0 1
SHH 0 0 1 0 0 1
SHMT2 0 0 1 0 0 1
SHOC1 0 1 0 0 0 1
SIK3 0 0 1 0 0 1
SIPA1L3 0 0 1 0 0 1
SIX1 0 0 1 0 0 1
SKI 0 0 1 0 0 1
SLC10A7 0 0 1 0 0 1
SLC11A2 0 0 1 0 0 1
SLC16A1 0 0 1 0 0 1
SLC17A3 0 0 1 0 0 1
SLC1A2 0 0 0 0 1 1
SLC1A3 0 0 1 0 0 1
SLC20A2 0 0 0 0 1 1
SLC22A12 0 1 0 0 0 1
SLC24A1 0 1 0 0 0 1
SLC25A10 0 1 0 0 0 1
SLC25A24 0 0 1 0 0 1
SLC25A3 0 0 1 0 0 1
SLC25A4 0 0 1 0 0 1
SLC25A46 0 0 1 0 0 1
SLC26A3 0 0 1 0 0 1
SLC26A5 0 0 1 0 0 1
SLC29A3 0 1 0 0 0 1
SLC2A1 0 0 1 0 0 1
SLC33A1 0 0 1 0 0 1
SLC35C1 0 0 0 1 0 1
SLC39A13 0 1 0 0 0 1
SLC39A14 0 0 1 0 0 1
SLC46A1 0 1 0 0 0 1
SLC6A14 0 0 1 0 0 1
SLC6A17 0 0 1 0 0 1
SLC6A18 0 0 1 0 0 1
SLC6A9 0 1 0 0 0 1
SLC7A14 0 0 1 0 0 1
SLC7A3 0 0 1 0 0 1
SLC9A3 0 0 1 0 0 1
SLC9A7 0 0 1 0 0 1
SLC9A9 0 0 1 0 0 1
SMAD7 0 0 1 0 0 1
SMARCA2 0 0 0 1 0 1
SMARCAD1 0 0 1 0 0 1
SMARCAD1-DT 0 1 0 0 0 1
SMARCAL1 0 0 1 0 0 1
SMC3 0 0 1 0 0 1
SMG8 0 0 1 0 0 1
SMN2 0 0 1 0 0 1
SMO 0 0 1 0 0 1
SMPD4 0 1 0 0 0 1
SNCB 0 0 1 0 0 1
SNHG14, SNRPN, SNURF 0 0 1 0 0 1
SNRPE 0 0 1 0 0 1
SNRPN, SNURF 0 0 1 0 0 1
SNTA1 0 0 1 0 0 1
SOD2 0 0 1 0 0 1
SOD3 0 0 0 0 1 1
SOX17 0 0 1 0 0 1
SOX2, SOX2-OT 0 0 1 0 0 1
SOX6 0 0 0 1 0 1
SP110, SP140 0 0 1 0 0 1
SPAG17 0 0 1 0 0 1
SPART 0 0 1 0 0 1
SPEF2 0 1 0 0 0 1
SPG21 0 1 0 0 0 1
SPIDR 0 1 0 0 0 1
SPOP 0 0 1 0 0 1
SSU72 0 0 1 0 0 1
ST3GAL5 0 0 1 0 0 1
STAG3 0 1 0 0 0 1
STING1 0 0 1 0 0 1
STUB1 0 0 1 0 0 1
SUCLA2 0 1 0 0 0 1
SUCO 0 0 1 0 0 1
SUMO4, TAB2 0 0 0 0 1 1
SYK 0 0 1 0 0 1
SYN2 0 0 1 0 0 1
SYNE4 0 1 0 0 0 1
SYNJ1 0 0 1 0 0 1
SYP 0 0 0 1 0 1
SYT1 0 0 1 0 0 1
TACR3 0 0 1 0 0 1
TAF13 0 0 1 0 0 1
TAF6 0 1 0 0 0 1
TALDO1 0 1 0 0 0 1
TARS1 0 0 1 0 0 1
TAS2R16 0 0 1 0 0 1
TAT 0 0 1 0 0 1
TBCK 0 1 0 0 0 1
TBR1 0 0 1 0 0 1
TBX19 1 0 0 0 0 1
TCF12 0 0 1 0 0 1
TCHH 0 0 1 0 0 1
TDP1 0 0 1 0 0 1
TDRD7 0 0 1 0 0 1
TECRL 0 1 0 0 0 1
TELO2 1 0 0 0 0 1
TENM3 0 0 1 0 0 1
TEX14 0 1 0 0 0 1
TFAP2B 0 0 1 0 0 1
TGFB2 0 0 1 0 0 1
THBS2 0 0 1 0 0 1
THBS3 0 0 1 0 0 1
THRB 0 0 1 0 0 1
THSD4 0 0 1 0 0 1
THSD7B 0 0 1 0 0 1
TIA1 0 0 1 0 0 1
TIMM22 0 0 0 1 0 1
TIMM44 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TJP2 0 0 0 1 0 1
TKFC 0 0 1 0 0 1
TKT 0 0 1 0 0 1
TLR7 0 0 1 0 0 1
TMEM120B 0 0 1 0 0 1
TMEM126B 0 1 0 0 0 1
TMEM240 0 0 1 0 0 1
TMEM244 0 0 1 0 0 1
TMEM260 0 1 0 0 0 1
TMEM38B 0 0 1 0 0 1
TMEM63A 0 0 0 1 0 1
TMEM70 0 0 1 0 0 1
TMEM94 0 1 0 0 0 1
TMIE 0 1 0 0 0 1
TMTC3 0 1 0 0 0 1
TMX2, TMX2-CTNND1 0 0 1 0 0 1
TNF 0 0 1 0 0 1
TNK2 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNT1 0 0 1 0 0 1
TNS1 0 0 1 0 0 1
TOP2A 0 0 1 0 0 1
TOP3A 0 0 1 0 0 1
TOPBP1 0 0 1 0 0 1
TP53, WRAP53 1 0 0 0 0 1
TP53RK 0 0 1 0 0 1
TP73 0 0 1 0 0 1
TPH2 0 0 1 0 0 1
TPI1 0 0 1 0 0 1
TPK1 1 0 0 0 0 1
TPM2 0 0 1 0 0 1
TPM3 0 0 1 0 0 1
TPRKB 0 0 1 0 0 1
TRAF3 0 0 1 0 0 1
TRAPPC11 0 0 1 0 0 1
TRAPPC12 0 0 1 0 0 1
TREM2 0 0 1 0 0 1
TRIM44 0 0 1 0 0 1
TRMT10C 0 1 0 0 0 1
TRPC3 0 0 1 0 0 1
TSEN2 0 0 1 0 0 1
TSPAN12 0 0 1 0 0 1
TTC29 0 0 1 0 0 1
TTR 1 0 0 0 0 1
TUB 0 1 0 0 0 1
TUBG1 0 0 1 0 0 1
TULP1 0 0 1 0 0 1
TWIST2 0 0 1 0 0 1
TWNK 0 0 1 0 0 1
TXNL4A 0 0 1 0 0 1
TYK2 0 1 0 0 0 1
U2AF2 0 0 1 0 0 1
UBQLN2 0 0 1 0 0 1
UBR4 0 0 1 0 0 1
UCHL1 0 1 0 0 0 1
UCP2 0 0 1 0 0 1
UFSP2 0 0 1 0 0 1
UGT2B17 0 0 1 0 0 1
UNC45A 0 0 1 0 0 1
UNC93B1 0 0 1 0 0 1
USF3 0 0 1 0 0 1
USP27X 0 0 1 0 0 1
USP43 0 0 1 0 0 1
USP50, USP8 0 0 1 0 0 1
UTRN 0 0 1 0 0 1
VANGL2 0 0 1 0 0 1
VCAM1 0 0 1 0 0 1
VEGFC 0 0 1 0 0 1
VIPAS39 0 1 0 0 0 1
VLDLR 0 0 1 0 0 1
VMA21 0 0 1 0 0 1
VNN1 0 0 1 0 0 1
VPS13D 0 0 1 0 0 1
VPS37A 0 0 1 0 0 1
VPS45 0 0 1 0 0 1
VRK1 0 1 0 0 0 1
VWA8 0 0 1 0 0 1
VWDE 0 1 0 0 0 1
WARS2 1 0 0 0 0 1
WAS 0 0 1 0 0 1
WBP11 0 0 1 0 0 1
WDR36 0 0 1 0 0 1
WDR45 0 0 1 0 0 1
WDR62 0 1 0 0 0 1
WEE2 0 1 0 0 0 1
WIPI2 0 0 1 0 0 1
WNT5A 0 0 0 1 0 1
WT1 0 0 1 0 0 1
WWC1 0 0 1 0 0 1
WWOX 0 0 0 0 1 1
XPR1 0 0 1 0 0 1
XRCC2 0 0 1 0 0 1
XRCC3 0 0 1 0 0 1
XYLT1 0 0 0 0 1 1
YAP1 0 0 1 0 0 1
YY1 0 0 1 0 0 1
ZAP70 0 0 1 0 0 1
ZBTB18 0 0 1 0 0 1
ZC3H14 0 0 1 0 0 1
ZEB1 0 0 1 0 0 1
ZFAT 0 0 1 0 0 1
ZFHX4 0 0 1 0 0 1
ZIC1 0 0 1 0 0 1
ZIC2 0 0 1 0 0 1
ZKSCAN3 0 0 1 0 0 1
ZMYND10 0 1 0 0 0 1
ZNF148 0 0 1 0 0 1
ZNF341 0 0 1 0 0 1
ZNF526 0 0 1 0 0 1
ZNF711 0 0 0 1 0 1
ZNF766 1 0 0 0 0 1
ZNHIT3 0 1 0 0 0 1
ZP3 0 0 1 0 0 1
ZPBP 0 0 1 0 0 1
ZSWIM7 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 3360
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 297 73 2981 511 1 3863
Malignant tumor of breast 296 36 784 486 178 1780
Polycystic kidney disease, adult type 137 17 367 177 17 715
Polycystic kidney disease 166 23 167 193 143 692
Carcinoma of colon 255 32 174 133 73 667
Familial cancer of breast 55 23 250 131 5 464
not specified 0 0 37 52 296 385
Lynch syndrome 83 9 177 89 10 367
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2 38 5 109 48 7 207
BRCA2-related cancer predisposition 51 7 79 53 3 193
Familial colorectal cancer type X 22 4 91 54 5 176
Hereditary breast ovarian cancer syndrome 53 15 64 38 1 171
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi anemia, complementation group S 52 12 44 41 6 155
Endometrial carcinoma 46 7 47 33 21 154
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 35 8 68 30 1 142
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 84 44 5 133
Familial ovarian cancer 14 4 76 35 4 133
ATM-related cancer predisposition 20 9 73 28 2 132
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 4 117 3 3 127
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 17 6 79 25 0 127
Polycystic kidney disease 4 12 14 56 22 14 118
Muir-Torré syndrome 5 0 68 43 1 117
Fanconi anemia, complementation group S 29 5 45 32 2 113
Classic or attenuated familial adenomatous polyposis 18 6 60 19 4 107
Breast-ovarian cancer, familial, susceptibility to, 2 37 0 37 21 11 106
