ClinVar Miner

Variants from Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service

Location: United Kingdom  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
681 332 1308 444 220 2974

Gene and significance breakdown #

Total genes and gene combinations: 982
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LDLR 94 51 34 1 0 180
BRCA2 42 4 6 8 6 66
APOB 0 1 52 5 2 60
TTN 2 0 37 14 2 54
MC4R 7 14 21 1 1 44
TSC2 24 5 6 3 4 42
BRCA1 20 2 4 1 8 35
PKD1 11 3 13 2 0 29
COL2A1 22 2 1 0 0 25
CASR 2 11 11 0 0 24
SYNE1 0 0 12 11 0 23
TSC1 14 0 5 3 1 23
PCSK9 3 0 13 1 3 20
ALPL 9 6 4 0 0 19
APOE 1 2 10 2 0 15
MSH6 6 1 7 0 1 15
PALB2 7 2 3 2 1 15
GNAS 2 4 5 2 1 14
LDLRAP1 1 0 12 1 0 14
MLH1 8 2 3 1 0 14
RYR1 0 1 7 6 0 14
ATM, C11orf65 7 1 4 0 1 13
KMT2D 0 2 4 5 2 13
MSH2 8 0 2 3 0 13
CREBBP 1 3 4 3 1 12
DMD 0 0 4 7 1 12
DUOX2 2 1 7 2 0 12
MYT1L 0 4 7 1 0 12
PKHD1 5 2 5 0 0 12
VPS13B 1 0 5 3 3 12
ANKRD11 0 0 6 4 1 11
PMS2 7 0 3 1 0 11
RET 1 0 7 3 0 11
TG 4 1 5 1 0 11
APC 5 1 2 1 1 10
KIDINS220 1 0 5 4 0 10
ASXL3 3 1 1 2 2 9
CACNA1A 2 0 7 0 0 9
COL1A2 3 2 2 1 1 9
COL4A1 0 1 6 1 1 9
FAT4 0 0 4 2 3 9
KDM6A 0 1 4 5 0 9
MYO15A 7 2 0 0 0 9
SRCAP 0 1 4 4 0 9
ATAD3A 0 0 6 0 2 8
ATM 5 0 2 0 1 8
BCOR 1 0 3 4 0 8
CHEK2 3 2 3 0 0 8
COL11A1 5 2 0 1 0 8
COL6A3 1 1 5 0 1 8
LAMA2 0 0 4 4 0 8
MED13L 2 0 3 2 1 8
NEB 2 1 5 0 0 8
NF1 1 2 2 3 0 8
NHS 0 0 1 6 1 8
NOTCH3 6 1 1 0 0 8
PHEX 5 0 3 0 0 8
PKD2 4 0 4 0 0 8
SACS 0 4 4 0 0 8
SPTAN1 0 0 4 3 1 8
THRB 5 3 0 0 0 8
ADGRV1 0 0 3 4 0 7
CAST, LOC101929710, PCSK1 1 0 5 0 1 7
CHD2 3 1 2 0 1 7
CHD8 2 0 3 2 0 7
CIC 0 0 4 3 0 7
GJB2 7 0 0 0 0 7
MYBPC3 3 1 2 1 0 7
RAI1 1 0 1 4 1 7
SCN2A 2 0 5 0 0 7
SHANK3 1 1 4 0 1 7
TRIO 0 0 5 2 0 7
TSHR 3 1 1 2 0 7
USP9X 0 0 6 1 0 7
AHDC1 2 1 1 2 0 6
ATRX 0 1 2 3 0 6
BRCA1, LOC126862571 4 0 1 0 1 6
CACNA1D 0 0 3 2 1 6
CCDC40 6 0 0 0 0 6
CCDC88C 0 0 5 1 0 6
DEPDC5 2 0 3 0 1 6
DYNC1H1 0 1 5 0 0 6
FLNA 0 0 6 0 0 6
GLI3 1 0 3 2 0 6
HCFC1 0 0 3 2 1 6
IRAK1BP1, PHIP 1 1 2 2 0 6
KCNT1 1 0 3 2 0 6
KDM5B 0 0 4 2 0 6
KMT2A 1 2 1 1 1 6
MAGEL2 0 0 5 1 0 6
MBTPS2 0 0 1 4 1 6
MYO7A 0 0 5 1 0 6
PCNT 0 0 2 3 1 6
PHIP 2 0 3 1 0 6
PTPN11 4 0 0 2 0 6
SDHA 1 1 5 0 0 6
ALG13 0 1 3 1 0 5
ALMS1 2 0 0 0 3 5
AMER1 0 0 1 3 1 5
ARID1A 0 1 1 2 1 5
ARID1B 1 0 3 1 0 5
ASH1L 0 0 3 1 1 5
ASXL1 0 0 3 2 0 5
BRIP1 3 0 2 0 0 5
CACNA1G 0 0 3 1 1 5
CCDC22 0 0 0 2 3 5
CDH23 0 0 4 1 0 5
CHD7 1 0 3 1 0 5
COL4A2 0 0 5 0 0 5
COL6A2 0 0 4 1 0 5
DNAH5 5 0 0 0 0 5
EHMT1 1 0 2 2 0 5
ERCC6 0 0 1 0 4 5
FGD1 0 0 2 2 1 5
GRIN2B 1 2 1 0 1 5
HDAC4 0 0 0 4 1 5
HIVEP2 0 0 3 2 0 5
HUWE1 0 0 3 2 0 5
KDM5C 0 2 2 0 1 5
LRP4 0 0 3 2 0 5
MECP2 2 0 2 0 1 5
MEN1 2 2 1 0 0 5
MTOR 1 1 2 1 0 5
NAA15 1 0 2 1 1 5
NTRK2 0 0 5 0 0 5
OFD1 1 0 0 2 2 5
RAD51C 1 2 1 1 0 5
SCN8A 0 1 4 0 0 5
SETD2 0 0 3 0 2 5
SHANK1 0 1 3 1 0 5
SHANK2 0 1 3 1 0 5
SMARCA4 2 0 3 0 0 5
SNHG14, UBE3A 1 0 3 1 0 5
SON 0 0 2 3 0 5
TPO 2 1 2 0 0 5
WAC 1 0 3 1 0 5
AHI1 0 0 2 2 0 4
ALDH18A1 0 0 3 1 0 4
APOB, LOC106560211 0 1 3 0 0 4
AUTS2 0 0 1 3 0 4
BBS9 2 0 2 0 0 4
BMP4 0 1 1 1 1 4
CAMK2B 0 1 2 0 1 4
CBL 0 0 4 0 0 4
CDON 0 0 3 1 0 4
COL1A1 2 0 2 0 0 4
COL4A3, MFF-DT 0 2 2 0 0 4
COL4A4 1 0 3 0 0 4
CPLANE1 0 0 2 0 2 4
CUX2 0 0 2 1 1 4
DYRK1A 1 1 2 0 0 4
EPG5 0 0 0 0 4 4
FGFR3 2 0 1 1 0 4
FLNC 0 0 3 1 0 4
GANAB 2 0 2 0 0 4
GBE1 1 2 2 0 0 4
GCM2 0 1 3 0 0 4
GNB1 1 2 1 0 0 4
IRF2BPL 1 0 0 2 1 4
KANSL1 1 0 1 1 1 4
KAT6B 1 0 1 1 1 4
KIF7 0 0 2 0 2 4
KMT2C 0 0 2 1 1 4
LALTOP, TPO 3 0 1 0 0 4
LEPR 0 1 3 0 0 4
LZTR1 1 0 3 0 0 4
MACF1 0 0 4 0 0 4
MBD5 0 0 1 2 1 4
MED12 0 0 3 0 1 4
NIPBL 0 1 2 1 0 4
NPC1 0 0 4 0 0 4
NSDHL 0 0 0 3 1 4
OGT 0 0 3 1 0 4
PAX8 0 2 1 1 0 4
PGK1 0 0 2 1 1 4
PHEX, PTCHD1 2 2 0 0 0 4
POGZ 0 2 1 1 0 4
POLG 0 0 3 1 0 4
POMC 1 2 0 1 0 4
PTCH1 0 1 2 0 1 4
RTEL1, RTEL1-TNFRSF6B 0 1 3 0 0 4
SGSH 2 2 0 0 0 4
SIM1 0 0 4 0 0 4
SLC26A4 2 2 1 0 0 4
SLC2A1 1 0 1 2 0 4
SLC34A3 0 1 3 0 0 4
SLC6A8 0 0 1 0 3 4
SPG11 2 0 0 0 2 4
TERT 0 0 4 0 0 4
TGFB3 0 0 4 0 0 4
THOC6 0 4 3 0 0 4
UMOD 0 2 2 0 0 4
WFS1 0 0 4 0 0 4
ACAN 0 0 2 1 0 3
ADNP 2 0 1 0 0 3
ARSL 0 0 1 1 1 3
ATP1A3 0 2 1 0 0 3
BBS10 1 1 0 0 1 3
BBS2 1 1 0 0 1 3
BBS5 1 0 0 0 2 3
BPTF 1 0 2 0 0 3
BRF1 0 0 1 2 0 3
BRWD3 0 0 1 0 2 3
BSCL2, HNRNPUL2-BSCL2 0 0 1 2 0 3
C10orf105, CDH23 0 0 2 1 0 3
CACNA1C 0 0 2 0 1 3
CAMTA1 0 0 1 1 1 3
CC2D2A 0 0 2 1 0 3
CDKL5 0 0 1 1 1 3
CHAMP1 0 0 1 2 0 3
CLCN2 0 0 1 2 0 3
CNNM2 0 0 3 0 0 3
COL4A6 0 0 2 1 0 3
CTNNB1 2 0 1 0 0 3
DCX 0 0 3 0 0 3
DNAH11 2 0 1 0 0 3
DNMT3A 0 1 1 1 0 3
EEF1A2 0 0 2 1 0 3
ENPP1 0 0 3 0 0 3
EP300 1 0 1 0 1 3
FAM111A 0 0 2 1 0 3
FOXP1 2 1 0 0 0 3
FTSJ1 0 0 3 0 0 3
GCH1 0 0 2 1 0 3
GH-LCR, SCN4A 0 0 3 0 0 3
GLI2 0 0 2 1 0 3
GNA11 0 1 2 0 0 3
GRIN1 0 1 2 0 0 3
HECW2 0 0 1 1 1 3
HSPG2 0 0 0 1 2 3
KAT6A 0 2 1 0 0 3
KCNA1 0 0 3 0 0 3
KCNB1 2 1 0 0 0 3
KCNQ2 0 0 1 2 0 3
KIF1A 0 0 1 2 0 3
KIF5A 0 1 2 0 0 3
LAMA1 0 0 0 0 3 3
LAMA2, LOC123864065 0 0 2 1 0 3
LAMC3 0 0 0 0 3 3
LARP7, MIR302CHG 2 1 0 0 0 3
LIPE 2 0 1 0 0 3
LMNA 1 1 1 0 0 3
LOXHD1 1 0 0 0 2 3
LRP2 0 1 0 0 2 3
LRP5 1 0 1 1 0 3
MFN2 0 1 1 0 1 3
MYH6 0 0 2 1 0 3
MYH7 0 0 3 0 0 3
MYO5A 0 0 2 1 0 3
NALCN 1 0 2 0 0 3
NLGN3 0 0 1 1 1 3
OCRL 0 0 1 1 2 3
OTOA 0 0 2 1 0 3
PACS1 1 0 1 0 1 3
PACS2 0 0 3 0 0 3
PAK3 0 0 2 0 1 3
PHF6 1 0 1 1 0 3
POLG, POLGARF 0 0 0 3 0 3
POLR3A 0 3 0 0 0 3
PPP2R5D 1 1 0 1 0 3
PTH1R 0 0 2 0 1 3
PUF60 1 1 0 0 1 3
ROBO3 0 0 3 0 0 3
ROR2 0 0 3 0 0 3
SAMD9 0 0 2 1 0 3
SCN1A 0 1 1 0 1 3
SDHB 3 0 0 0 0 3
SEC63 0 2 1 0 0 3
SETD5 1 0 2 0 0 3
SETX 0 0 1 2 0 3
SKI 2 0 0 1 0 3
SMARCA2 0 0 2 0 1 3
SMC1A 0 0 2 1 0 3
SMC3 0 1 2 0 0 3
SOS1 0 0 1 1 1 3
SPECC1L, SPECC1L-ADORA2A 0 0 3 0 0 3
SPG7 2 2 0 0 0 3
SPTBN2 0 0 2 1 0 3
STXBP1 0 2 1 0 0 3
SYNGAP1 2 0 1 0 0 3
TBL1X 0 0 3 0 0 3
TCOF1 0 0 0 2 1 3
TGFBR1 0 1 2 0 0 3
TRPM1 0 0 2 0 1 3
TRPV4 1 0 2 0 0 3
TTR 0 2 1 0 0 3
TUBB4A 1 0 2 0 0 3
UNC80 1 0 2 0 0 3
WDR81 0 0 0 3 0 3
AARS1 1 0 0 1 0 2
ABCA1 0 0 2 0 0 2
ABCB7 0 0 1 0 1 2
