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Genes:
AC005609.1, AC010536.1, AC012123.1, AC017104.2, AC020922.1, AC062017.1, AC074389.6, AC096644.1, AC110781.3, ADH1C, AKR7L, ALDH3B1, ALDH4A1, ALG9, AMPD1, ANKRD36, ANKRD36C, ANXA9, AOAH, AOC3, APOBEC3A, APOBEC3B, APOBEC3G, APOL4, AQP12B, ARSB, ATG9B, ATP6V1B1, B3GNT6, BARD1, C10orf113, C11orf40, C17orf100, C1orf210, C21orf49, C22orf34, C2orf83, C5orf20, C5orf38, C5orf45, C8orf12, C8orf49, CA2, CASP12, CCDC129, CCDC144NL, CCHCR1, CD180, CD207, CDC27, CDCP2, CELA1, CEP170, CHI3L1, CHIA, CHST9, CLDN16, CLDN5, CLEC7A, CLECL1, CLTCL1, CLYBL, CNTN5, COL26A1, COL6A5, COMT, COPZ2, CPN2, CREB3L1, CTA-299D3.8, CTC-241N9.1, CTD-3193O13.9, CYFIP2, DCAF7, DEFB126, DIXDC1, DNAH11, DNAH14, DNAJC28, DPPA4, DUSP5, EI24, EMG1, EPDR1, ERCC6L2, ETFB, FAM104B, FAM166A, FAM187B, FAM228B, FBXL21, FDFT1, FLG2, FOLH1, FPGT-TNNI3K, FRG1B, FSIP2, FUT2, GABRR3, GAS2L1, GBA3, GBE1, GBP1, GDPD4, GGT1, GLT6D1, GOLGA6L2, GPATCH4, GRIN3B, GZMB, HAAO, HCG27, HIBCH, HLA-A, HLA-DPB1, HPN, HPS4, HRNR, HSD17B14, HSH2D, HYDIN, IGHD2-15, IGHV3-23, IGHV3OR16-13, IGHV4-28, IGLJ2, IGLV3-12, IGLV3-16, IGLV4-60, IGLV5-48, IGLV8-61, IGSF3, IL32, IL34, INMT, IQSEC1, ITIH5, KIF18A, KIF19, KLHL25, KMT2B, KMT2C, KRBA1, KRT24, KRT37, KRTAP13-2, KRTAP19-6, KRTAP4-8, LCA10, LCN15, LEPREL2, LGALS8, LILRA1, LINC00955, LRIT1, LRP6, MADD, MAGEB16, MAL2, MALRD1, MAP2K3, MAPK8IP2, MDP1, MED28, METTL21C, METTL8, MICA, MMP28, MOK, MS4A12, MS4A14, MTAP, MTTP, MUC19, MUC3A, MUC6, MYOM1, NACA2, NAIF1, NCAM1, NCCRP1, NDUFB9, NDUFS6, NEK3, NLRC3, NLRP8, NOMO2, NOP16, NOTCH2NL, NPDC1, NPRL3, NQO1, NUDT11, NUDT18, OAS2, OPLAH, OR10D3, OR10J4, OR10X1, OR11G2, OR11H7, OR12D1, OR13C5, OR1B1, OR1S1, OR2L8, OR2T27, OR2T35, OR2T4, OR2T7, OR4C3, OR4C5, OR4P4, OR4Q2, OR4X1, OR51F1, OR51I2, OR52B4, OR52E8, OR52N4, OR5AR1, OR5B3, OR5K2, OR5K3, OR5K4, OR5M1, OR6C76, OR8K1, P2RX5, PAPPA-AS1, PCSK6, PDE4DIP, PDE6G, PGPEP1L, PIK3R6, PKD1L2, PLA2R1, PLCD3, PLEKHA2, PNLIPRP1, PNLIPRP2, PNPT1, POLDIP2, PPP1R9B, PPP5D1, PRB3, PRDM15, PRIM2, PRKDC, PRSS48, PSG7, PSG8, PSORS1C1, PTCHD3, PTPRQ, RBM48, RECQL4, RIBC2, RNASET2, RP11-1407O15.2, RP11-156E8.1, RP11-17M16.1, RP11-181C3.1, RP11-351M8.1, RP11-507M3.1, RP11-625H11.1, RP11-758M4.1, RP11-867G23.8, RPA1, RRM1, SARM1, SBK3, SCAMP1, SCARF2, SCRN3, SEMA4D, SENP3, SERPINB11, SERPINB5, SETD6, SIGLEC12, SIRT3, SLAIN1, SLC22A10, SLC37A4, SLC41A3, SLC46A1, SNRNP200, SON, SPSB4, SRL, SRRM3, SRSF8, SULT1C3, TAP2, TAS2R31, TAS2R46, TCEAL6, TCP10L2, TEX13A, TGOLN2, TIGD6, TLR10, TLR3, TMEM120A, TMPRSS11A, TMPRSS9, TNFRSF12A, TP53I11, TPTE, TRAJ36, TRAJ37, TRBV11-1, TRBV6-8, TRDMT1, TRGV11, TSGA10IP, TSPAN10, TTC4, TTLL3, TYW1B, UBE2NL, UPP2, USP29, USP48, VSIG10L, VTA1, WARS, WNK1, ZAN, ZC3H8, ZFYVE19, ZNF117, ZNF211, ZNF480, ZNF516, ZNF598, ZNF717, ZNF80, ZNF852, ZYX,