Hereditary nonpolyposis colon cancer 6 4 46 34 13 103
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 1 0 56 36 8 101
Polymerase proofreading-related adenomatous polyposis 0 0 54 36 7 97
Breast-ovarian cancer, familial, susceptibility to, 5 14 3 55 19 0 91
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2 0 54 21 11 88
Polycystic kidney disease 2 39 3 31 12 1 86
Colorectal cancer, susceptibility to, 1 0 0 51 23 10 84
Familial adenomatous polyposis 4 3 3 32 37 7 82
Familial pancreatic carcinoma 16 0 41 24 1 82
Familial cancer of breast; Ovarian cancer 6 0 33 41 1 81
CHEK2-related cancer predisposition 9 2 47 10 1 69
Mismatch repair cancer syndrome 3 17 1 30 21 0 69
Peutz-Jeghers syndrome 2 0 31 36 0 69
Autosomal dominant polycystic kidney disease 32 4 10 8 14 68
Familial adenomatous polyposis 2 19 3 25 18 1 66
CDH1-related diffuse gastric and lobular breast cancer syndrome 4 1 34 22 0 61
BARD1-related cancer predisposition 7 1 39 12 1 60
Breast-ovarian cancer, familial, susceptibility to, 1 29 2 19 7 3 60
Lynch syndrome 4; Mismatch repair cancer syndrome 4 8 2 35 14 1 60
Endometrial carcinoma; Familial adenomatous polyposis 4 2 0 37 9 11 59
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 9 0 12 17 21 59
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 9 2 31 14 2 58
Familial cancer of breast; Ataxia-telangiectasia syndrome 13 9 10 23 1 56
Familial prostate cancer 7 0 33 16 0 56
Neurofibromatosis, type 1 1 40 1 11 3 56
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 7 0 31 16 1 55
Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 25 3 11 12 0 51
Familial adenomatous polyposis 1 16 0 16 15 3 50
Brittle cornea syndrome 1 0 1 40 6 0 47
Ichthyosis vulgaris 3 18 24 2 0 47
Mitochondrial disease 2 7 34 4 0 47
Familial cancer of breast; Li-Fraumeni syndrome 1 6 0 17 22 0 45
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 1 1 9 18 15 44
Breast-ovarian cancer, familial, susceptibility to, 3 7 3 23 8 1 42
Mismatch repair cancer syndrome 4 15 1 14 11 1 42
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 0 0 18 20 3 41
Desmoid disease, hereditary; Familial adenomatous polyposis 1 6 0 17 16 1 40
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 0 0 38 0 0 38
Familial adenomatous polyposis 2; Gastric cancer 3 2 29 4 0 38
Hereditary cancer-predisposing syndrome 6 3 17 10 2 38
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 3 3 30 2 0 38
Familial adenomatous polyposis 3 5 0 18 12 1 36
Fanconi anemia complementation group C 3 3 20 10 0 36
Coffin-Siris syndrome 0 4 20 6 4 34
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 22 3 4 5 0 34
Lynch syndrome 4 18 1 8 7 0 34
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 2 2 6 10 14 34
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis 4 4 16 9 1 34
Prostate cancer, hereditary, 9 1 0 23 9 1 34
Hyperplastic polyposis syndrome 0 0 17 9 7 33
Nonsyndromic genetic hearing loss 1 1 25 4 2 33
Familial multiple polyposis syndrome 29 0 0 0 3 32
POLE-related polyposis and colorectal cancer syndrome 0 1 3 22 6 32
Cystic fibrosis 7 3 20 1 0 31
Retinoblastoma 1 25 2 2 1 31
Tuberous sclerosis syndrome 3 6 4 8 10 31
Complex neurodevelopmental disorder 0 1 16 12 1 30
Cohen syndrome 0 4 23 2 0 29
Fraser syndrome 1 1 1 22 4 1 29
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 1 2 25 0 0 28
Endometrial carcinoma; Lynch syndrome 5 12 2 7 7 0 28
Mismatch repair cancer syndrome 1 4 4 7 10 3 28
Pulmonary arterial hypertension 0 0 24 4 0 28
Sessile serrated polyposis cancer syndrome 0 0 15 10 3 28
Hereditary diffuse gastric adenocarcinoma 2 2 8 15 0 27
Leigh syndrome 4 4 14 1 4 27
Melanoma-pancreatic cancer syndrome 7 9 9 1 1 27
Usher syndrome type 2 1 1 23 1 0 26
Ciliopathy 1 4 18 2 0 25
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 0 0 24 1 0 25
Usher syndrome type 2A; Retinitis pigmentosa 39 5 2 17 1 0 25
Breast-ovarian cancer, familial, susceptibility to, 4 5 1 12 6 0 24
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 6 1 6 4 7 24
Hyperaldosteronism, familial, type IV 0 0 23 1 0 24
Autosomal recessive nonsyndromic hearing loss 3 1 4 16 2 0 23
Congenital heart disease 0 2 19 1 1 23
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 0 1 19 2 1 23
Desmoid disease, hereditary 1 0 9 13 0 23
Donnai-Barrow syndrome 0 0 17 6 0 23
Glycogen storage disease, type II 7 0 13 1 2 23
Occult macular dystrophy; Retinitis pigmentosa 88 0 5 18 0 0 23
PTEN hamartoma tumor syndrome 1 17 0 4 1 23
Asphyxiating thoracic dystrophy 3 0 4 18 0 0 22
Li-Fraumeni syndrome 1 3 7 10 1 22
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2 0 2 11 7 22
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 0 4 4 6 8 22
Phenylketonuria 15 2 4 0 1 22
Renal tubular dysgenesis of genetic origin 0 3 15 2 2 22
Tyrosinase-positive oculocutaneous albinism 0 2 17 3 0 22
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 0 0 22 0 0 22
Autosomal recessive nonsyndromic hearing loss 28 1 4 9 5 2 21
Li-Fraumeni syndrome 1 2 5 7 7 0 21
Lynch syndrome 5 2 0 11 8 0 21
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2 3 15 0 1 21
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11 0 1 9 5 6 21
Autosomal recessive nonsyndromic hearing loss 9 2 5 13 0 0 20
Charlevoix-Saguenay spastic ataxia 0 1 18 1 0 20
Collagen 6-related myopathy 0 1 18 1 0 20
Cowden syndrome 1 1 2 7 8 2 20
Dystonia 27 0 0 20 0 0 20
FAT1-related disorder 0 0 15 4 1 20
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 4 0 7 6 3 20
Multiple endocrine neoplasia, type 1 4 5 4 3 4 20
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 1 1 4 7 7 20
Platelet-type bleeding disorder 10 1 14 5 0 0 20
Recessive dystrophic epidermolysis bullosa 1 0 15 3 1 20