ABCC9 0 0 1 1 0 2
ABCC9, KCNJ8 0 0 2 0 0 2
ABL1 0 0 2 0 0 2
ADAR 0 0 0 2 0 2
ADCY5 0 1 1 0 0 2
AGA 2 0 0 0 0 2
ALB 2 0 0 0 0 2
ALOX12B 0 0 2 0 0 2
ALOXE3 2 0 0 0 0 2
ANO3 0 0 2 0 0 2
ANOS1 0 1 1 0 0 2
ARHGAP31 0 0 2 0 0 2
ARID1B, LOC115308161 0 0 0 2 0 2
ASXL2 0 0 1 1 0 2
ATP13A2 0 0 0 2 0 2
ATRIP, ATRIP-TREX1, TREX1 1 0 0 1 0 2
BBS1, ZDHHC24 1 0 1 0 0 2
BCL11A 1 1 0 0 0 2
BRAT1 0 0 2 0 0 2
BRPF1 0 0 0 2 0 2
CACNA1E 0 0 2 0 0 2
CAT 0 0 1 1 0 2
CBS 0 0 0 0 2 2
CCDST, FLG 1 1 0 0 0 2
CDC73 0 1 1 0 0 2
CDK13 0 0 1 1 0 2
CDK5RAP2 0 0 0 2 0 2
CDKN1C 0 0 2 0 0 2
CEP290 0 0 2 0 0 2
CEP41 0 0 2 0 0 2
CFTR 1 0 1 0 0 2
CHD4 0 0 1 1 0 2
CIT 0 0 2 0 0 2
CLCN1 0 0 1 1 0 2
CLCN4 0 0 1 0 1 2
CLTC 1 0 1 0 0 2
CNOT3 0 0 2 0 0 2
COASY 0 2 0 0 0 2
COL5A1 0 0 2 0 0 2
COL5A2 0 0 0 2 0 2
CRB2 0 0 2 0 0 2
CSF1R 0 0 2 0 0 2
CUBN 0 2 0 0 0 2
DDX3X 1 1 0 0 0 2
DEAF1 0 0 1 0 1 2
DHX30 0 0 1 1 0 2
DIAPH1 0 0 2 0 0 2
DMP1, DSPP 0 0 2 1 0 2
DNAH1 0 0 2 0 0 2
DNAI1 2 0 0 0 0 2
DNM1 0 1 1 0 0 2
DNM2 1 0 1 0 0 2
DNMT1 0 0 1 1 0 2
DOCK8 0 0 0 2 0 2
DYNC2H1 0 0 2 0 0 2
EBF3 1 0 0 1 0 2
EBP 0 0 1 0 1 2
EFTUD2 1 0 1 0 0 2
ELAC2 2 0 0 0 0 2
EYS 0 0 2 0 0 2
FAM20C 0 0 2 0 0 2
FBN1 0 0 2 0 0 2
FGF3 0 2 0 0 0 2
FKRP 1 0 0 1 0 2
FLNA, LOC107988032 0 0 2 0 0 2
FLNB 0 0 1 1 0 2
FLT4 0 0 1 1 0 2
FMR1 0 1 1 0 0 2
FOXG1 0 1 0 1 0 2
GABRG2 0 0 2 0 0 2
GALC 0 0 2 0 0 2
GARS1 1 0 1 0 0 2
GFPT1 0 0 2 0 0 2
GJB1 1 1 0 0 0 2
GLDC 0 0 0 0 2 2
GNAO1 0 1 0 0 1 2
GRIN2A 0 0 2 0 0 2
GRN 2 0 0 0 0 2
HERC1 0 0 2 0 0 2
HFE 0 0 2 0 0 2
HOXD13 0 0 0 2 0 2
HSD17B4 0 0 2 0 0 2
HTRA1 0 2 0 0 0 2
IDH2 0 0 2 0 0 2
IFIH1 0 0 0 0 2 2
INPP5K 1 0 1 0 0 2
INTS1 0 0 2 0 0 2
INVS 0 0 2 0 0 2
IQSEC2 1 0 1 0 0 2
KATNB1 0 0 2 0 0 2
KCNC3 1 0 1 0 0 2
KCND3 0 1 1 0 0 2
KCNH1 1 0 1 0 0 2
KCNQ1 2 0 0 0 0 2
KCNQ4 0 0 2 0 0 2
KCNQ5 0 0 1 1 0 2
KCTD7 0 2 0 0 0 2
KDM1A 0 0 2 0 0 2
KIF11 0 0 2 0 0 2
KIF22 0 0 1 1 0 2
KIF5C 0 0 1 1 0 2
KIFBP 0 0 2 0 0 2
L1CAM 0 0 1 0 1 2
LAMP2 0 0 2 0 0 2
LDLRAP1, LOC129929773 1 0 1 0 0 2
LHCGR, STON1-GTF2A1L 2 0 0 0 0 2
LIPE, LOC101930071 0 1 1 0 0 2
LOC102724058, SCN1A 0 0 2 0 0 2
LOC125467768, PCDH19 0 0 2 0 0 2
LOC130001334, PLEC 0 0 2 0 0 2
LRPPRC 0 0 2 0 0 2
MAOA 0 1 1 0 0 2
MAPK8IP3 0 0 2 0 0 2
MAST1 0 0 1 1 0 2
MBOAT7 0 0 2 0 0 2
MKKS 0 0 0 0 2 2
MSTO1 0 0 2 0 0 2
MTR 2 0 0 0 0 2
MUTYH 1 0 0 0 1 2
MYH11, NDE1 1 0 1 0 0 2
MYH14 0 0 2 0 0 2
MYH8, MYHAS 0 0 0 0 2 2
MYO18B 0 0 0 0 2 2
NAGA 0 0 2 0 0 2
NARS2 0 0 2 0 0 2
NBAS 0 0 2 0 0 2
NEB, RIF1 0 0 1 1 0 2
NEFH 0 0 2 0 0 2
NEXMIF 0 1 0 0 1 2
NGLY1 2 0 0 0 0 2
NIPAL4 1 1 0 0 0 2
NMNAT1 0 2 0 0 0 2
NPHP3, NPHP3-ACAD11 0 2 0 0 0 2
NSD1 1 0 0 1 0 2
NSUN2 0 0 2 0 0 2
OPA1 0 2 0 0 0 2
OTOG 0 0 2 0 0 2
OTUD6B 0 0 2 0 0 2
OTX2 0 0 2 0 0 2
PAFAH1B1 0 0 2 0 0 2
PARN 1 0 1 0 0 2
PAX6 1 0 1 0 0 2
PCDH12, RNF14 0 2 0 0 0 2
PDGFRB 0 0 2 0 0 2
PDZD7 2 0 0 0 0 2
PHKA2 0 0 1 1 0 2
PHKB 2 0 0 0 0 2
PHYH 0 0 0 0 2 2
PIEZO2 0 0 2 0 0 2
PITX1 0 0 0 1 1 2
PKLR 2 0 0 0 0 2
PKP2 1 0 0 1 0 2
PNKP 0 0 2 0 0 2
PNPT1 0 0 2 0 0 2
POLA1 0 0 1 1 0 2
POLD1 1 0 1 0 0 2
POLR2F, SOX10 0 0 2 0 0 2
POLR3B 0 0 2 0 0 2
PPARG 0 0 2 0 0 2
PPP1CB 1 1 0 0 0 2
PQBP1 1 0 1 0 0 2
PRKAR1A 0 0 2 0 0 2
PROM1 0 0 2 0 0 2
PROP1 1 1 0 0 0 2
PSMD12 0 1 0 1 0 2
PURA 1 0 1 0 0 2
RAD21 0 0 1 1 0 2
RAD51D, RAD51L3-RFFL 0 0 2 0 0 2
RANBP2 0 0 2 0 0 2
RECQL4 2 0 0 0 0 2
RELN 0 0 1 1 0 2
RERE 0 0 0 1 1 2
RNASEH2B 2 0 0 0 0 2
RP1L1 0 0 2 0 0 2
SALL1 1 0 0 1 0 2
SBDS 2 0 0 0 0 2
SDHD 2 0 0 0 0 2
SETBP1 1 0 0 1 0 2
SH3BP2 0 0 0 1 1 2
SLC12A3 0 2 0 0 0 2
SLC39A14 0 0 0 0 2 2
SLC3A1 0 2 0 0 0 2
SLC52A2 2 0 0 0 0 2
SLC6A20 0 0 2 0 0 2
SLC6A3 0 0 2 0 0 2
SLX4 0 0 2 0 0 2
SMAD4 1 1 0 0 0 2
SMPD1 0 0 2 0 0 2
STK11 0 0 2 0 0 2
STN1 0 2 0 0 0 2
TAF1 0 0 0 1 1 2
TBCD 0 0 2 0 0 2
TBCEL-TECTA, TECTA 0 0 2 0 0 2
TBL1XR1 0 2 0 0 0 2
TCF4 1 0 0 1 0 2
TECPR2 0 0 0 2 0 2
TH 0 0 2 0 0 2
THOC2 0 0 2 0 0 2
TMEM67 0 0 2 0 0 2
TMEM70 0 0 2 0 0 2
TOGARAM1 0 0 2 0 0 2
TRIP12 1 0 1 0 0 2
TUBA1A 2 0 0 0 0 2
UBE3B 0 0 2 0 0 2
UBR1 0 0 2 0 0 2
USH2A 0 0 2 0 0 2
VLDLR 0 0 2 0 0 2
WASF1 0 0 1 1 0 2
WASHC5 0 0 2 0 0 2
WDR26 0 1 1 0 0 2
ZEB2 0 1 0 0 1 2
​intergenic 0 0 0 1 0 1
AAGAB 1 0 0 0 0 1
AARD, EIF3H, LOC105375713, LOC121331310, LOC126860477, LOC130000986, LOC130000987, LOC130000988, LOC130000989, LOC130000990, LOC130000991, LOC130000992, LOC130000993, LOC130000994, LOC130000995, LOC130000996, LOC130000997, MIR3610, RAD21, SLC30A8, UTP23 0 0 0 1 0 1
AARS1, CLEC18C, EXOSC6, LOC105371328, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC400541, PDPR 0 0 0 0 1 1
AASS, LOC129999210, LOC129999211 0 0 0 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 1
ABCA4 0 0 1 0 0 1
ABCA4, LOC126805793 1 0 0 0 0 1
ABCD1 0 0 1 0 0 1
ABCD1, PLXNB3 0 0 1 0 0 1
ABHD18, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC132089024, LOC132089025, LOC132090713, MFSD8, PLK4 1 0 0 0 0 1
ACE2, ACE2-DT, AMELX, AP1S2, ARHGAP6, ASB11, ASB9, ATXN3L, BMX, CA5B, CA5BP1-CA5B, CLCN4, CLDN34, CLTRN, CTPS2, EGFL6, FAM9C, FANCB, FRMPD4, GEMIN8, GLRA2, GPM6B, GPR143, GRPR, GS1-600G8.3, HCCS, HCCS-DT, INE2, LINC01203, LINC02154, LOC101928389, LOC105373133, LOC106799844, LOC107985657, LOC111242786, LOC111365193, LOC113845783, LOC113845784, LOC113845789, LOC113875006, LOC113875013, LOC113875040, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC117134593, LOC118966792, LOC121627958, LOC121627960, LOC121627961, LOC121853049, LOC121853050, LOC121853051, LOC125446268, LOC125446269, LOC125446270, LOC125446271, LOC125446272, LOC125446273, LOC126863205, LOC126863206, LOC126863207, LOC126863208, LOC126863209, LOC126863210, LOC126863211, LOC126863212, LOC126863213, LOC126863214, LOC126863215, LOC126863216, LOC129391293, LOC129391294, LOC129391295, LOC130067925, LOC130067926, LOC130067927, LOC130067928, LOC130067929, LOC130067930, LOC130067931, LOC130067932, LOC130067933, LOC130067934, LOC130067935, LOC130067936, LOC130067937, LOC130