Genes at Omim

ADH1C, ALDH4A1, ALG9, AMPD1, APOL4, ARSB, BARD1, CA2, CASP12, CD207, CHI3L1, CLDN16, CLEC7A, COMT, DNAH11, EMG1, ERCC6L2, ETFB, FUT2, GBE1, GGT1, HIBCH, HLA-A, HLA-DPB1, HPS4, HYDIN, IGSF3, LRP6, MTAP, NDUFB9, NDUFS6, NPRL3, NQO1, OPLAH, PDE6G, PNPT1, PRKDC, PTPRQ, RECQL4, RNASET2, SCARF2, SLC37A4, SLC46A1, SNRNP200, SON, TAP2, TLR3, WNK1,
ADH1C {Alcohol dependence, protection against}, 103780 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
APOL4 {Schizophrenia}, 181500 (1)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CASP12 {Sepsis, susceptibility to} (3)
CD207 ?[Birbeck granule deficiency], 613393 (3)
CHI3L1 {Asthma-related traits, susceptibility to, 7}, 611960 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FUT2 [Bombay phenotype] (3)
{Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GGT1 Glutathioninuria (1)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
NDUFB9 ?Mitochondrial complex I deficiency, 252010 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PTPRQ Deafness, autosomal recessive 84A, 613391 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON Tokita-Kim syndrome, 617140 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
Wegener-like granulomatosis (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Herpes simplex encephalitis, susceptibility to, 2} 613002 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ALDH4A1, ALG9, AMPD1, ARSB, ATP6V1B1, BARD1, CA2, CD207, CLDN16, CLEC7A, COMT, CREB3L1, DNAH11, EMG1, ERCC6L2, ETFB, GBE1, HIBCH, HLA-A, HPS4, IGSF3, LRP6, MTAP, MTTP, NDUFS6, OPLAH, PDE6G, PNPT1, PRKDC, PTPRQ, RECQL4, RNASET2, SCARF2, SLC37A4, SLC46A1, SNRNP200, TAP2, TLR3, WNK1, ZNF480,
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
AMPD1 Myoadenylate deaminase deficiency
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CD207 Birbeck granule deficiency
CLDN16 Hypomagnesemia 3, renal
CLEC7A Candidiasis, familial, 4
COMT Medication response, association with
CREB3L1 Osteogenesis imperfecta, type XVI
DNAH11 Ciliary dyskinesia, primary, 7
EMG1 Bowen-Conradi syndrome
ERCC6L2 Bone marrow failure syndrome 2
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
GBE1 Glycogen storage disease IV
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A Drug-induced toxicity, susceptibility to
HPS4 Hermansky-Pudlak syndrome 4
IGSF3 Lacrimal duct defect
LRP6 Coronary artery disease, autosomal dominant 2
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTTP Abetalipoproteinemia
NDUFS6 Mitochondrial complex I deficiency
OPLAH 5-oxoprolinase deficiency
PDE6G Retinitis pigmentosa 57
PNPT1 Deafness, autosomal recessive 70
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PTPRQ Deafness, autosomal recessive 84
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
SCARF2 Van den Ende-Gupta syndrome
SLC37A4 Glycogen storage disease Id
Glycogen storage disease Ic
Glycogen storage disease Ib
SLC46A1 Folate malabsorption, hereditary
SNRNP200 Retinitis pigmentosa 33
TAP2 Bare lymphocyte syndrome, type I
TLR3 Herpes simplex encephalitis, susceptibility to, 2
WNK1 Neuropathy, hereditary sensory and autonomic, type IIA
Pseudohypoaldosteronism, type IIC
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 399
Number of Genes: 341