Syndromic intellectual disability 0 0 16 4 0 20
ABCA4-related retinopathy 1 0 17 0 1 19
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 3 4 7 5 0 19
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 0 2 10 2 5 19
Hypercholesterolemia, autosomal dominant, type B 1 1 16 0 1 19
POLQ-related disorder 0 0 13 5 1 19
Retinitis pigmentosa 25 2 0 15 2 0 19
Alstrom syndrome 1 0 17 0 0 18
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 2 15 1 0 18
Ellis-van Creveld syndrome; Curry-Hall syndrome 0 1 14 3 0 18
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 4; Mitochondrial complex 2 deficiency, nuclear type 4 3 1 8 5 1 18
Hereditary breast ovarian cancer syndrome; Familial pancreatic carcinoma 3 0 8 6 1 18
Hereditary leiomyomatosis and renal cell cancer 3 0 0 5 10 18
PALB2-related cancer predisposition 8 2 0 8 0 18
Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 0 0 11 7 0 18
RECON progeroid syndrome 0 0 11 3 4 18
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12 1 0 3 8 6 18
Bardet-Biedl syndrome 8 8 1 0 0 17
CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 7 3 2 5 0 17
DICER1-related tumor predisposition 3 1 3 3 7 17
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 3 1 13 0 0 17
Niemann-Pick disease, type C1 2 4 11 0 0 17
Oligodontia-cancer predisposition syndrome 0 0 2 6 9 17
PTPN13-related disorder 0 0 13 4 0 17
Pancreatic cancer, susceptibility to, 2 6 0 5 6 0 17
Autosomal recessive limb-girdle muscular dystrophy 3 0 13 0 0 16
Autosomal recessive polycystic kidney disease 5 1 2 2 6 16
BAP1-related tumor predisposition syndrome 0 2 4 7 3 16
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 1 3 12 0 0 16
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 3 4 6 2 1 16
Cystinuria 2 3 11 0 0 16
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 5 6 2 2 1 16
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 2 14 0 0 16
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 4 1 0 4 7 16
Hereditary pheochromocytoma and paraganglioma 2 3 5 2 4 16
Pancreatic cancer, susceptibility to, 3 3 2 9 2 0 16
Usher syndrome type 1 0 0 15 0 1 16
VPS13A-related neurodegenerative disease 0 2 12 2 0 16
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 0 15 0 0 15
Cone-rod dystrophy 13; Leber congenital amaurosis 6 2 4 7 0 2 15
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 1 14 0 0 15
Glycogen storage disease, type V 2 4 8 1 0 15
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 9 2 4 15
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 0 1 13 1 0 15
Microcephaly, normal intelligence and immunodeficiency 1 1 10 3 0 15
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 3 6 6 0 0 15
TTN-related myopathy 0 0 14 0 1 15
Thyroid dyshormonogenesis 6; Familial thyroid dyshormonogenesis 7 4 4 0 0 15
Alport syndrome 0 0 11 2 1 14
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2 0 12 0 0 14
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 6 2 6 0 0 14
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 1 0 10 2 1 14
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 14 0 0 14
Glycogen storage disorder due to hepatic glycogen synthase deficiency 3 9 2 0 0 14
Isolated cryptophthalmia; Fraser syndrome 2 0 1 11 2 0 14
Retinitis pigmentosa 1 0 0 11 2 1 14
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 5 2 3 0 3 13
Autosomal dominant Parkinson disease 8 2 0 9 2 0 13
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 7 1 4 0 1 13
Autosomal recessive nonsyndromic hearing loss 30 0 2 11 0 0 13
Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 1; Mitochondrial complex 2 deficiency, nuclear type 3 2 0 4 3 4 13
Chédiak-Higashi syndrome 0 0 13 0 0 13
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 8 4 1 13
Hereditary pancreatitis 0 1 11 1 0 13
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 2 10 1 0 13
Lissencephaly 9 with complex brainstem malformation 0 0 6 6 1 13
Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome 10 2 1 0 0 13
Polyglandular autoimmune syndrome, type 1 3 0 8 2 0 13
Renal carnitine transport defect 5 2 6 0 0 13
Stickler syndrome 0 1 11 0 1 13
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 9 3 0 12
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 1 2 9 0 0 12
Autosomal recessive nonsyndromic hearing loss 77 1 0 11 0 0 12
CNGB1-related retinopathy 1 1 9 1 0 12
Colorectal cancer 3 0 8 0 1 12
Cowden syndrome 0 0 6 4 2 12
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 0 9 1 2 12
Hereditary spastic paraplegia 7 5 0 7 0 0 12
Hypertrophic cardiomyopathy 1 0 11 0 0 12
Knobloch syndrome 1 1 3 5 1 2 12
Kufor-Rakeb syndrome 0 0 10 2 0 12
Melanoma, uveal, susceptibility to, 2; BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 0 0 1 6 5 12
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 9 3 0 12
Moyamoya disease 2 0 0 12 0 0 12
Multiple endocrine neoplasia type 2A 0 7 1 2 2 12
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 9 3 0 12
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 0 0 11 1 0 12
Alzheimer disease 2 1 1 8 0 1 11
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 11 0 0 11
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8 0 2 0 1 11
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 10 1 0 11
Brugada syndrome 0 0 11 0 0 11
CEP290-related ciliopathy 1 0 10 0 0 11
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2 0 9 0 0 11
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 0 0 8 2 1 11
Ciliary dyskinesia, primary, 40 1 6 4 0 0 11
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 3 6 2 11
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 3 5 3 0 0 11
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Premature ovarian failure 11; Lung cancer 0 1 10 0 0 11