067938, LOC130067939, LOC130067940, LOC130067941, LOC130067942, LOC130067943, LOC130067944, LOC130067945, LOC130067946, LOC130067947, LOC130067948, LOC130067949, LOC130067950, LOC130067951, LOC130067952, LOC130067953, LOC130067954, LOC130067955, LOC130067956, LOC130067957, LOC130067958, LOC130067959, LOC130067960, LOC130067961, LOC130067962, LOC130067963, LOC130067964, LOC130067965, LOC130067966, LOC130067967, LOC130067968, LOC130067969, LOC130067970, LOC130067971, LOC130067972, LOC130067973, LOC130067974, LOC130067975, LOC130067976, LOC130067977, LOC130067978, LOC130067979, LOC130067980, LOC130067981, LOC130067982, LOC130067983, LOC130067984, LOC130067985, LOC130067986, LOC130067987, LOC130067988, LOC130067989, LOC130067990, LOC130067991, LOC130067992, LOC130067993, LOC130067994, LOC130067995, LOC130067996, LOC130067997, MAGEB17, MID1, MIR4768, MIR548AM, MIR548AX, MIR6086, MOSPD2, MSL3, MSL3-DT, NHS, OFD1, PIGA, PIR, PIR-FIGF, PRPS2, RAB9A, RBBP7, REPS2, S100G, SHROOM2, SYAP1, TBL1X, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2, TXLNG, VEGFD, WWC3, ZRSR2 1 0 0 0 0 1
ACSL4 0 0 0 1 0 1
ACSL6, CARINH, CSF2, FNIP1, IL13, IL3, IL4, IL5, IRF1, KIF3A, LINC02863, LOC107198087, LOC108281143, LOC108449898, LOC110121107, LOC112997558, LOC121079960, LOC121079961, LOC123497968, LOC126807506, LOC126807507, LOC126807508, LOC129389362, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, MEIKIN, MIR3936, MIR3936HG, MIR6830, P4HA2, PDLIM4, RAD50, RAPGEF6, SLC22A4, SLC22A5, TH2-LCR, TH2LCRR 0 0 1 0 0 1
ACTB 0 1 0 0 0 1
ACTB, ADAP1, AIMP2, AMZ1, ANKRD61, AP5Z1, BRAT1, C1GALT1, CARD11, CCZ1, CCZ1B, CHLSN, CHST12, COL28A1, COX19, COXFA4, CYP2W1, CYTH3, DAGLB, DNAAF5, EIF2AK1, EIF3B, ELFN1, FAM20C, FAM220A, FBXL18, FOXK1, FOXL3, FOXL3-OT1, FSCN1, GET4, GLCCI1, GLCCI1-DT, GNA12, GPER1, GPR146, GRID2IP, GRIFIN, ICA1, INTS1, INTS15, IQCE, KDELR2, LFNG, LINC02983, LINC03014, LINC03015, LINC03016, LINC03073, LNCRI, LOC100128653, LOC100129603, LOC100131472, LOC101929756, LOC105375113, LOC105375115, LOC105375131, LOC105375146, LOC105375148, LOC105375303, LOC106783574, LOC106799841, LOC106799845, LOC107986760, LOC108281146, LOC109623491, LOC110120649, LOC110120772, LOC110120773, LOC110121162, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113743972, LOC113743973, LOC113743974, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116435278, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121740675, LOC121740676, LOC121740677, LOC123924885, LOC123924886, LOC123924887, LOC123924888, LOC123924889, LOC123924890, LOC123924891, LOC123924892, LOC123924893, LOC123924894, LOC123924895, LOC123924896, LOC123924897, LOC123924898, LOC123924899, LOC123924900, LOC123924901, LOC126859916, LOC126859917, LOC126859918, LOC126859919, LOC126859920, LOC126859921, LOC126859922, LOC126859923, LOC126859924, LOC126859925, LOC126859926, LOC126859927, LOC126859928, LOC126859929, LOC126859930, LOC126859931, LOC126859932, LOC126859933, LOC126859934, LOC126859935, LOC126859936, LOC126859937, LOC126859938, LOC126859939, LOC126859940, LOC126859941, LOC129389726, LOC129389727, LOC129389728, LOC129389729, LOC129389730, LOC129389731, LOC129389732, LOC129389733, LOC129389734, LOC129389735, LOC129389736, LOC129389737, LOC129389738, LOC129389739, LOC129389740, LOC129389741, LOC129389742, LOC129389743, LOC129389744, LOC129389745, LOC129389746, LOC129389747, LOC129997718, LOC129997719, LOC129997720, LOC129997721, LOC129997722, LOC129997723, LOC129997724, LOC129997725, LOC129997726, LOC129997727, LOC129997728, LOC129997729, LOC129997730, LOC129997731, LOC129997732, LOC129997733, LOC129997734, LOC129997735, LOC129997736, LOC129997737, LOC129997738, LOC129997739, LOC129997740, LOC129997741, LOC129997742, LOC129997743, LOC129997744, LOC129997745, LOC129997746, LOC129997747, LOC129997748, LOC129997749, LOC129997750, LOC129997751, LOC129997752, LOC129997753, LOC129997754, LOC129997755, LOC129997756, LOC129997757, LOC129997758, LOC129997759, LOC129997760, LOC129997761, LOC129997762, LOC129997763, LOC129997764, LOC129997765, LOC129997766, LOC129997767, LOC129997768, LOC129997769, LOC129997770, LOC129997771, LOC129997772, LOC129997773, LOC129997774, LOC129997775, LOC129997776, LOC129997777, LOC129997778, LOC129997779, LOC129997780, LOC129997781, LOC129997782, LOC129997783, LOC129997784, LOC129997785, LOC129997786, LOC129997787, LOC129997788, LOC129997789, LOC129997790, LOC129997791, LOC129997792, LOC129997793, LOC129997794, LOC129997795, LOC129997796, LOC129997797, LOC129997798, LOC129997799, LOC129997800, LOC129997801, LOC129997802, LOC129997803, LOC129997804, LOC129997805, LOC129997806, LOC129997807, LOC129997808, LOC129997809, LOC129997810, LOC129997811, LOC129997812, LOC129997813, LOC129997814, LOC129997815, LOC129997816, LOC129997817, LOC129997818, LOC129997819, LOC129997820, LOC129997821, LOC129997822, LOC129997823, LOC129997824, LOC129997825, LOC129997826, LOC129997827, LOC129997828, LOC129997829, LOC129997830, LOC129997831, LOC129997832, LOC129997833, LOC129997834, LOC129997835, LOC129997836, LOC129997837, LOC129997838, LOC129997839, LOC129997840, LOC129997841, LOC129997842, LOC129997843, LOC129997844, LOC129997845, LOC129997846, LOC129997847, LOC129997848, LOC129997849, LOC129997850, LOC129997851, LOC129997852, LOC129997853, LOC129997854, LOC129997855, LOC129997856, LOC129997857, LOC129997858, LOC129997859, LOC129997860, LOC129997861, LOC129997862, LOC129997863, LOC129997864, LOC129997865, LOC129997866, LOC129997867, LOC129997868, LOC129997869, LOC129997870, LOC129997871, LOC129997872, LOC129997873, LOC129997874, LOC129997875, LOC129997876, LOC129997877, LOC129997878, LOC129997879, LOC129997880, LOC129997881, LOC129997882, LOC129997883, LOC129997884, LOC129997885, LOC129997886, LOC129997887, LOC129997888, LOC129997889, LOC129997890, LOC129997891, LOC129