Export to: CSV

AC005609.1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs11321479
dbSNP
140242451 641.73 GC G . 1/1 16 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None None

AC010536.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs34111279
dbSNP
87729334 1165.73 C CA . 0/1 64 FRAME_SHIFT HIGH None None None None None None None

AC012123.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs200605696
dbSNP
30352057 767.73 GC... G . 0/1 22 FRAME_SHIFT HIGH None None None None None None None

AC017104.2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11295750,rs796987985
dbSNP
232317402 1491.73 CA C . 0/1 70 FRAME_SHIFT HIGH 0.23582 0.23580 None None None None None None None

AC020922.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs761097492
dbSNP
55856415 372.73 T TG . 0/1 37 FRAME_SHIFT HIGH None None None None None None None

AC062017.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs1709851
dbSNP
240323661 354.77 C A . 0/1 25 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.76178 0.76180 None None None None None None None
View mm170241ct 2 rs3215239
dbSNP
240323905 1170.73 T TG . 0/1 60 FRAME_SHIFT HIGH 0.51817 0.51820 None None None None None None None

AC074389.6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs117250982
dbSNP
1733474 449.77 G A . 0/1 29 STOP_GAINED HIGH NONSENSE 0.00859 0.00859 None None None None None None None

AC096644.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs10553491,rs67066512
dbSNP
220603310 2247.73 TGTGA T . 1/1 45 FRAME_SHIFT HIGH None None None None None None None

AC110781.3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs3889573
dbSNP
1878377 505.77 A G . 0/1 34 START_LOST HIGH MISSENSE 0.83646 0.83650 0.00 None None None None None None None

ADH1C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs283413
dbSNP
100268190 1652.77 A C . 1/1 46 STOP_LOST HIGH MISSENSE 0.99281 0.99280 0.00839 None None None None None None None

AKR7L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs115063329
dbSNP
19597370 384.77 G A . 0/1 41 STOP_GAINED HIGH NONSENSE 0.00919 0.00919 0.01292 None None None None None None None

ALDH3B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs58160034,rs397695802
dbSNP
67789293 1106.73 G GC . 1/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None None
View mm170241ct 11 rs11436139,rs58238184
dbSNP
67795378 1619.73 G GC . 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None None

ALDH4A1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs6695033
dbSNP
19201919 181.77 T C . 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.06550 0.06550 0.06758 0.03 0.69 None None None None None None None

ALG9

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs10708475,rs869187252
dbSNP
111742145 1280.73 CG C . 1/1 30 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None None

AMPD1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs17602729
dbSNP
115236057 2410.77 G A . 0/1 145 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.03814 0.03814 0.09459 None None None None None None None

ANKRD36

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 . 97851077 122.77 C A . 0/1 372 STOP_GAINED HIGH NONSENSE None None None None None None None

ANKRD36C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs74941794
dbSNP
96525771 410.77 A C . 0/1 478 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct 2 rs147285461
dbSNP
96610395 3184.65 C CA . 0/1 284 FRAME_SHIFT HIGH None None None None None None None

ANXA9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs267731
dbSNP
150955582 172.77 A G . 0/1 16 START_LOST HIGH MISSENSE 0.00699 0.00699 0.02760 0.03 0.99 None None None None None None None

AOAH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs59476355
dbSNP
36552729 3239.73 A AT . 1/1 88 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None None
View mm170241ct 7 rs57543920
dbSNP
36552790 2466.73 G GT . 1/1 66 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None None

AOC3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs408038
dbSNP
41003871 400.77 G A . 0/1 52 PROTEIN_INTERACTION_LOCUS HIGH 0.00180 0.23 0.05 None None None None None None None

APOBEC3A

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs35994173
dbSNP
39357581 51.77 C T . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.24581 0.24580 0.20635 None None None None None None None

APOBEC3B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs368511533
dbSNP
39387395 314.73 TG T . 0/1 26 FRAME_SHIFT HIGH 0.01897 0.01897 0.02056 None None None None None None None