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F 0 1 10 0 0 11
Developmental and epileptic encephalopathy 0 1 8 1 1 11
Ehlers-Danlos syndrome, classic type 0 0 11 0 0 11
Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 0 0 9 0 2 11
Epilepsy 0 0 11 0 0 11
Hereditary insensitivity to pain with anhidrosis 0 0 9 0 2 11
Immunodeficiency, common variable, 2 3 5 3 0 0 11
Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1; Congenital factor V deficiency 0 0 11 0 0 11
Junctional epidermolysis bullosa, non-Herlitz type 0 0 10 1 0 11
KBG syndrome 0 0 8 3 0 11
Kleefstra syndrome 2 0 0 4 5 2 11
Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 0 0 4 5 2 11
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2 0 5 4 0 11
Nephronophthisis 4; Senior-Loken syndrome 4 0 1 9 1 0 11
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 8 2 1 11
Niemann-Pick disease, type B; Niemann-Pick disease, type A 1 0 10 0 0 11
Noonan syndrome 0 3 4 2 2 11
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 6 3 2 11
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 4 3 4 0 0 11
Pancreatic cancer, susceptibility to, 1 0 0 8 3 0 11
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1 0 2 7 2 0 11
Pseudohypoaldosteronism type 2B 0 0 10 1 0 11
Smith-Lemli-Opitz syndrome 4 2 5 0 0 11
Spermatogenic failure 39 0 5 6 0 0 11
Tuberous sclerosis 2 0 0 4 4 3 11
Tumor predisposition syndrome 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cerebroretinal microangiopathy with calcifications and cysts 3 0 0 4 4 3 11
Werner syndrome 0 2 7 2 0 11
von Willebrand disease type 1; von Willebrand disease type 3 0 4 7 0 0 11
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2 1 7 0 0 10
Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial 1 1 8 0 0 10
Ataxia-telangiectasia syndrome 0 0 7 3 0 10
Autosomal recessive inherited pseudoxanthoma elasticum 0 2 8 0 0 10
Bethlem myopathy 2 0 0 10 0 0 10
Bile duct cancer 0 0 3 4 3 10
Biotinidase deficiency 2 2 5 0 1 10
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 0 0 8 2 0 10
Carney complex, type 1 1 6 1 0 2 10
Charcot-Marie-Tooth disease 0 1 8 1 0 10
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 0 1 9 0 0 10
Cobalamin C disease 4 0 5 1 0 10
Congenital afibrinogenemia 0 0 10 0 0 10
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 1 1 7 0 1 10
Ehlers-Danlos syndrome, dermatosparaxis type 0 2 8 0 0 10
Global developmental delay with or without impaired intellectual development 0 0 8 2 0 10
Glycine encephalopathy 1 0 0 9 1 0 10
Glycogen storage disease type III 1 2 6 1 0 10
Hereditary macular dystrophy 2 0 8 0 0 10
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 0 1 7 0 2 10
Infantile nephronophthisis 1 2 7 0 0 10
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 1 2 6 0 10
Maturity-onset diabetes of the young type 8 0 0 10 0 0 10
Monogenic diabetes 0 1 7 0 2 10
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome 1 0 7 2 0 10
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 8 1 0 10
Perlman syndrome 0 0 9 1 0 10
Peroxisome biogenesis disorder 4 1 4 1 0 10
Primary ciliary dyskinesia 7 2 5 3 0 0 10
Spinocerebellar ataxia 45 0 0 5 5 0 10
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 4 6 0 0 10
46,XY sex reversal 6 0 0 8 1 0 9
Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 0 0 8 1 0 9
Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 7 1 0 9
Arrhythmogenic right ventricular cardiomyopathy 0 1 7 1 0 9
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 9 0 0 9
Autosomal recessive congenital ichthyosis 4B 0 0 7 1 1 9
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 0 1 7 0 1 9
Autosomal recessive nonsyndromic hearing loss 79 0 2 7 0 0 9
Autosomal recessive osteopetrosis 1 1 1 7 0 0 9
Birt-Hogg-Dube syndrome 1 1 0 2 2 4 9
Brain small vessel disease 1 with or without ocular anomalies 0 0 9 0 0 9
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1 0 0 6 2 1 9
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 1 6 1 0 9
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 2 0 7 0 0 9
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 9 0 0 9
Episodic pain syndrome, familial, 2 0 0 9 0 0 9
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer 2 1 1 5 0 9
Familial cancer of breast; Fanconi anemia complementation group J 2 2 1 3 1 9
GEN1-related disorder 0 0 4 3 2 9
Gastrointestinal stromal tumor 0 0 2 3 4 9
Generalized juvenile polyposis/juvenile polyposis coli 2 1 4 2 0 9
Glutaric aciduria, type 1 3 3 2 0 1 9
Hereditary sensory and autonomic neuropathy type 6 0 1 7 1 0 9
Hermansky-Pudlak syndrome 6 0 2 7 0 0 9
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 0 9 0 0 9
Hypercholesterolemia, familial, 1 1 0 7 0 1 9
Johanson-Blizzard syndrome 0 0 8 1 0 9
Mandibular hypoplasia-deafness-progeroid syndrome 0 0 3 6 0 9
Muscle AMP deaminase deficiency 0 0 9 0 0 9
Myopathy, proximal, and ophthalmoplegia 0 3 6 0 0 9
Osteochondritis dissecans 0 0 9 0 0 9
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 0 1 6 1 1 9
Smith-Magenis syndrome 0 0 7 1 1 9
Spermatogenic failure 25 0 8 1 0 0 9
Spermatogenic failure 34 0 2 7 0 0 9
Tuberous sclerosis 1 0 0 3 3 3 9
Type 2 diabetes mellitus 0 0 9 0 0 9
5-Oxoprolinase deficiency 0 3 4 0 1 8
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 0 1 7 0 0 8
Alkaptonuria 2 1 5 0 0 8
Alpha-1-antitrypsin deficiency 3 1 4 0 0 8
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 3 4 1 0 8
Autosomal dominant nonsyndromic hearing loss 56 0 0 5 3 0 8
Autosomal dominant vibratory urticaria 0 0 7 1 0 8
Autosomal recessive nonsyndromic hearing loss 8 2 1 5 0 0 8
Autosomal recessive nonsyndromic hearing loss 84B 1 6 1 0 0 8