997892, LOC129997893, LOC129997894, LOC129997895, LOC129997896, LOC129997897, LOC129997898, LOC129997899, LOC129997900, LOC129997901, LOC129997902, LOC129997903, LOC129997904, LOC129997905, LOC129997906, LOC129997907, LOC129997908, LOC129997909, LOC129997910, LOC129997911, LOC129997912, LOC129997913, LOC129997914, LOC129997915, LOC129997916, LOC129997917, LOC129997918, LOC129997919, LOC129997920, LOC129997921, LOC129997922, LOC129997923, LOC129997924, LOC129997925, LOC129997926, LOC129997927, LOC129997928, LOC129997929, LOC129997930, LOC129997931, LOC129997932, LOC129997933, LOC129997934, LOC129997935, LOC129997936, LOC129997937, LOC129997938, LOC129997939, LOC129997940, LOC129997941, LOC129997942, LOC129997943, LOC129997944, LOC129997945, LOC129997946, LOC129997947, LOC129997948, LOC129997949, LOC129997950, LOC129997951, LOC129997952, LOC129997953, LOC129997954, LOC129997955, LOC129997956, LOC129997957, LOC129997958, LOC129997959, LOC129997960, LOC129997961, LOC129997962, LOC129997963, LOC129997964, LOC129997965, LOC129997966, LOC129997967, LOC129997968, LOC129997969, LOC129997970, LOC129997971, LOC129997972, LOC129997973, LOC129997974, LOC129997975, LOC129997976, LOC129997977, LOC129997978, LOC129997979, LOC129997980, LOC129997981, LOC129997982, LOC129997983, LOC129997984, LOC129997985, LOC129997986, LOC129997987, LOC129997988, LOC129997989, LOC129997990, LOC129997991, LOC129997992, LOC129997993, LOC129997994, LOC129997995, LOC129997996, LOC129997997, LOC132089504, LOC132089513, LOC132089522, LOC132090775, LOC132090776, LOC221946, LOC442497, MAD1L1, MAFK, MGC4859, MICALL2, MICALL2-DT, MIOS, MIOS-DT, MIR339, MIR3683, MIR4648, MIR4655, MIR4656, MIR589, MIR6836, MIR6874, MMD2, MRM2, NUDT1, NXPH1, OCM, PAPOLB, PDGFA, PDGFA-DT, PHF14, PMS2, PRKAR1B, PSMG3, RAC1, RADIL, RBAK, RBAK-RBAKDN, RBAKDN, RNF216, RNF216-IT1, RPA3, RSPH10B, RSPH10B2, SDK1, SLC29A4, SMIM10L3, SNORA114, SNORA80D, SNORD165, SNX8, SUN1, THSD7A, TMEM106B, TMEM184A, TNRC18, TTYH3, UMAD1, UNCX, USP42, WIPI2, ZDHHC4, ZFAND2A, ZFAND2A-DT, ZNF12, ZNF316, ZNF853 1 0 0 0 0 1
ACTL6A 0 0 0 1 0 1
ACTL8, ALDH4A1, ARHGEF10L, ATP13A2, CROCC, EMC1, IFFO2, IGSF21, KLHDC7A, LINC01654, LINC02783, LINC02810, LOC108175348, LOC108254694, LOC111828503, LOC120893114, LOC120893115, LOC120893116, LOC121677387, LOC122056775, LOC122056776, LOC122056777, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, LOC129388459, LOC129929537, LOC129929538, LOC129929539, LOC129929540, LOC129929541, LOC129929542, LOC129929543, LOC129929544, LOC129929545, LOC129929546, LOC129929547, LOC129929548, LOC129929549, LOC129929550, LOC129929551, LOC129929552, LOC129929553, LOC129929554, LOC129929555, LOC129929556, LOC129929557, LOC129929558, LOC129929559, LOC129929560, LOC129929561, LOC129929562, LOC129929563, LOC129929564, LOC129929565, LOC129929566, LOC129929567, MFAP2, MIR1290, MIR3972, MIR4695, PADI1, PADI2, PADI3, PADI4, PADI6, PAX7, RCC2, SDHB, TAS1R2, UBR4 1 0 0 0 0 1
ACTN2 1 0 0 0 0 1
ACTN2, EDARADD, HEATR1, LGALS8, LOC108004528, LOC110121264, LOC110121265, LOC110121266, LOC112577561, LOC122152346, LOC122152347, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, MT1HL1, MTR, RYR2 0 0 1 0 0 1
ACVR1 0 0 0 1 0 1
ADGRG1 0 0 0 0 1 1
AFF2 0 0 0 1 0 1
AFF4 0 0 0 1 0 1
AFG3L2 0 0 1 0 0 1
AGL, FRRS1, LOC122094884, LOC129931004, LOC129931005, LOC129931006, LOC129931007 0 0 1 0 0 1
AGPAT2 0 0 1 0 0 1
AIRE 1 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC121366027, LOC121811719, LOC124310648, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860767, LOC126860768, LOC126860769, LOC126860770, LOC126860771, LOC129390114, LOC130002621, LOC130002622, LOC130002623, LOC130002624, LOC130002625, LOC130002626, LOC130002627, LOC130002628, LOC130002629, LOC130002630, LOC130002631, LOC130002632, LOC130002633, LOC130002634, LOC130002635, LOC130002636, LOC130002637, LOC130002638, LOC130002639, LOC130002640, LOC130002641, LOC130002642, LOC130002643, LOC130002644, LOC130002645, LOC130002646, LOC130002647, LOC130002648, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, LOC132089665, LOC132089666, LRSAM1, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, ODF2, PIP5KL1, PTGES2, PTGES2-DT, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC27A4, SLC2A8, SNORA65, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1, ZBTB34, ZBTB43, ZNF79 1 0 0 0 0 1
AK3, BRD10, CD274, CDC37L1, CDC37L1-DT, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, GLDC, GLIS3, IL33, INCR1, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, LINC-ADAIN, LINC01231, LINC01235, LINC03131, LOC105375972, LOC105375976, LOC107522029, LOC107882132, LOC108281132, LOC110120591, LOC110120655, LOC110121072, LOC110121197, LOC111413010, LOC111465019, LOC113839544, LOC113839554, LOC114022704, LOC121331316, LOC121331317, LOC121331318, LOC121331319, LOC121740737, LOC121740738, LOC121740739, LOC121811698, LOC121811699, LOC124210605, LOC124210606, LOC124210607, LOC124210608, LOC124210609, LOC124210610, LOC124210611, LOC124210612, LOC124210613, LOC124210614, LOC124210615, LOC124210616, LOC124225047, LOC124225048, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC126860556, LOC126860557, LOC126860558, LOC126860559, LOC126860560, LOC126860561, LOC126860562, LOC126860563, LOC126860564, LOC126860565, LOC126860566, LOC126860567, LOC126860568, LOC126860569, LOC126860570, LOC126860571, LOC126860572, LOC126860573, LOC126860574, LOC126860575, LOC126860576, LOC126860577, LOC126860578, LOC126860579, LOC126860580, LOC128772329, LOC128772330, LOC128772331, LOC128772332, LOC128772333, LOC128781591, LOC129390062, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, LOC130001467, LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, LOC130001473, LOC130001474, LOC130001475, LOC130001476, LOC130001477, LOC130001478, LOC130001479, LOC130001