fileformat=generic hgncSymbol geneNameLong chrPos cSeqAnnotation cPosition cRef cAlt pSeqAnnotation pPosition pRef pAlt rsid zygPeter zygMama zygPapa effect freq1 freq2 homoShares heteroShares omimNumber omimDiseaseNames variantAccession variantPathogenicity polyPhen mutationTaster sift gerp grantham phat phast phyloP strandBias knownSplice totDepthPeter varDepthPeter qualPeter totDepthMama varDepthMama qualMama totDepthPapa varDepthPapa qualPapa ACADS "acyl-CoA dehydrogenase, C-2 to C-3 short chain" chr12:121175678 NM_000017:ex5:c.C511T:p.R171W rs1800556 het wt wt missense 0.0488 0.046296 606885 "Acyl-CoA dehydrogenase, short-chain, deficiency of" CM980008 DP 0.979 D 0.97 1.81 0.89 27 366 15 337 22 261 ALG9 "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog" chr11:111742146 "NM_024740:ex2:c.60+1C>-:, NM_024740:ex3:c.61-1C>-:, NM_001077690:ex2:c.60+1C>-:, NM_001077690:ex3:c.61-1C>-:" rs10708475 het wt het missense 606941 Congenital disorder of glycosylation 1l CM052167 FP 28 275 20 268 12 416 ALMS1 Alstrom syndrome 1 chr2:73799632 NM_015120:ex16:c.C10625G:p.T3542S rs45501594 het hom het missense 0.00455 0.010118 606844 Alstrom syndrom CM077175 FP 0.995 N 0.84 3.03 0.98 43 326 18 195 18 405 ALMS1 Alstrom syndrome 1 chr2:73613068 NM_015120:ex1:c.72_74del:p.24_25del hom het het nonframeshift 606844 Alstrom syndrom CD075313 DP 60 487 26 432 26 525 CTSA cathepsin A chr20:44520261 "NM_000308:ex2:c.108_110del:p.36_37del, NM_001127695:ex2:c.54_56del:p.18_19del, NM_001167594:ex2:c.108_110del:p.36_37del" hom het het nonframeshift 613111 Galactosialidosis CM931195 DP 39 361 35 361 24 311 DSPP dentin sialophosphoprotein chr4:88537261 NM_014208:ex5:c.A3447T:p.E1149D het wt het missense 0.00151515 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III" CM40732 N 0.35 -1.58 0.095 32 1088 19 117 19 353 DSPP dentin sialophosphoprotein chr4:88536321 NM_014208:ex5:c.2507_2509del:p.836_837del het wt wt nonframeshift 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III " 35 518 27 481 35 384 DSPP dentin sialophosphoprotein chr4:88537276 NM_014208:ex5:c.3462_3488del:p.1154_1163del het het wt nonframeshift 0.017 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III " 47 401 18 314 27 422 DSPP dentin sialophosphoprotein chr4:88536459 NM_014208:ex5:c.2645_2646insTAGTGACAG:p.S882delins... het het wt nonframeshift 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III " 20 492 43 254 43 117 DSPP dentin sialophosphoprotein chr4:88536868 NM_014208:ex5:c.3054_3155TAGTGACAGCAGCAACAGCAGTGAC... het het het nonframeshift 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III " 26 384 43 384 60 383 DSPP dentin sialophosphoprotein chr4:88537018 NM_014208:ex5:c.T3204C:p.D1068D het het hom synonymous 0.017054 125485 "Deafness, autosomal dominant 36, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III " 38 680 31 101 31 429 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 chr2:88926752 NM_004836:ex1:c.39_41del:p.13_14del hom het het nonframeshift 604032 Wolcott-Rallison syndrome CD097427 25 373 50 350 43 64 FLG filaggrin chr1:152277309 NM_002016:ex3:c.C10053T:p.D3351D rs34687484 het wt het synonymous 0.0021 0.004701 135940 Ichthyosis vulgaris 8 111 5 17 5 14 FLG filaggrin chr1:152283053 NM_002016:ex3:c.C4309T:p.R1437C rs12750571 