Brachydactyly type B1; Autosomal recessive Robinow syndrome 0 0 8 0 0 8
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 7 1 0 0 0 8
Capillary infantile hemangioma 0 0 6 1 1 8
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 1 0 6 1 0 8
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 0 0 7 0 1 8
Cone-rod dystrophy 15 1 1 6 0 0 8
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 7 1 0 8
Congenital hyperammonemia, type I 0 1 7 0 0 8
Deficiency of butyrylcholinesterase 1 7 0 0 0 8
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9 0 0 6 1 1 8
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 6 2 0 8
Familial melanoma 1 0 3 2 2 8
Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 3 0 2 1 2 8
Galactosylceramide beta-galactosidase deficiency 4 0 2 1 1 8
Hereditary mucoepithelial dysplasia; IFAP syndrome 2 0 0 7 1 0 8
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 0 0 8 0 0 8
Hermansky-Pudlak syndrome 1 1 0 7 0 0 8
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 8 0 0 8
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 2 6 0 0 8
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 0 0 8 0 0 8
Intellectual disability, autosomal dominant 43 0 0 1 7 0 8
Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 0 0 7 1 0 8
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 0 0 7 1 0 8
MORM syndrome; Joubert syndrome 1 1 0 7 0 0 8
Mucolipidosis type II; Pseudo-Hurler polydystrophy 2 0 6 0 0 8
Mucopolysaccharidosis type 7 0 2 6 0 0 8
Mucopolysaccharidosis, MPS-III-A 2 0 6 0 0 8
Neuronal ceroid lipofuscinosis 0 0 6 1 1 8
O'Donnell-Luria-Rodan syndrome 0 0 8 0 0 8
Papillary renal cell carcinoma type 1 0 1 2 1 4 8
Patterned macular dystrophy 2 0 1 3 2 2 8
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2 0 6 0 0 8
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 0 8 0 0 8
RAD51D-related cancer predisposition 1 0 3 4 0 8
Retinitis pigmentosa; Retinitis pigmentosa 66 0 0 8 0 0 8
Rotor syndrome 1 4 3 0 0 8
Seckel syndrome 1 0 0 6 0 2 8
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 0 6 2 0 8
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 0 1 7 0 0 8
3M syndrome 2 0 2 5 0 0 7
Achromatopsia 3 3 2 2 0 0 7
Aortic valve disease 3 0 1 6 0 0 7
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 0 2 3 1 1 7
Atrial conduction disease 0 0 6 1 0 7
BBS1-related ciliopathy 0 0 6 0 1 7
BBS9-related ciliopathy 0 0 7 0 0 7
Brain small vessel disease 2A, autosomal dominant 0 0 5 1 1 7
CHEK2-related cancer predisposition; Familial prostate cancer 2 0 4 1 0 7
CNGA3-related retinopathy 1 0 6 0 0 7
CNGB3-related retinopathy 1 0 6 0 0 7
Charcot-Marie-Tooth disease axonal type 2P 0 1 5 1 0 7
Charcot-Marie-Tooth disease type 4H 0 1 5 1 0 7
Citrullinemia type I 4 1 2 0 0 7
Classic homocystinuria 3 0 4 0 0 7
Congenital disorder of glycosylation with defective fucosylation 2 0 2 5 0 0 7
Congenital stationary night blindness 1E 1 3 3 0 0 7
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4 0 1 6 0 0 7
Coronary artery disease, autosomal dominant 2; Tooth agenesis, selective, 7 0 0 6 1 0 7
Cutis laxa with osteodystrophy 0 0 7 0 0 7
Deficiency of ferroxidase 0 1 5 1 0 7
Dilated cardiomyopathy 1DD 0 0 7 0 0 7
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 4 3 0 0 7
Ehlers-Danlos syndrome, type 4 0 0 7 0 0 7
Eichsfeld type congenital muscular dystrophy 2 2 3 0 0 7
Elliptocytosis 3; Hereditary spherocytosis type 2 0 0 7 0 0 7
Familial hypokalemia-hypomagnesemia 1 3 3 0 0 7
Gaucher disease 3 1 3 0 0 7
Glaucoma 3, primary infantile, B; Multiple cutaneous and mucosal venous malformations; Glaucoma 3, primary congenital, E 0 2 4 1 0 7
Glucocorticoid deficiency with achalasia 1 0 6 0 0 7
Gorlin syndrome 1 2 0 3 1 7
Hemochromatosis type 3 0 1 6 0 0 7
Hereditary factor XI deficiency disease 3 0 4 0 0 7
Hereditary fructosuria 3 0 4 0 0 7
Hereditary spherocytosis 0 0 7 0 0 7
Heterotaxy, visceral, 8, autosomal 0 4 3 0 0 7
Holocarboxylase synthetase deficiency 0 1 6 0 0 7
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 2 4 0 0 7
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy 0 2 5 0 0 7
Indifference to pain, congenital, autosomal dominant 0 0 6 1 0 7
Intellectual disability, autosomal recessive 47 0 3 1 3 0 7
Isovaleryl-CoA dehydrogenase deficiency 0 2 5 0 0 7
Joubert syndrome 17 2 0 5 0 0 7
Juvenile polyposis syndrome 0 0 3 4 0 7
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4 0 0 7 0 0 7
Li-Fraumeni syndrome; Familial pancreatic carcinoma 0 0 1 2 4 7
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 0 6 1 0 7
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 0 0 6 0 1 7
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 2 2 0 1 7
Multiple epiphyseal dysplasia type 5; Spondyloepimetaphyseal dysplasia, matrilin-3 type; Osteoarthritis susceptibility 2 0 0 6 0 1 7
Myasthenic syndrome, congenital, 22 1 1 4 1 0 7
Myopia 24, autosomal dominant 0 0 7 0 0 7
Neuroblastoma, susceptibility to, 3 0 0 3 1 3 7
Neutral 1 amino acid transport defect 1 1 4 1 0 7
PULMONARY ALVEOLAR MICROLITHIASIS 0 0 5 2 0 7
Peutz-Jeghers syndrome; Familial pancreatic carcinoma 0 0 5 2 0 7
Platelet-type bleeding disorder 20 0 0 6 1 0 7
Polyposis syndrome, hereditary mixed, 2 0 2 1 0 4 7
Primary ciliary dyskinesia 3 0 2 5 0 0 7
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 6 0 0 7
Progressive familial intrahepatic cholestasis type 2 0 0 7 0 0 7
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 6 0 0 7
Retinitis pigmentosa 38 2 0 5 0 0 7
Rubinstein-Taybi syndrome 0 0 6 1 0 7
Spermatogenic failure 46 0 4 3 0 0 7
Spermatogenic failure 65 0 6 0 1 0 7
Spinocerebellar ataxia type 1 0 0 5 2 0 7
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 1 1 5 0 0 7