480, LOC130001481, LOC130001482, LOC130001483, LOC130001484, LOC130001485, LOC130001486, LOC130001487, LOC130001488, LOC130001489, LOC130001490, LOC130001491, LOC130001492, LOC130001493, LOC130001494, LOC130001495, LOC130001496, LOC130001497, LOC130001498, LOC130001499, LOC130001500, LOC130001501, LOC130001502, LOC130001503, LOC130001504, LOC130001505, LOC130001506, LOC130001507, LOC130001508, LOC130001509, LOC130001510, LOC130001511, LOC130001512, LOC130001513, LOC130001514, LOC130001515, LOC130001516, LOC130001517, LOC130001518, LOC130001519, LOC130001520, LOC130001521, LOC130001522, LOC130001523, LOC130001524, LOC130001525, LOC130001526, LOC130001527, LOC130001528, LOC130001529, LOC130001530, LOC130001531, LOC130001532, LOC130001533, LOC130001534, LOC130001535, LOC130001536, LOC130001537, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545, LOC130001546, LOC130001547, LOC130001548, LOC130001549, LOC130001550, LOC130001551, LOC130001552, LOC130001553, LOC130001554, LOC130001555, LOC130001556, LOC130001557, LOC130001558, LURAP1L, MAHAC, MIR101-2, MIR4665, MLANA, MPDZ, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PTPRD-DT, PUM3, RANBP6, RCL1, RFX3, RFX3-DT, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SNORD137, SPATA6L, TPD52L3, TYRP1, UHRF2, VLDLR 1 0 0 0 0 1
AKT3 0 0 1 0 0 1
ALX4 0 0 1 0 0 1
AMH 0 0 1 0 0 1
AMZ1, BRAT1, CHST12, EIF3B, GRIFIN, IQCE, LFNG, LOC106799845, LOC107986760, LOC116183079, LOC121144501, LOC123924891, LOC123924892, LOC126859928, LOC129997810, LOC129997811, LOC129997812, LOC129997813, LOC129997814, LOC129997815, LOC129997816, LOC129997817, LOC129997818, LOC129997819, LOC129997820, LOC129997821, LOC129997822, LOC129997823, LOC129997824, LOC129997825, LOC129997826, LOC129997827, LOC129997828, LOC129997829, LOC129997830, LOC129997831, LOC129997832, LOC129997833, MIR4648, SNX8, TTYH3 0 0 1 0 0 1
ANAPC1 0 0 1 0 0 1
ANKRD11, TRAPPC2L 0 0 0 0 1 1
AP1S2 0 0 1 0 0 1
AP2S1 0 1 0 0 0 1
AP3B1 0 0 0 0 1 1
AP4E1 0 0 1 0 0 1
AP4M1, TAF6 0 0 1 0 0 1
APOA5 0 0 1 0 0 1
APTX 1 0 0 0 0 1
AQP12A, AQP12B, KIF1A, LOC126806583, LOC285191 0 0 1 0 0 1
ARFGEF1-DT, CPA6 0 0 0 0 1 1
ARHGEF6 0 0 0 0 1 1
ARHGEF9 0 0 1 0 0 1
ARID2 0 0 0 1 0 1
ARL17B, KANSL1, LOC126862577, LOC129390878, LRRC37A 0 0 0 0 1 1
ARL6 0 1 0 0 0 1
ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM246C, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, LINC00895, LINC00896, LINC01311, LINC02891, LOC108510655, LOC110120888, LOC112694764, LOC112694766, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC132090627, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR6816, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPT5-GP1BB, SEPTIN5, SLC25A1, SNORA77B, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 1
ARX 0 0 1 0 0 1
ATL1 0 0 1 0 0 1
ATN1 0 0 1 0 0 1
ATP1A1 0 0 1 0 0 1
ATP6AP1 0 0 0 1 0 1
ATP6V1A 0 0 0 0 1 1
ATP6V1B2 0 0 0 0 1 1
ATP7A 0 0 0 1 0 1
ATXN3L, EGFL6, GS1-600G8.3, LINC01203, LOC107985657, LOC126863211, LOC126863212, LOC130067967, LOC130067968, LOC130067969, LOC130067970, LOC130067971, LOC130067972, LOC130067973, LOC130067974, MIR6086, OFD1, RAB9A, TCEANC, TRAPPC2 0 0 0 1 0 1
ATXN7L3, UBTF 0 0 0 1 0 1
B3GALT5, BRWD1, DSCAM, DSCR10, DSCR4, DSCR8, ERG, ETS2, GET1, GET1-SH3BGR, HMGN1, IGSF5, KCNJ15, KCNJ6, LCA5L, LINC00114, LINC01423, LINC01700, LINC02940, LINC02943, LOC101928398, LOC107548109, LOC107548111, LOC108281150, LOC110121385, LOC111099028, LOC111188161, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC121627923, LOC125418075, LOC126653363, LOC126653364, LOC126653365, LOC126653366, LOC126653367, LOC126653368, LOC126653369, LOC126653370, LOC126653371, LOC126653372, LOC126653373, LOC126653374, LOC126653375, LOC126653376, LOC126653377, LOC129391247, LOC130066662, LOC130066663, LOC130066664, LOC130066665, LOC130066666, LOC130066667, LOC130066668, LOC130066669, LOC130066670, LOC130066671, LOC130066672, LOC130066673, LOC130066674, LOC130066675, LOC130066676, LOC130066677, LOC130066678, LOC130066679, LOC130066680, LOC130066681, LOC130066682, LOC130066683, LOC130066684, LOC130066685, LOC130066686, LOC130066687, LOC130066688, LOC130066689, LOC132090617, MIR4760, MIR6508, PCP4, PSMG1, SH3BGR 0 0 1 0 0 1
BACH2 0 0 1 0 0 1
BBS4 0 0 1 0 0 1
BCL11B 0 0 1 0 0 1
BEST1 1 0 0 0 0 1
BICD2 1 0 0 0 0 1
BMPR1A 0 0 1 0 0 1
BRAF 0 0 1 0 0 1
BRAF, LOC126860202 0 0 1 0 0 1
BTD, COLQ, EAF1, HACL1, MIR4270 1 0 0 0 0 1
C17orf107, CHRNE 0 0 0 1 0 1
C1QTNF9, C1QTNF9B, LINC00327, LINC00362, LINC00566, LOC106783494, LOC112163649, LOC121466729, LOC124849295, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC130009370, LOC130009371, LOC130009372, LOC130009373, LOC130009374, LOC130009375, LOC130009376, LOC130009377, LOC130009378, LOC130009379, LOC130009380, LOC130009381, LOC130009382, LOC130009383, LOC130009384, LOC130009385, LOC130009386, LOC130009387, LOC130009388, LOC130009389, LOC130009390, LOC130009391, LOC130009392, LOC130009393, LOC130009394, LOC130009395, LOC130009396, LOC132090177, LOC132090178, LOC132090179, LOC132090180, LOC132090181, LOC132090182, MIPEP, MIR2276, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 0 1 0 1
CABP4 1 0 0 0 0 1
CACNA1F 1 0 0 0 0 1
CACNA1S 0 0 1 0 0 1
CAMTA1, LOC126805603 0 0 1 0 0 1
CAPN3 1 0 0 0 0 1
CAPN5 0 0 1 0 0 1
CARMIL2 0 1 0 0 0 1
CASK 0 1 0 0 0 1
CASK, GPR82 1 0 0 0 0 1
CATIP, PNKD 0 0 1 0 0 1
CCDC39 1 0 0 0 0 1
CCDC50 0 0 0 0 1 1
CCDC81, EED, FZD4, FZD4-DT, HIKESHI, LOC112136093, LOC121392933, LOC121832818, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC126861285, LOC126861286, LOC129390320, LOC129390321, LOC129390322, LOC129390323, LOC130006560, LOC130006561, LOC130006562, LOC130006563, LOC132089943, LOC132089944, ME3, ME3-DT, MIR6755, PRSS23 0 0 1 0 0 1
CDAN1 0 0 0 1 0 1
CDC42 0 1 0 0 0 1
CDH15 0 0 0 1 0 1
CDK13, LOC129998294 0 0 1 0 0 1
CDKN1B 0 0 1 0 0 1