het het wt missense 0.0082 0.005413 135940 Ichthyosis vulgaris 0.988 N 0.95 1.27 0.903 27 512 26 384 33 477 FLG filaggrin chr1:152282952 NM_002016:ex3:c.T4410C:p.H1470H rs12732920 het het het synonymous 0.01786 0.022792 135940 Ichthyosis vulgaris 20 493 23 493 32 433 FLG filaggrin chr1:152281745 NM_002016:ex3:c.C5617A:p.Q1873K rs62623409 het hom het missense 0.0186 0.022792 135940 Ichthyosis vulgaris 0.972 N 0.97 2.74 0.994 33 364 1 311 5 65 FLG filaggrin chr1:152277554 NM_002016:ex3:c.C9808T:p.R3270C rs35621145 het het wt missense 0.0192 0.022507 135940 Ichthyosis vulgaris 0.444 N 1 -3.23 0.007 41 125 38 124 56 533 FLG filaggrin chr1:152282910 NM_002016:ex3:c.C4452G:p.D1484E rs71626706 het wt het missense 0.0206 0.022792 135940 Ichthyosis vulgaris 0.766 N 0 -4.6 0.017 32 208 36 1900 37 782 FLG filaggrin chr1:152281691 NM_002016:ex3:c.C5671T:p.R1891W rs36006086 het hom het missense 0.0212 0.022792 135940 Ichthyosis vulgaris 0.629 N 0.81 -2.25 0.019 33 1658 60 198 27 421 FLG filaggrin chr1:152282794 NM_002016:ex3:c.C4568T:p.T1523I rs12750081 het hom het missense 0.02183 0.022792 135940 Ichthyosis vulgaris 0.84 N 0.84 -0.583 0.226 42 854 37 158 34 735 FLG filaggrin chr1:152281317 NM_002016:ex3:c.C6045A:p.D2015E rs71626704 het wt het missense 0.0221 0.022792 135940 Ichthyosis vulgaris 0.97 N 0 -2.14 0.76 55 1638 60 168 60 1165 FLG filaggrin chr1:152279964 NM_002016:ex3:c.G7398A:p.P2466P rs71625199 het wt het synonymous 0.0234 0.022934 135940 Ichthyosis vulgaris 44 275 6 214 25 40 FLG filaggrin chr1:152285181 NM_002016:ex3:c.C2181A:p.H727Q rs7512779 het het wt missense 0.0235 0.022792 135940 Ichthyosis vulgaris 0.933 N 0.36 -6.27 0 8 44 14 384 8 269 FLG filaggrin chr1:152281621 NM_002016:ex3:c.A5741G:p.Q1914R rs34806697 het wt het missense 0.0764 0.091026 135940 Ichthyosis vulgaris 0.197 N 0 -6.91 0 30 953 30 105 27 629 FLG filaggrin chr1:152280471 NM_002016:ex3:c.G6891C:p.E2297D rs78179835 het wt het missense 0.111538 135940 Ichthyosis vulgaris 0.203 N 0 -5.26 0.152 25 684 62 391 62 160 FLG filaggrin chr1:152276699 NM_002016:ex3:c.T10663C:p.W3555R rs12728605 het wt het missense 0.030083 135940 Ichthyosis vulgaris 0.776 N 0.48 -3.93 0.001 32 447 44 413 44 32 FLG filaggrin chr1:152284424 NM_002016:ex3:c.C2938G:p.H980D rs12756586 het wt het missense 0.022222 135940 Ichthyosis vulgaris N 0.19 -4.99 0.002 8 374 44 263 56 261 FLG filaggrin chr1:152280782 NM_002016:ex3:c.T6580C:p.Y2194H rs2184953 het hom het missense 0.169801 135940 Ichthyosis vulgaris 0 P 0.88 -2.57 0 38 97 37 984 37 920 FLG filaggrin chr1:152276459 NM_002016:ex3:c.G10903A:p.D3635N rs75448155 het hom het missense 0.116466 135940 Ichthyosis vulgaris 0.993 N 0.56 2.76 0.954 70 151 30 1391 35 614 FLG filaggrin chr1:152283306 NM_002016:ex3:c.T4056A:p.S1352R rs34597212 het het hom missense 0.001282 135940 Ichthyosis vulgaris 0.734 N 0.54 -0.0476 0.857 59 134 48 1286 48 121 FLG filaggrin chr1:152280900 NM_002016:ex3:c.A6462C:p.Q2154H rs74129452 het het hom missense 0.146724 135940 Ichthyosis vulgaris 0.001 N 0.82 -4.15 0.003 18 199 42 199 41 367 FLG filaggrin chr1:152280788 NM_002016:ex3:c.A6574C:p.K2192Q rs66954353 het hom het missense 0.092308 135940 Ichthyosis vulgaris 0 N 0.45 -0.167 0.144 28 422 51 422 29 278 GBA "glucosidase, beta, acid" chr1:155206167 "NM_001171811:ex7:c.G832A:p.E278K, NM_001171812:ex7:c.G946A:p.E316K, NM_000157:ex8:c.G1093A:p.E365K, NM_001005741:ex9:c.G1093A:p.E365K, NM_001005742:ex9:c.G1093A:p.E365K" rs2230288 het wt wt missense 0.01357 0.011681 606463 Gaucher disease CM910176 D 0.57 3.43 0.995 25 433 22 433 16 478 HSPG2 heparan sulfate proteoglycan 2 chr1:22179451 NM_005529:ex51:c.G6552A:p.T2184T rs34443576 het wt het synonymous 0.0378 0.058153 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 46 589 21 387 19 441 HSPG2 heparan sulfate proteoglycan 2 chr1:22168845 NM_005529:ex68:c.T8939A:p.L2980H rs2229489 het wt het missense 0.0383 0.057265 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" N 0.53 4.51 0.947 23 53 23 512 23 56 HSPG2 heparan sulfate proteoglycan 2 chr1:22181895 NM_005529:ex47:c.G5899A:p.V1967I rs2229475 het het wt missense 0.0405 0.057725 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 0.896 D 0.88 4.68 0.998 59 184 51 1395 51 1293 HSPG2 heparan sulfate proteoglycan 2 chr1:22179244 NM_005529:ex52:c.G6673A:p.G2225S rs35669711 het hom het missense 0.0405 0.058689 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 0.001 N 0.93 -1.05 0.838 13 147 8 147 10 123 HSPG2 heparan sulfate proteoglycan 2 chr1:22180723 NM_005529:ex50:c.G6402A:p.V2134V rs12742444 het het het synonymous 0.0416 0.055508 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 24 255 30 255 15 586 HSPG2 heparan sulfate proteoglycan 2 chr1:22174518 NM_005529:ex60:c.C7806A:p.V2602V rs12737091 het hom het synonymous 0.0471 0.058706 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 22 230 19 230 25 372 HSPG2 heparan sulfate proteoglycan 2 chr1:22186113 NM_005529:ex42:c.A5239C:p.T1747P het het het missense 0.115516 142461 "Schwartz-Jampel syndrome; Dyssegmental dysplasia, Silverman-Handmaker type" 0.999 D 0.87 5.01 0.997 18 741 28 741 25 512 PEX11G peroxisomal biogenesis factor 11 gamma chr19:7542168 NM_080662:ex5:c.C646T:p.L216F rs11668511 hom het het missense 0.0351 0.030294 607583 - 0.985 D 0.7 4.77 0.999 14 150 21 1192 20 414 PRDM2 "PR domain containing 2, with ZNF domain" chr1:14106399 NM_012231:ex8:c.2109_2110insCCT:p.P703delinsPP het het wt nonframeshift 601196 CD043415 DP 48 30 37 570 60 438 SCN9A "sodium channel, voltage-gated, type IX, alpha subunit" chr2:167160752 NM_002977:ex6:c.C684G:p.I228M rs71428908 het wt het missense 0.00093 0.001568 603415 "Dravet syndrome, Insensitivity to pain, Epilepsy, Erythermalgia, Parozysmal extreme pain disorder, Small fiber neuropathy" CM0910320 49 378 39 321 27 469 SYNGR1 synaptogyrin 1 chr22:39777824 NM_004711:ex4:c.607_608insACA:p.T203delinsNT rs57910921 het wt het nonframeshift 603925 CI077005 FP 59 185 77 1824 77 1989 TMEM216 transmembrane protein 216 chr11:61165280 "NM_001173991:ex5:c.G440C:p.R147T, NM_016499:ex5:c.G257C:p.R86T" rs10897158 hom het hom splicing 0.851709 613277 Joubert syndrome 2; Meckel syndrome 2 CS103901 DP 45 640 7 388 14 141 VLDLR very low density lipoprotein receptor chr9:2643480 NM_003383.3:c.1249_1255delTACAAGT hom het het frameshift 192977 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 CD125679 DM 53 568 19 420 19 362 ZWILCH zwilch kinetochore protein chr15:66806386 NM_017975:ex3:c.A166C:p.N56H rs79460599 het het hom missense 609984 0.006 N 0.83 1.87 0.857 65 368 10 500 17 46