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 6 0 1 7
Trimethylaminuria 1 3 2 0 1 7
Tubulointerstitial kidney disease, autosomal dominant, 2 0 1 6 0 0 7
Usher syndrome type 1D 1 3 3 0 0 7
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 1 6 0 0 7
Vesicoureteral reflux 2 0 0 7 0 0 7
Von Hippel-Lindau syndrome 0 5 0 0 2 7
ALS2-related motor neuron disease 0 0 5 1 0 6
AP-4 deficiency syndrome 0 0 6 0 0 6
ATR-X-related syndrome 0 0 4 2 0 6
Abetalipoproteinaemia 0 1 5 0 0 6
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 1 0 5 0 0 6
Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 6 0 0 6
Acute myeloid leukemia 0 0 6 0 0 6
Amyotrophic lateral sclerosis 0 0 6 0 0 6
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 0 1 5 0 0 6
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 0 1 3 2 0 6
Aural atresia, congenital 0 1 3 2 0 6
Autosomal dominant ichthyosis vulgaris 0 3 3 0 0 6
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 4 1 1 6
Autosomal dominant nonsyndromic hearing loss 5 0 0 6 0 0 6
Autosomal recessive congenital ichthyosis 1 2 1 3 0 0 6
Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 0 1 5 0 0 6
Autosomal recessive nonsyndromic hearing loss 18B 0 2 4 0 0 6
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 1 0 5 0 0 6
BEST1-related dominant retinopathy 1 0 5 0 0 6
Bartter disease type 1 0 4 2 0 0 6
Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 0 0 4 2 0 6
Benign concentric annular macular dystrophy; Vitelliform macular dystrophy 4 0 1 5 0 0 6
Biotin-responsive basal ganglia disease 0 1 5 0 0 6
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 0 0 5 0 1 6
Carnitine palmitoyltransferase II deficiency 0 0 6 0 0 6
Cone-rod dystrophy and hearing loss 2 0 2 3 1 0 6
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 6 0 0 6
DPAGT1-congenital disorder of glycosylation 0 0 6 0 0 6
Deafness-infertility syndrome; Autosomal recessive nonsyndromic hearing loss 16; Spermatogenic failure 7 0 0 5 1 0 6
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 4 1 1 6
Duane-radial ray syndrome; Oculootoradial syndrome 0 0 4 1 1 6
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 3 3 0 6
Erythrocytosis, familial, 6 4 1 1 0 0 6
Familial acute necrotizing encephalopathy 0 0 5 0 1 6
Familial hemophagocytic lymphohistiocytosis 3 3 1 2 0 0 6
Familial thoracic aortic aneurysm and aortic dissection 1 0 5 0 0 6
Finnish congenital nephrotic syndrome 0 0 5 0 1 6
Fructose-biphosphatase deficiency 1 1 4 0 0 6
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 0 0 2 4 0 6
Hearing loss, autosomal recessive 0 0 5 1 0 6
Hermansky-Pudlak syndrome 5 0 2 4 0 0 6
Holoprosencephaly 4 0 0 5 1 0 6
Hypogonadotropic hypogonadism 18 with or without anosmia 0 0 6 0 0 6
Hypogonadotropic hypogonadism 7 with or without anosmia 3 0 3 0 0 6
Intellectual developmental disorder with seizures and language delay 0 1 5 0 0 6
Intellectual disability 0 0 4 2 0 6
Junctional epidermolysis bullosa 0 0 6 0 0 6
Kleefstra syndrome 1 0 0 6 0 0 6
Lynch syndrome 1 0 0 3 1 2 6
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 0 0 6 0 0 6
Malignant hyperthermia, susceptibility to, 5 0 1 5 0 0 6
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 1 5 0 0 6
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 1 2 2 1 0 6
Microcephaly and chorioretinopathy 1 1 2 3 0 0 6
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 5 0 1 6
Monilethrix-1 0 0 6 0 0 6
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 1 2 3 0 0 6
Myeloperoxidase deficiency 1 5 0 0 0 6
Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 6 0 0 6
NTHL1-deficiency tumor predisposition syndrome 3 0 2 1 0 6
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 6 0 0 6
Nephrotic syndrome, type 3 0 0 6 0 0 6
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 0 0 6 0 0 6
Oculofaciocardiodental syndrome 0 0 1 4 1 6
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 0 1 5 0 0 6
Osteogenesis imperfecta type 8 0 1 5 0 0 6
Ovarian cancer 0 0 3 3 0 6
Periventricular nodular heterotopia 9; Hearing loss, autosomal dominant 83 0 0 6 0 0 6
Pheochromocytoma 0 0 4 2 0 6
Pigmented nodular adrenocortical disease, primary, 2 0 2 4 0 0 6
Plasminogen deficiency, type I; Angioedema, hereditary, 4 1 0 4 1 0 6
Primary ciliary dyskinesia 1 4 1 0 0 6
Primary ciliary dyskinesia 15 0 3 3 0 0 6
Primary hyperoxaluria type 3 3 2 1 0 0 6
Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 0 0 6 0 0 6
Proline dehydrogenase deficiency; Schizophrenia 4 0 0 5 1 0 6
Protoporphyria, erythropoietic, 1 1 1 3 0 1 6
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 3 3 0 6
Retinitis pigmentosa 28 0 0 5 1 0 6
Retinitis pigmentosa 43 0 0 6 0 0 6
Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 0 0 6 0 0 6
Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 0 0 5 1 0 6
Short QT syndrome type 1; Long QT syndrome 2 0 0 6 0 0 6
Sinoatrial node dysfunction and deafness 0 0 6 0 0 6
Sitosterolemia 1 3 2 0 0 6
Spinocerebellar ataxia type 35 0 0 5 1 0 6
Spinocerebellar ataxia type 42 0 0 6 0 0 6
Stromme syndrome 0 4 2 0 0 6
Stüve-Wiedemann syndrome 1 0 1 5 0 0 6
Syndromic complex neurodevelopmental disorder 1 0 3 2 0 6
Tremor, hereditary essential, 5 0 0 6 0 0 6
Tumor predisposition syndrome 3 1 0 4 0 1 6
Upshaw-Schulman syndrome 0 0 5 1 0 6
Wiedemann-Steiner syndrome 0 0 5 1 0 6
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 0 1 5 0 0 6
Advanced sleep phase syndrome 3 0 0 5 0 0 5
Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, IIa 2II 0 0 4 1 0 5
Alanine glyoxylate aminotransferase deficiency 0 0 5 0 0 5
Alpha-fetoprotein, hereditary persistence of 0 0 4 1 0 5
Amyotrophic lateral sclerosis type 19 0 0 4 1 0 5