CERT1, HMGCR, LOC126807423, LOC129994073 0 0 1 0 0 1
CFI 0 0 1 0 0 1
CHD3 0 0 1 0 0 1
CHMP2B 0 0 1 0 0 1
CHRDL1 0 1 0 0 0 1
CHRNA2 0 0 1 0 0 1
CNTNAP2 0 0 0 1 0 1
COG1, LOC126862634 0 0 0 1 0 1
COG5 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
COL12A1 0 0 1 0 0 1
COL12A1, LOC126859712 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COL9A1 0 0 0 1 0 1
COL9A3 0 0 1 0 0 1
COQ4 0 0 1 0 0 1
CPE 1 0 0 0 0 1
CRB1 1 0 0 0 0 1
CSNK2A1 0 1 0 0 0 1
CSNK2B 0 0 1 0 0 1
CTCF 0 0 1 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 0 0 1 0 0 1
CTSA 1 0 0 0 0 1
CUL4B 1 0 0 0 0 1
CXCR3, GCNA, GJB1, ITGB1BP2, LOC113875038, LOC125467762, LOC125467763, LOC126863276, LOC126863277, LOC130068409, LOC130068410, LOC130068411, LOC130068412, LOC130068413, LOC130068414, LOC130068415, LOC130068416, LOC130068417, LOC130068418, LOC130068419, LOC130068420, LOC130068421, LOC130068422, LOC130068423, NLGN3, NONO, OGT, TAF1, ZMYM3 0 0 1 0 0 1
CYP2R1, PDE3B 1 0 0 0 0 1
DCTN1 0 0 0 1 0 1
DCTN5, PALB2 1 0 0 0 0 1
DES 0 1 0 0 0 1
DGCR6, FAM230F, HSERVPRODH, LOC122455341, PRODH 0 0 0 0 1 1
DICER1 0 0 1 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DIPK2B, KDM6A 0 0 1 0 0 1
DMD, MIR3915, MIR548F5 1 0 0 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 0 1
DNAAF5 1 0 0 0 0 1
DNAAF5, LOC129997731, PRKAR1B 0 0 1 0 0 1
DNAH5, LOC107457585 1 0 0 0 0 1
DNM1L 0 0 0 1 0 1
DNM1L, FGD4, LOC126861496, LOC130007663 0 0 1 0 0 1
DOC2B, LIAT1, LINC02091, LOC105371430, LOC112529901, LOC121848002, LOC125177398, LOC125177399, LOC125177400, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC130059857, LOC130059858, LOC130059859, LOC130059860, LOC130059861, LOC130059862, LOC130059863, LOC130059864, LOC132090892, RFLNB, RPH3AL, TLCD3A, VPS53 0 0 0 1 0 1
DSG1 1 0 0 0 0 1
DSP 0 1 0 0 0 1
DUOXA2 0 0 1 0 0 1
DVL1 0 0 0 0 1 1
EIF2B5 1 0 0 0 0 1
EIF2S3 0 0 0 1 0 1
EIF3F 0 1 0 0 0 1
EPHB4 0 0 1 0 0 1
EPM2A 0 0 1 0 0 1
ERCC2, KLC3, LOC125371530, LOC130064685, LOC130064686, LOC130064687, PPP1R13L 0 0 1 0 0 1
ERCC4 0 0 1 0 0 1
ERF 0 0 1 0 0 1
ERLIN1 1 0 0 0 0 1
ESR1, SYNE1 0 1 0 0 0 1
EXT1 0 0 0 0 1 1
EYA1 0 1 0 0 0 1
EYS, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132090758, LOC132090759, LOC132205963, LOC132205964 0 0 1 0 0 1
EZH2 0 0 1 0 0 1
FA2H 1 0 0 0 0 1
FAM111B 0 0 1 0 0 1
FAM20C, FOXL3, FOXL3-OT1, LINC03014, LINC03015, LOC101929756, LOC105375113, LOC105375115, LOC113687202, LOC129389726, LOC129997718, LOC129997719, LOC442497 0 0 1 0 0 1
FAM78A, LOC124375234, LOC124375235, LOC126860778, LOC126860779, LOC130002827, LOC130002828, LOC130002829, LOC130002830, LOC130002831, LOC130002832, LOC130002833, LOC130002834, LOC130002835, LOC130002836, LOC130002837, LOC130002838, LOC130002839, LOC130002840, LOC130002841, LOC130002842, LOC130002843, PLPP7, POMT1, PRRC2B, PRRT1B, SNORD62A, SNORD62B, UCK1 0 0 0 1 0 1
FAN1 1 0 0 0 0 1
FANCB 0 0 0 1 0 1
FANCE, LOC129996245 0 0 1 0 0 1
FARS2, LOC121099722, LOC129995674, LOC129995675, LOC129995676, LOC129995677 0 0 1 0 0 1
FBN1, LOC113939944 0 0 1 0 0 1
FBN2 0 0 0 0 1 1
FBXO11 0 0 1 0 0 1
FBXO11, MSH6 0 0 0 0 1 1
FGFR1 0 0 1 0 0 1
FLCN 1 0 0 0 0 1
FOXE1 0 0 1 0 0 1
FOXP2 1 0 0 0 0 1
FRRS1L 0 0 1 0 0 1
GABRA1 0 0 1 0 0 1
GABRA2 0 1 0 0 0 1
GABRA5 0 0 1 0 0 1
GABRB2 0 0 1 0 0 1
GABRB3 0 0 0 1 0 1
GALC, LOC132090288 1 0 0 0 0 1
GALNT11, KMT2C, LINC01003, LOC123956272, LOC123956273, LOC126860227, LOC129389938, LOC129999675, LOC129999676, LOC129999677, LOC129999678, LOC129999679, LOC129999680, LOC129999681, LOC129999682, LOC129999683, LOC129999684 0 0 1 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GATA3 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
GBA1 1 0 0 0 0 1
GFAP 0 0 0 1 0 1
GFER, LOC116268480, LOC125146375, LOC125146377, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598 0 0 1 0 0 1
GHRHR 1 0 0 0 0 1
GJA1 0 0 1 0 0 1
GJC2 0 0 1 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 1
GLIS3 0 0 1 0 0 1
GMPPB 0 1 0 0 0 1
GNAI1 0 0 1 0 0 1
GNRH1 0 0 1 0 0 1
GNRHR 0 1 0 0 0 1
GOLGA6L2, GOLGA6L26, GOLGA8S, LOC126862075, LOC130056719, MAGEL2, MIR4508, MKRN3, NDN, PWRN2, PWRN4 1 0 0 0 0 1
GPC3 0 0 0 0 1 1
GPHN 0 0 0 1 0 1
GRIA3 0 0 1 0 0 1
GRIA4 0 0 1 0 0 1
GRIN2B, LOC126861462, LOC132090065 0 0 1 0 0 1
GRM1 0 0 1 0 0 1
GUCY2D 0 0 1 0 0 1
HACE1 1 0 0 0 0 1
HAO1, LINC01428, LINC01706, LINC01751, LOC108178991, LOC108178992, LOC111365189, LOC112694729, LOC125384574, LOC125384575, LOC126862966, LOC126862967, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, MIR8062, PLCB1, PLCB1-IT1, TMX4 0 0 1 0 0 1
HBA-LCR, NPRL3 0 0 1 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 0 1
HCN1 0 0 1 0 0 1
HDAC8 1 0 0 0 0 1
HEPACAM 0 0 1 0 0 1
HEXA 0 0 0 0 1 1
HMBS 0 0 1 0 0 1
HNF1B 0 0 1 0 0 1
HNRNPK 0 0 1 0 0 1
HOXA13, LOC107126288 0 0 0 0 1 1
HRAS, LRRC56 0 0 0 1 0 1
HSALR1, PIEZO1 0 1 0 0 0 1
HSPD1 0 0 1 0 0 1
HSPG2, LOC126805655 0 0 0 1 0 1
HUWE1, LOC126863263 0 0 1 0 0 1
IFT140 0 0 1 0 0 1
IFT140, LOC105371046 0 0 1 0 0 1
IFT172 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IGSF1 1 0 0 0 0 1
IGSF6, LOC101927814, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC132090371, LOC132090372, METTL9, MIR3680-1, OTOA 0 0 1 0 0 1
IL17RD, LOC126806689 0 0 1 0 0 1
IMPG2 1 0 0 0 0 1
INF2 0 0 1 0 0 1
INSR 0 0 1 0 0 1
ITM2B 0 0 1 0 0 1
IVD 0 0 1 0 0 1
JAG1 0 0 1 0 0 1
KCNC1 0 0 1 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 1
KCNJ11 0 0 1 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 0 1
KDM6B 0 1 0 0 0 1
KIT 0 0 1 0 0 1
KLB 0 0 0 1 0 1
KMT2B 0 0 1 0 0 1
KYNU 0 0 0 0 1 1
LARGE, LARGE1 0 0 1 0 0 1
LARP7 0 1 0 0 0 1
LDLR, MIR6886 1 0 0 0 0 1
LEMD3 0 0 1 0 0 1
LEP 0 0 0 0 1 1
LHB 0 0 1 0 0 1
LHX3 0 0 1 0 0 1