APOBEC3G

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs17496046
dbSNP
39482371 265.77 C G . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.05731 0.05731 0.09296 0.05 1.00 None None None None None None None

APOL4

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs6000181
dbSNP
36598081 1335.77 A T . 1/1 43 START_LOST HIGH MISSENSE 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None None

AQP12B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs201917032
dbSNP
241621799 189.87 GC G . 1/1 5 FRAME_SHIFT HIGH 0.23203 0.23200 0.19662 None None None None None None None

ARSB

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1071598
dbSNP
78181423 806.77 C T . 0/1 53 PROTEIN_INTERACTION_LOCUS HIGH 0.10863 0.10860 0.13701 0.19 0.28 None None None None None None None

ATG9B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs11393607,rs77573754
dbSNP
150713902 641.73 G GC . 1/1 17 FRAME_SHIFT HIGH 1.00000 1.00000 0.00099 None None None None None None None

ATP6V1B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11681642
dbSNP
71163086 386.77 T C . 0/1 31 START_LOST HIGH MISSENSE 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None None

B3GNT6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs11292200,rs869242457,rs796140348
dbSNP
76751603 1692.73 CT C . 1/1 46 FRAME_SHIFT HIGH 1.00000 1.00000 0.00025 None None None None None None None
View mm170241ct 11 rs11292199,rs869161434
dbSNP
76751584 2048.73 CT C . 1/1 46 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None None
View mm170241ct 11 rs11292198,rs796338514
dbSNP
76751541 1850.73 CT C . 1/1 47 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None None

BARD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2070094
dbSNP
215632255 2513.77 C T . 0/1 153 PROTEIN_INTERACTION_LOCUS HIGH 0.36621 0.36620 0.28064 0.12 0.01 None None None None None None None

C10orf113

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs72102767,rs45546236
dbSNP
21435340 6491.73 ACACT A . 0/1 221 FRAME_SHIFT HIGH 0.25160 0.25160 0.19292 None None None None None None None

C11orf40

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs71280817
dbSNP
4592708 6117.73 C CAG . 1/1 124 FRAME_SHIFT HIGH 0.57612 None None None None None None None

C17orf100

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs56268735,rs397697335
dbSNP
6555546 2116.73 C CG . 1/1 54 FRAME_SHIFT HIGH 0.99980 0.99980 0.00401 None None None None None None None

C1orf210

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs764160703
dbSNP
43748618 533.77 G T . 0/1 58 STOP_GAINED HIGH NONSENSE None None None None None None None

C21orf49

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs72564613
dbSNP
34169317 2415.73 C CT . 1/1 55 FRAME_SHIFT HIGH 0.73183 0.73180 None None None None None None None

C22orf34

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs748558912
dbSNP
50018283 1082.73 T TC . 0/1 72 FRAME_SHIFT HIGH None None None None None None None

C2orf83

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2176186
dbSNP
228476140 407.77 C T . 0/1 38 STOP_GAINED HIGH NONSENSE 0.31390 0.31390 0.28079 None None None None None None None

C5orf20

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs12520799
dbSNP
134782450 1031.77 T A . 0/1 51 STOP_GAINED HIGH NONSENSE 0.64517 0.64520 0.40151 None None None None None None None

C5orf38

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs62333235
dbSNP
2755485 1370.77 C T . 0/1 112 STOP_GAINED HIGH NONSENSE 0.29673 0.29670 None None None None None None None

C5orf45

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs112867427
dbSNP
179280392 705.77 G A . 0/1 60 STOP_GAINED HIGH NONSENSE 0.00339 0.00340 0.00338 None None None None None None None

C8orf12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs3021518
dbSNP
11296049 980.77 T A . 0/1 91 STOP_LOST HIGH MISSENSE 0.07927 0.07927 None None None None None None None

C8orf49

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs809203
dbSNP
11619504 1239.77 T A . 0/1 73 STOP_GAINED HIGH NONSENSE 0.25140 0.25140 None None None None None None None

CA2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs703
dbSNP
86389403 1102.77 T C . 0/1 61 PROTEIN_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None None

CASP12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs497116
dbSNP
104763117 5156.77 G A . 1/1 142 STOP_GAINED HIGH NONSENSE 0.94848 0.94850 None None None None None None None

CCDC129

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs567140275,rs35589779
dbSNP
31697913 2647.73 C CT . 0/1 113 FRAME_SHIFT HIGH 0.35923 0.35920 None None None None None None None