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 1 0 2 1 1 5
Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4; Myopathy, congenital, with tremor 0 0 5 0 0 5
Atrial fibrillation, familial, 7 0 0 5 0 0 5
Autosomal dominant nonsyndromic hearing loss 70 0 0 3 2 0 5
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 0 0 5 0 0 5
Autosomal recessive nonsyndromic hearing loss 42 0 1 4 0 0 5
BBS7-related ciliopathy 0 0 4 1 0 5
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2 0 3 0 0 5
Bartter disease type 2 0 1 4 0 0 5
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 1 2 2 0 0 5
Bohring-Opitz syndrome 0 0 2 3 0 5
Brachydactyly-arterial hypertension syndrome 0 0 5 0 0 5
CHRNG-associated hypo-akinesia disorder of prenatal onset 0 0 3 2 0 5
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 2 0 3 0 0 5
Cataract 13 with adult I phenotype 0 0 5 0 0 5
Cataract 43; Myofibrillar myopathy 11 0 0 5 0 0 5
Cataract 6 multiple types 0 0 4 0 1 5
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 3 2 0 5
Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 0 0 5 0 0 5
Cholestanol storage disease 2 0 3 0 0 5
Colorectal cancer, susceptibility to, 10 0 0 4 1 0 5
Complement component 5 deficiency 0 1 4 0 0 5
Complement component 6 deficiency 1 3 1 0 0 5
Congenital myotonia, autosomal dominant form 0 0 5 0 0 5
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 3 0 2 0 0 5
Congenital stationary night blindness 1B 0 2 3 0 0 5
Cryptophthalmos syndrome 0 5 0 0 0 5
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 3 2 0 0 5
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 3 0 1 5
Developmental and epileptic encephalopathy, 18 0 2 3 0 0 5
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 1 4 0 0 5
Dominant hypophosphatemia with nephrolithiasis or osteoporosis 0 0 4 1 0 5
Dubin-Johnson syndrome 1 4 0 0 0 5
Dyskeratosis congenita 0 2 3 0 0 5
Dyskinesia with orofacial involvement, autosomal dominant 0 0 4 1 0 5
Dystonia 24 0 0 5 0 0 5
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 1 3 0 1 5
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 4 0 0 5
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 0 2 3 0 0 5
Epidermolysis bullosa, junctional 6, with pyloric atresia 0 0 5 0 0 5
Epidermolytic palmoplantar keratoderma, 1 0 0 5 0 0 5
Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 0 3 2 0 0 5
Erythrokeratodermia variabilis et progressiva 2 0 0 4 1 0 5
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 2 3 0 0 5
Familial cold autoinflammatory syndrome 2 0 2 3 0 0 5
Familial juvenile hyperuricemic nephropathy type 1 0 0 4 1 0 5
Fibrous dysplasia of jaw 0 0 5 0 0 5
Fleck corneal dystrophy 0 2 3 0 0 5
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 3 2 0 5
Focal epilepsy 0 0 4 0 1 5
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 5 0 0 5
Gastric cancer 0 0 3 2 0 5
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 3 1 1 2 1 0 5
Glutaryl-CoA oxidase deficiency 0 1 4 0 0 5
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 0 5 0 0 5
Heparin cofactor II deficiency 0 1 3 1 0 5
Hereditary antithrombin deficiency 1 1 3 0 0 5
Hereditary glaucoma, primary closed-angle; Knobloch syndrome 1 0 1 2 1 1 5
Hydrocephalus, congenital communicating, 1 0 0 4 1 0 5
Hypercalcemia, infantile, 1 2 2 1 0 0 5
Hypercholesterolemia, autosomal dominant, 3 0 0 4 0 1 5
Hyperglycinuria 0 0 5 0 0 5
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 0 0 3 2 0 5
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 5 0 0 5
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 5 0 0 5
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 0 0 5 0 0 5
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 0 5 0 0 5
Immunodeficiency, common variable, 14 0 0 5 0 0 5
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 3 2 0 5
Interstitial lung disease 1 0 0 4 0 1 5
Joubert syndrome 15 0 0 5 0 0 5
Kartagener syndrome 3 2 0 0 0 5
Landau-Kleffner syndrome 0 0 5 0 0 5
Leber congenital amaurosis 5 1 0 4 0 0 5
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 3 2 0 0 5
Long QT syndrome 0 0 5 0 0 5
Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 0 0 3 2 0 5
Lynch syndrome 8 3 0 2 0 0 5
Mannose-binding lectin deficiency 0 0 3 0 2 5
Maple syrup urine disease type 1B 4 0 1 0 0 5
Matthew-Wood syndrome 0 2 3 0 0 5
Meckel syndrome 13 0 2 3 0 0 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 4 0 0 0 5
Microcephalic osteodysplastic primordial dwarfism type II 0 1 4 0 0 5
Microcephaly 18, primary, autosomal dominant 0 0 4 1 0 5
Mitochondrial complex I deficiency, nuclear type 19 0 1 4 0 0 5
Mitochondrial complex I deficiency, nuclear type 4 0 1 4 0 0 5
Mucolipidosis type IV; Lisch epithelial corneal dystrophy 0 1 3 1 0 5
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2 1 2 0 0 5
Myoclonic epilepsy of Lafora 1 1 0 4 0 0 5
Myopia 27 0 0 5 0 0 5
Nephronophthisis 14 0 0 5 0 0 5
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 2 1 2 5
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 2 2 1 5
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 3 2 0 0 5
Neurofibromatosis, type 2 0 1 1 2 1 5
Nonsyndromic congenital nail disorder 3 0 1 4 0 0 5
Oculocutaneous albinism type 3 0 0 4 1 0 5
Oculomaxillofacial dysostosis; Teebi hypertelorism syndrome 1 0 0 3 1 1 5
Odonto-onycho-dermal dysplasia; Schöpf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 0 2 3 0 0 5
PMM2-congenital disorder of glycosylation 3 1 1 0 0 5
Parkinson disease 11, autosomal dominant, susceptibility to 0 0 5 0 0 5
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 2 2 0 0 5
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 0 0 5 0 0 5