LINC00964, LOC105375742, LOC105375743, LOC111365183, LOC121740730, LOC126860497, LOC126860498, LOC126860499, LOC130001087, LOC130001088, LOC130001089, LOC130001090, LOC130001091, LOC130001092, LOC130001093, LOC130001094, LOC130001095, LOC130001096, LOC130001097, LOC130001098, LOC130001099, LOC130001100, LOC130001101, MIR4662A, MIR4662B, MTSS1, NSMCE2, SQLE, SQLE-DT, WASHC5, ZNF572 0 0 1 0 0 1
LITAF 0 0 0 1 0 1
LMBR1 0 0 1 0 0 1
LMBR1, LOC129999727 0 0 1 0 0 1
LOC101927055, TTN 0 0 0 1 0 1
LOC107548112, REN 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 1
LOC110806263, TERT 0 0 0 1 0 1
LOC112533672, UNC13D 0 0 0 1 0 1
LOC121832794, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, PACS1, SF3B2 0 0 1 0 0 1
LOC124625920, PDE3A 0 0 0 1 0 1
LOC126806264, POLR1A 0 0 1 0 0 1
LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 0 1
LOC126806421, TTN 0 0 0 1 0 1
LOC126806424, TTN 0 0 1 0 0 1
LOC126806425, TTN 0 0 0 0 1 1
LOC126806432, TTN 0 0 0 0 1 1
LOC126806462, SATB2 1 0 0 0 0 1
LOC126806630, THRB 1 0 0 0 0 1
LOC126806878, TBL1XR1 0 0 1 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 1
LOC126861898, MYH7 1 0 0 0 0 1
LOC126862493, MYH8, MYHAS 0 0 1 0 0 1
LOC126863160, NAGA 0 0 1 0 0 1
LOC129931382, SF3B4 0 0 1 0 0 1
LOC129933884, LOC129933885, LOC129933886, MDH1, WDPCP 0 0 1 0 0 1
LOC129934333, TMEM127 1 0 0 0 0 1
LOC129936665, SETD2 0 0 0 0 1 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 1
LOC130009266, POLE 0 0 1 0 0 1
LOC130065472, SEC23B 0 0 1 0 0 1
LOC130068621, NDUFA1 0 0 0 0 1 1
LOC130068746, SLC9A6 0 0 0 0 1 1
LOX, SRFBP1 0 0 1 0 0 1
LTBP3 0 0 0 0 1 1
MAFB 0 0 1 0 0 1
MAP2K1 0 0 1 0 0 1
MAPT 1 0 0 0 0 1
MECOM 0 1 0 0 0 1
MEF2C 1 0 0 0 0 1
MEFV 0 0 1 0 0 1
MEIS2 1 0 0 0 0 1
MFSD8 1 0 0 0 0 1
MILR1, POLG2 0 0 0 1 0 1
MITF 0 1 0 0 0 1
MKS1 0 0 0 1 0 1
MME 0 1 0 0 0 1
MMP13 0 0 0 1 0 1
MMP2 0 0 1 0 0 1
MMP21 1 0 0 0 0 1
MOCS1 0 0 1 0 0 1
MSL3 0 0 0 1 0 1
MT-ATP6 0 0 1 0 0 1
MT-CO3 0 0 1 0 0 1
MT-ND1 0 0 1 0 0 1
MT-ND2 0 0 1 0 0 1
MT-ND3 0 0 1 0 0 1
MT-ND4 0 0 0 1 0 1
MT-ND6 0 0 1 0 0 1
MTO1 0 0 1 0 0 1
MTRR 0 0 0 1 0 1
MUC1 0 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYBPC1 0 0 1 0 0 1
MYCN 0 0 1 0 0 1
MYCN, MYCNOS 0 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 0 1
MYH3 0 0 1 0 0 1
MYH9 0 0 1 0 0 1
MYO6 0 0 0 1 0 1
MYOT, PKD2L2-DT 1 0 0 0 0 1
NAA10 0 0 0 1 0 1
NBN 0 0 1 0 0 1
NDUFB11 0 0 1 0 0 1
NF2 0 0 1 0 0 1
NFIA 0 1 0 0 0 1
NFIX 0 1 0 0 0 1
NLRC4 0 0 1 0 0 1
NLRP3 0 0 1 0 0 1
NONO 0 0 0 1 0 1
NOTCH1 0 0 0 1 0 1
NOTCH2 0 0 1 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 0 1
NR0B1 0 1 0 0 0 1
NR2F1 0 0 1 0 0 1
NRXN1 0 0 1 0 0 1
NRXN1, NRXN1-DT 0 1 0 0 0 1
NRXN2 0 0 0 1 0 1
NTHL1 0 0 1 0 0 1
NTRK1 0 0 0 0 1 1
NUBPL 0 0 1 0 0 1
OBSL1 1 0 0 0 0 1
OCA2 0 0 1 0 0 1
ODAD1 1 0 0 0 0 1
ODC1 0 0 0 0 1 1
OPHN1 0 0 0 1 0 1
P4HB 0 0 1 0 0 1
PAPSS2 1 0 0 0 0 1
PCCB 0 0 1 0 0 1
PCGF2 1 0 0 0 0 1
PDE10A 0 0 1 0 0 1
PDE3A 0 0 0 1 0 1
PDE4D 0 0 0 0 1 1
PDHA1 0 0 1 0 0 1
PGAP2 0 1 0 0 0 1
PHF8 0 0 0 0 1 1
PHKA1 0 0 1 0 0 1
PIGL 1 0 0 0 0 1
PIK3R1 0 0 0 0 1 1
PIK3R2 0 0 0 1 0 1
PITX2 0 0 0 0 1 1
PKD1, TSC2 0 0 1 0 0 1
PLA2G6 0 1 0 0 0 1
PLEKHG5 0 0 1 0 0 1
PLS1 0 1 0 0 0 1
PLXNA3 0 0 1 0 0 1
POLE 0 0 1 0 0 1
PORCN 0 0 0 1 0 1
POU3F3 0 0 0 0 1 1
POU3F4 0 0 1 0 0 1
POU4F3, RBM27-POU4F3 0 0 1 0 0 1
PPP2R1A 0 0 1 0 0 1
PRAF2 0 0 1 0 0 1
PREPL, SLC3A1 0 0 1 0 0 1
PRKCG 0 1 0 0 0 1
PRKCSH 0 0 1 0 0 1
PRKD1 0 0 0 1 0 1
PRKG1 0 0 0 1 0 1
PRPF31 1 0 0 0 0 1
PSEN1 1 0 0 0 0 1
PTEN 0 0 1 0 0 1
PYGM 1 0 0 0 0 1
RARB 0 0 0 1 0 1
RAX2 0 0 1 0 0 1
RBM10 0 0 1 0 0 1
RBM20 1 0 0 0 0 1
REEP1 1 0 0 0 0 1
RLIM 0 0 0 1 0 1
RNF125 0 0 1 0 0 1
RNF43 0 1 0 0 0 1
RORA 0 0 1 0 0 1
RP1 1 0 0 0 0 1
RPL10 0 0 0 1 0 1
RYR2 0 0 1 0 0 1
SATB2 0 0 1 0 0 1
SCN11A 0 0 0 1 0 1
SCN1A, SCN9A 0 0 0 0 1 1
SCN5A 0 0 1 0 0 1
SDCCAG8 0 0 1 0 0 1
SDHC 0 1 0 0 0 1
SEC23B 0 0 1 0 0 1
SELENON 1 0 0 0 0 1
SEMA4A 0 0 0 0 1 1
SEPTIN9 0 0 0 1 0 1
SF3B4 0 0 1 0 0 1
SGCA 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SIN3A 0 1 0 0 0 1
SIX3 0 0 1 0 0 1
SLC12A5 0 0 1 0 0 1
SLC13A5 0 1 0 0 0 1
SLC16A2 0 0 0 1 0 1
SLC1A3 0 0 1 0 0 1
SLC25A46 0 1 0 0 0 1
SLC26A7 0 0 1 0 0 1
SLC35A2 0 0 1 0 0 1
SLC35C1 0 0 0 1 0 1
SLC6A1 0 0 1 0 0 1
SLC6A19 0 0 0 1 0 1
SLC9A6 0 0 0 1 0 1
SMAD3 0 0 1 0 0 1
SMARCB1 0 0 1 0 0 1
SMARCC2 0 1 0 0 0 1
SMO 0 0 1 0 0 1
SMS 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 1
SOS2 0 0 0 1 0 1
SOX11 0 0 0 1 0 1
SOX3 0 0 0 1 0 1
SOX5 0 0 0 1 0 1
SOX6 1 0 0 0 0 1
SOX9 0 0 0 0 1 1
SPAST 0 0 1 0 0 1
SPEG 0 0 1 0 0 1
SPRED1 1 0 0 0 0 1
SPTLC2 0 0 1 0 0 1
SRD5A3 0 0 1 0 0 1
SRPX2 0 0 0 1 0 1
STAG1 0 0 1 0 0 1
STAG2 0 0 0 1 0 1
SYNJ1 1 0 0 0 0 1
SYP 0 0 0 0 1 1
TAC3 1 0 0 0 0 1
TAF6 0 0 1 0 0 1
TARDBP 0 0 1 0 0 1
TBX18 0 0 1 0 0 1
TBXAS1 0 0 0 1 0 1
TCF12 0 0 0 0 1 1
TGFB2 0 0 0 0 1 1
TGFBR2 0 0 0 1 0 1
THAP1 0 0 1 0 0 1
TLK2 0 0 1 0 0 1
TMEM240 0 0 0 1 0 1
TMPRSS3 1 0 0 0 0 1
TNFRSF11A 0 0 1 0 0 1
TOR1A 0 0 1 0 0 1
TP53 0 1 0 0 0 1
TP63 1 0 0 0 0 1
TPM1 0 0 1 0 0 1
TRHR 0 0 1 0 0 1
TRMT5 0 0 1 0 0 1
TRPM3 1 0 0 0 0 1
TTBK2 0 0 1 0 0 1
TUBB3 0 1 0 0 0 1
TUBGCP6 0 0 1 0 0 1
UBAP1 1 0 0 0 0 1
UBE2A 0 1 0 0 0 1
UNC13D 0 0 0 1 0 1
VCAN 1 0 0 0 0 1
VCP 0 0 1 0 0 1
VDR 0 0 1 0 0 1
VEGFC 0 0 1 0 0 1
WDR11 0 0 1 0 0 1
WDR37 0 0 0 1 0 1
WDR45 0 0 0 1 0 1
WNT10A 1 0 0 0 0 1
YY1 0 1 0 0 0 1
ZBTB18 1 0 0 0 0 1
ZBTB20 0 0 1 0 0 1
ZC4H2 0 0 0 1 0 1
ZFYVE26 1 0 0 0 0 1
ZMIZ1 1 0 0 0 0 1
ZMYND11 0 0 1 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 153
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Intellectual disability 102 69 426 202 99 898
Familial hypercholesterolemia 101 55 125 10 5 296
Early onset severe obesity 19 25 59 13 9 125
Inherited breast cancer and ovarian cancer 68 6 14 7 12 107
Hereditary ataxia 5 10 47 11 7 80
Limb-girdle muscular dystrophy 3 5 38 25 6 77
Tuberous sclerosis syndrome 38 5 8 2 0 53
Congenital hypothyroidism 14 5 28 3 0 50
Hearing impairment 18 5 19 2 3 47
Inherited ovarian cancer (without breast cancer) 28 2 4 6 4 44
Epilepsy 7 4 17 8 6 42