CCDC144NL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs4605228
dbSNP
20768730 455.77 A G . 0/1 342 STOP_LOST HIGH MISSENSE 0.01018 0.01018 None None None None None None None

CCHCR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs72856718
dbSNP
31125257 601.77 C A . 0/1 43 STOP_GAINED HIGH NONSENSE 0.08127 0.08127 0.07480 None None None None None None None

CD180

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1697144
dbSNP
66480004 7707.77 T C . 1/1 221 PROTEIN_INTERACTION_LOCUS HIGH 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None None

CD207

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11450450,rs397692276
dbSNP
71062833 1913.73 G GC . 1/1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00025 None None None None None None None

CDC27

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs77685276
dbSNP
45214558 2515.77 G A . 0/1 453 STOP_GAINED HIGH NONSENSE None None None None None None None

CDCP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs76608277,rs3841798
dbSNP
54605318 741.73 T TG . 1/1 39 FRAME_SHIFT HIGH 0.18150 None None None None None None None
View mm170241ct 1 rs36013100
dbSNP
54605319 852.73 G GC . 0/1 40 FRAME_SHIFT HIGH 0.47983 0.47980 None None None None None None None

CELA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs17860363
dbSNP
51723598 1352.73 A AG . 0/1 79 FRAME_SHIFT HIGH 0.14557 0.14560 0.24992 None None None None None None None

CEP170

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2728433
dbSNP
243328887 324.77 G T . 0/1 464 STOP_GAINED HIGH NONSENSE None None None None None None None

CHI3L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs880633
dbSNP
203152801 243.77 T C . 0/1 17 PROTEIN_INTERACTION_LOCUS HIGH 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None None

CHIA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2275253
dbSNP
111861841 2623.77 A G . 1/1 73 PROTEIN_INTERACTION_LOCUS HIGH 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None None

CHST9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 . 24722740 5565.77 G A . 0/1 362 STOP_GAINED HIGH NONSENSE None None None None None None None

CLDN16

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs56086318,rs368234054
dbSNP
190106071 1590.73 AG A . 0/1 83 FRAME_SHIFT HIGH 0.11701 0.11700 None None None None None None None

CLDN5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs885985
dbSNP
19511925 428.77 G A . 0/1 30 STOP_GAINED HIGH NONSENSE 0.49681 0.49680 None None None None None None None

CLEC7A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs16910526
dbSNP
10271087 3156.77 A C . 0/1 225 STOP_GAINED HIGH NONSENSE 0.04093 0.04093 0.06113 None None None None None None None

CLECL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs71045297,rs113222621
dbSNP
9885707 6177.73 A AT... . 0/1 223 FRAME_SHIFT HIGH 0.54872 0.54870 0.43154 None None None None None None None

CLTCL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs11386977
dbSNP
19189003 1606.73 A AC . 1/1 40 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00051 None None None None None None None

CLYBL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs41281112
dbSNP
100518634 929.77 C T . 0/1 52 STOP_GAINED HIGH NONSENSE 0.02196 0.02196 0.02053 None None None None None None None

CNTN5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs12292659
dbSNP
99690376 588.77 C T . 0/1 218 STOP_GAINED HIGH NONSENSE 0.23515 None None None None None None None

COL26A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs36008849,rs398095266
dbSNP
101200669 2025.73 A AG . 1/1 59 FRAME_SHIFT HIGH 1.00000 1.00000 0.00137 None None None None None None None

COL6A5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs11355796,rs869228190,rs398091810
dbSNP
130190720 3180.74 AT A . 0/1 195 FRAME_SHIFT HIGH 0.49161 0.49160 None None None None None None None

COMT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs4680
dbSNP
19951271 831.77 G A . 0/1 54 PROTEIN_INTERACTION_LOCUS HIGH 0.36921 0.36920 0.45148 0.09 0.22 None None None None None None None

COPZ2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs199699704
dbSNP
46115072 165.87 C CG . 1/1 5 FRAME_SHIFT HIGH 0.99960 0.99960 None None None None None None None
View mm170241ct 17 rs201261614
dbSNP
46115084 328.77 T TGG . 1/1 7 FRAME_SHIFT HIGH 0.99780 0.99780 None None None None None None None

CPN2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs4974539
dbSNP
194061907 309.77 G A . 0/1 16 STOP_GAINED HIGH NONSENSE 0.28015 0.28020 0.34453 None None None None None None None