Pituitary hormone deficiency, combined, 2 2 0 3 0 0 5
Polycystic liver disease 2 0 0 4 1 0 5
Pontocerebellar hypoplasia type 2D 1 1 3 0 0 5
Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 1 0 4 0 0 5
Pontocerebellar hypoplasia type 6 0 1 3 0 1 5
Porokeratosis 7, multiple types 0 1 3 1 0 5
Premature ovarian failure 9 0 3 2 0 0 5
Primary ciliary dyskinesia 21 1 1 3 0 0 5
Primary ciliary dyskinesia 25 1 2 2 0 0 5
Primary dilated cardiomyopathy 0 0 5 0 0 5
Progressive familial intrahepatic cholestasis type 1 0 0 5 0 0 5
Prostate cancer 0 0 3 2 0 5
Right atrial isomerism; Congenital heart defects, multiple types, 6 1 3 1 0 0 5
Senior-Loken syndrome 5 1 1 2 0 1 5
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 0 4 1 0 5
Spermatogenic failure 28; Premature ovarian failure 15 1 2 2 0 0 5
Spermatogenic failure 33 0 4 1 0 0 5
Spinocerebellar ataxia type 11 0 0 3 2 0 5
Spinocerebellar ataxia type 25; Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 0 0 5 0 0 5
Spondylocostal dysostosis 1, autosomal recessive 0 1 4 0 0 5
Succinate-semialdehyde dehydrogenase deficiency 0 0 5 0 0 5
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 0 0 4 1 0 5
Tatton-Brown-Rahman overgrowth syndrome 1 0 4 0 0 5
Treacher Collins syndrome 1 0 0 4 1 0 5
Tuberous sclerosis syndrome; Lung lymphangioleiomyomatosis 0 0 1 2 2 5
Tyrosinemia type I 3 0 2 0 0 5
Vitamin D-dependent rickets type II with alopecia 0 0 4 0 1 5
Weiss-Kruszka syndrome 0 0 3 1 1 5
Wilms tumor 5 0 0 5 0 0 5
Wolcott-Rallison dysplasia 0 2 3 0 0 5
X-linked erythropoietic protoporphyria 0 0 3 0 2 5
Xeroderma pigmentosum, group C 0 0 2 2 1 5
Zimmermann-Laband syndrome 3 0 0 4 1 0 5
3-hydroxyisobutyryl-CoA hydrolase deficiency 1 1 0 2 0 4
APOBEC3B-related condition 0 0 2 1 1 4
Aarskog syndrome 0 0 3 1 0 4
Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 1 3 0 0 4
Acheiropodia; Laurin-Sandrow syndrome; Syndactyly type 4; Triphalangeal thumb-polysyndactyly syndrome 0 0 4 0 0 4
Achondrogenesis, type IA; Odontochondrodysplasia 1 0 0 4 0 0 4
Achromatopsia 2 0 1 3 0 0 4
Achromatopsia 4 0 0 3 1 0 4
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome; Short stature with nonspecific skeletal abnormalities 1 0 0 4 0 0 4
Acyl-CoA dehydrogenase 9 deficiency 2 0 1 0 1 4
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 0 0 4 0 0 4
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 0 4 0 0 4
Alexander disease 0 0 4 0 0 4
Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1 0 0 4 0 0 4
Amelogenesis imperfecta type 1C; Amelogenesis imperfecta - hypoplastic autosomal dominant - local 1 1 2 0 0 4
Amelogenesis imperfecta, type 3A 0 0 4 0 0 4
Amyotrophic lateral sclerosis type 23 0 0 3 1 0 4
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 1 3 0 0 4
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 4 0 0 4
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 4 0 0 4
Argininosuccinate lyase deficiency 2 2 0 0 0 4
Arrhinia with choanal atresia and microphthalmia syndrome; Facioscapulohumeral muscular dystrophy 2 0 0 4 0 0 4
Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 0 0 3 1 0 4
Aspartylglucosaminuria 0 0 4 0 0 4
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 3 0 0 4
Ataxia-telangiectasia-like disorder 1 1 1 2 0 0 4
Atypical hemolytic-uremic syndrome 0 0 4 0 0 4
Autosomal dominant slowed nerve conduction velocity 0 0 4 0 0 4
Autosomal recessive DOPA responsive dystonia 0 0 4 0 0 4
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 2 2 0 0 0 4
Autosomal recessive congenital ichthyosis 2 0 0 4 0 0 4
Autosomal recessive juvenile Parkinson disease 2; Ovarian cancer; Lung cancer 2 0 2 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 3 0 1 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 1 1 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 1 1 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 0 0 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 35 0 0 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 36; Usher syndrome, type 1M 0 0 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 63 0 0 4 0 0 4
Azorean disease 0 1 3 0 0 4
BBS12-related ciliopathy 0 0 4 0 0 4
Bartter syndrome type 4 1 1 2 0 0 4
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3 0 0 4 0 0 4
Beta-D-mannosidosis 0 3 1 0 0 4
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 0 3 0 1 4
Branchiootorenal syndrome 2 0 0 4 0 0 4
Brody myopathy 1 3 0 0 0 4
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 1 1 2 0 0 4
C3 glomerulonephritis 0 0 4 0 0 4
CARASIL syndrome; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 4 0 0 4
CHARGE syndrome 0 0 4 0 0 4
COACH syndrome 1; Joubert syndrome 6; RHYNS syndrome; Nephronophthisis 11 2 2 0 0 0 4
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 3 1 0 4
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 3 1 0 4
Cardiomyopathy, familial hypertrophic 27 0 4 0 0 0 4
Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome 0 0 2 2 0 4
Cataract 12 multiple types 0 0 4 0 0 4
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2 2 0 0 0 4
Cerebral cavernous malformation 0 0 4 0 0 4
Cerebral cavernous malformation 2 0 0 4 0 0 4
Charcot-Marie-Tooth disease axonal type 2N 0 1 3 0 0 4
Chromosome 17q11.2 deletion syndrome, 1.4Mb 2 0 0 1 1 4
Clark-Baraitser syndrome 0 0 3 1 0 4
Cockayne syndrome type 1; UV-sensitive syndrome 2 0 1 3 0 0 4
Coffin-Siris syndrome 1 0 0 3 1 0 4
Coffin-Siris syndrome 8 0 0 2 1 1 4
Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 0 0 4 0 0 4
Combined malonic and methylmalonic acidemia 1 2 1 0 0 4
Combined oxidative phosphorylation defect type 20 0 3 1 0 0 4
Combined oxidative phosphorylation defect type 4 0 1 3 0 0 4
Complement component 7 deficiency