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 2 16 21 2 0 41
Renal cyst 15 3 18 2 0 38
Hypophosphataemia or rickets 17 9 10 0 0 36
Cone-rod dystrophy 5 3 17 4 5 34
Genetic developmental and epileptic encephalopathy 4 4 13 11 2 34
Inherited MMR deficiency (Lynch syndrome) 26 2 4 2 0 34
Stickler syndrome 27 6 1 0 0 34
Congenital heart disease 2 4 12 10 5 33
Congenital myopathy 8 1 11 8 5 33
Cleft palate 0 1 22 6 2 31
Dystonia, early-onset, and/or spastic paraplegia 0 0 14 8 6 28
Skeletal dysplasia 3 1 11 8 3 26
Familial thoracic aortic aneurysm and aortic dissection 1 1 18 4 1 25
Distal myopathy 2 1 20 1 0 24
Hypertrophic cardiomyopathy 4 1 12 6 0 23
Multiple congenital anomalies/dysmorphic syndrome 0 0 11 7 4 22
Kidney failure 3 2 14 2 0 21
Biliary tract abnormality 8 5 7 0 0 20
Inherited polyposis and early onset colorectal cancer - germline testing 8 3 7 0 2 20
Obesity 0 0 12 6 2 20
Primary ciliary dyskinesia 20 0 0 0 0 20
Craniosynostosis syndrome 2 1 6 7 3 19
Congenital anomaly of kidney and urinary tract 0 2 10 5 1 18
Congenital cerebellar hypoplasia 1 2 9 2 2 16
Vascular disorder 1 0 5 3 7 16
Charcot-Marie-Tooth disease 1 5 5 2 2 15
Hyperthyroidism 8 6 0 1 0 15
Hereditary skeletal muscle disorder 2 0 4 6 2 14
Hereditary spastic paraplegia 7 0 4 3 0 14
Primary dilated cardiomyopathy 1 1 11 0 1 14
Cancer or benign tumor 2 0 10 1 0 13
Arthrogryposis syndrome 1 2 9 0 0 12
Cleft lip/palate 4 1 5 0 2 12
Inherited prostate cancer 4 3 2 0 3 12
Lipodystrophy - childhood onset 4 1 7 0 0 12
Lymphedema 0 0 4 5 3 12
Neurofibromatosis, type 1 1 1 4 3 3 12
Osteogenesis imperfecta 5 2 5 0 0 12
VATER association 0 0 5 4 3 12
Autosomal recessive congenital ichthyosis 4 3 4 0 0 11
Ehlers-Danlos syndrome 2 1 5 2 1 11
Hypogonadotropic hypogonadism 1 1 8 1 0 11
Benign familial hematuria 1 2 6 0 0 9
Congenital ocular coloboma 0 0 7 2 0 9
Growth failure in early childhood 0 0 8 1 0 9
Hereditary neuropathy or pain disorder 2 1 6 0 0 9
Inherited phaeochromocytoma and paraganglioma excluding NF1 7 2 0 0 0 9
Left ventricular noncompaction 1 0 3 2 3 9
Mitochondrial disease 6 0 2 0 1 9
Pulmonary fibrosis 1 1 7 0 0 9
Adult onset neurodegenerative disorder 5 1 2 0 0 8
Childhood neoplasm 1 0 6 0 1 8
Paroxysmal central nervous system disorders 2 0 4 2 0 8
Severe early-childhood-onset retinal dystrophy 4 0 2 1 0 7
Autosomal recessive disease 1 0 4 0 1 6
Kidney disorder 0 2 4 0 0 6
Monogenic short stature 2 0 3 1 0 6
Noonan syndrome 4 0 2 0 0 6
Pituitary hormone deficiency 4 2 0 0 0 6
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis 2 2 1 0 0 5
Disorder of development or morphogenesis 0 2 3 0 0 5
Familial hypoparathyroidism 3 1 1 0 0 5
Hereditary breast ovarian cancer syndrome 1 2 2 0 0 5
Metabolic disease 3 1 1 0 0 5
Microcephaly 1 1 3 0 0 5
Proteinuria 0 2 2 0 1 5
Young-onset Parkinson disease 2 0 3 0 0 5
Autosomal dominant nonsyndromic hearing loss 0 1 2 1 0 4
Bardet-Biedl syndrome 3 1 0 0 0 4
Cerebral arterial disease 0 2 2 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 4 0 0 0 0 4
Congenital anemia 2 0 1 1 0 4
Conotruncal heart malformations 0 1 2 0 1 4
Dementia 1 0 2 1 0 4
Ear malformation 0 2 2 0 0 4
Hypoparathyroidism 1 1 2 0 0 4
Joubert syndrome 1 0 2 1 0 4
Leukodystrophy, Adult-Onset 3 1 0 0 0 4
Neoplasm of the endocrine system 1 0 2 1 0 4
Parkinsonian disorder 0 0 3 1 0 4
Russell-Silver syndrome 0 0 2 1 1 4
Beckwith-Wiedemann syndrome 0 0 3 0 0 3
Cataract 0 0 2 1 0 3
Differences in sex development 0 1 2 0 0 3
Hereditary skin disorder 0 1 2 0 0 3
Multiple endocrine neoplasia, type 2 1 0 2 0 0 3
Type 2 diabetes mellitus 0 0 1 2 0 3
APC associated polyposis 1 0 0 1 0 2
Brain disorder 0 2 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 0 0 2 0 0 2
Coffin-Siris syndrome 0 0 2 0 0 2
Congenital chromosomal disease 0 0 2 0 0 2
Congenital muscular dystrophy 1 1 0 0 0 2
Developmental defect during embryogenesis 1 0 1 0 0 2
Disorder of sexual differentiation 2 0 0 0 0 2
Ectodermal dysplasia 2 0 0 0 0 2
Hereditary macular dystrophy 0 0 2 0 0 2
Hereditary optic neuropathy 0 0 2 0 0 2
Intestinal polyposis syndrome 0 0 2 0 0 2
Isolated anophthalmia-microphthalmia syndrome 2 0 0 0 0 2
Kabuki syndrome 0 2 0 0 0 2
Leukodystrophy 2 0 0 0 0 2
Long QT syndrome 1 1 0 0 0 2
Malignant neoplasm of nervous system 0 0 2 0 0 2
Morphological central nervous system abnormality 0 1 0 1 0 2
Multiple epiphyseal dysplasia 1 0 1 0 0 2
Neuroendocrine neoplasm 0 0 2 0 0 2
Neuromuscular disease 0 0 0 2 0 2
Renal tubular acidosis 0 2 0 0 0 2
Schizophrenia 0 0 2 0 0 2
See cases 0 0 2 0 0 2
Weaver syndrome 0 0 1 1 0 2
Agammaglobulinemia 0 0 1 0 0 1
Amyotrophic lateral sclerosis 0 0 0 1 0 1
Anemia 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Atopic eczema 0 0 1 0 0 1
Blepharospasm-oromandibular dystonia syndrome 0 0 1 0 0 1
Combined immunodeficiency 0 0 0 0 1 1
Congenital limb malformation 0 0 1 0 0 1
Corneal disorder 0 1 0 0 0 1
Cystic fibrosis 1 0 0 0 0 1
Cystic fibrosis diagnostic test 0 0 1 0 0 1
Disorder of eye 1 0 0 0 0 1
Duchenne or Becker muscular dystrophy 0 0 0 1 0 1
Endocrine pancreas disorder 0 0 1 0 0 1
Epidermal disease 1 0 0 0 0 1
Focal epilepsy 0 0 1 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 1
Hyperthyroidism, Congenital hypothyroidism 0 0 0 1 0 1
Hyperthyroxinemia, dystransthyretinemic 0 1 0 0 0 1
Lynch syndrome 4 1 0 0 0 0 1
Macular degeneration 0 0 1 0 0 1
NICE approved PARP inhibitor treatment 1 0 0 0 0 1
Neurocutaneous syndrome 0 1 0 0 0 1
Pancytopenia 0 1 0 0 0 1
Periodic fever syndrome 0 0 1 0 0 1
Primary membranoproliferative glomerulonephritis 0 0 0 0 1 1
Rhombencephalosynapsis 0 0 0 0 1 1
Severe early-onset obesity, Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis 0 0 1 0 0 1
Skeletal myopathy 0 0 1 0 0 1
Sotos syndrome 0 0 1 0 0 1

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