CREB3L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs79068197,rs386373762
dbSNP
46342259 1874.73 A AG . 1/1 48 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00042 None None None None None None None

CTA-299D3.8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs78672876
dbSNP
48940714 256.73 T TC . 0/1 26 FRAME_SHIFT HIGH 0.16633 0.16630 None None None None None None None

CTC-241N9.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1611076
dbSNP
179287622 1470.73 G GTA . 0/1 82 FRAME_SHIFT+STOP_GAINED HIGH 0.48263 0.48260 None None None None None None None

CTD-3193O13.9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs58971992,rs398079707
dbSNP
7938306 766.73 A AG . 1/1 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99960 0.99960 None None None None None None None

CYFIP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs5872508,rs397781034,rs397712438
dbSNP
156721863 2027.73 T TC . 1/1 56 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00203 None None None None None None None

DCAF7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs869311845,rs66502552,rs398031306
dbSNP
61660889 1521.73 CG C . 1/1 46 FRAME_SHIFT HIGH 1.00000 1.00000 0.00026 None None None None None None None

DEFB126

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs11467417,rs386393058
dbSNP
126310 13814.73 ACC A . 1/1 327 FRAME_SHIFT HIGH 0.43378 None None None None None None None

DIXDC1

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs11455434,rs376922505
dbSNP
111853106 2270.73 G GC . 1/1 59 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00009 None None None None None None None

DNAH11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2285943
dbSNP
21582963 457.77 G T . 0/1 37 STOP_GAINED HIGH NONSENSE 0.41194 0.41190 0.42685 None None None None None None None

DNAH14

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs144339803
dbSNP
225380561 3067.73 CAAAG C . 0/1 122 FRAME_SHIFT HIGH 0.01957 0.01957 0.03975 None None None None None None None

DNAJC28

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs139852262,rs3834674
dbSNP
34860749 4029.73 CA... C . 0/1 151 FRAME_SHIFT HIGH 0.15176 0.15180 0.16323 None None None None None None None

DPPA4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs16855561
dbSNP
109056363 1545.77 A G . 0/1 99 START_LOST HIGH MISSENSE 0.05092 0.05092 0.06120 0.03 0.00 None None None None None None None

DUSP5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs1889567
dbSNP
112266771 840.77 C T . 0/1 78 PROTEIN_INTERACTION_LOCUS HIGH 0.28355 0.28350 0.31355 None None None None None None None

EI24

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs55912941,rs397812741
dbSNP
125452300 3398.73 A AC . 1/1 93 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00194 None None None None None None None

EMG1

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs11428482
dbSNP
7080212 1719.73 T TC . 1/1 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00052 None None None None None None None
View mm170241ct 12 rs17857448
dbSNP
7080212 1048.29 T C,G . 1/2 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00052 None None None None None None None

EPDR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs201513905,rs76859517
dbSNP
37960262 4883.73 AA... A . 1/1 67 FRAME_SHIFT HIGH 0.16074 0.16070 0.26081 None None None None None None None

ERCC6L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs690528
dbSNP
98638288 137.77 A G . 0/1 21 START_LOST HIGH MISSENSE 0.25240 0.25240 0.24126 0.71 0.02 None None None None None None None

ETFB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs141529162,rs55874945
dbSNP
51857614 286.73 T TG . 0/1 32 FRAME_SHIFT HIGH 0.02376 0.02376 0.03243 None None None None None None None

FAM104B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs113263757
dbSNP
55172630 1033.77 G A . 0/1 286 STOP_GAINED HIGH NONSENSE None None None None None None None

FAM166A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs570890546
dbSNP
140138735 650.73 CAG C . 0/1 30 FRAME_SHIFT HIGH 0.00200 0.00200 0.00479 None None None None None None None

FAM187B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs541169
dbSNP
35719020 2935.77 C T . 1/1 87 STOP_GAINED HIGH NONSENSE 0.31829 0.31830 0.32539 None None None None None None None

FAM228B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs113322110,rs397822939
dbSNP
24387178 1659.73 G GC . 1/1 42 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.96206 0.96210 0.03057 None None None None None None None

FBXL21

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs140125393,rs35444976
dbSNP
135272373 3137.73 C CA . 0/1 170 FRAME_SHIFT HIGH 0.02436 0.02436 0.04622 None None None None None None None