Family Analysis

FATHER MOTHER INHERITANCE
SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
Exclude individuals:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

OMIM
CGD
CGD MANIFESTATION
HGMD
Name User Created on Options
mendel cednam@gmail.com Dec. 15, 2016, 4:05 p.m. EditDelete
Name User Created on Options
colangio Francieleb March 17, 2017, 5:04 p.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:11 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:11 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:14 a.m. EditDelete
Name User Created on Options
an120 nwaseem Oct. 5, 2017, 11:15 a.m. EditDelete

Example of genotype information:

0/1:0.45:10,12:22:99:211,0,262

GT:AB:AD:DP:GQ:PL

GT: Genotype

Genotype, encoded as allele values separated by either of ”/” or “|”. The allele values are 0 for the reference allele (what is in the REF field), 1 for the first allele listed in ALT, 2 for the second allele list in ALT and so on. For diploid calls examples could be 0/1, 1|0, or 1/2, etc. For haploid calls, e.g. on Y, male non-pseudoautosomal X, or mitochondrion, only one allele value should be given; a triploid call might look like 0/0/1. If a call cannot be made for a sample at a given locus, ”.” should be specified for each missing allele in the GT field (for example "./." for a diploid genotype and "." for haploid genotype). The meanings of the separators are as follows (see the PS field below for more details on incorporating phasing information into the genotypes)

AB: Allele balance for each het genotype

The allele balance (fraction of ref bases over ref + alt bases) across all bialleleic het-called samples

AD: Allelic depths for the ref and alt alleles in the order listed

The depth of coverage of each VCF allele in this sample.

DP: Read Depth (only filtered reads used for calling) GQ: Genotype Quality

Conditional genotype quality, encoded as a phred quality -10log_10p(genotype call is wrong, conditioned on the site's being variant) (Float)

PL: Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification

The phred-scaled genotype likelihoods rounded to the closest integer (and otherwise defined precisely as the GL field) (Integers)

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Genes at Omim

ALK, FANCD2, HLA-DRB1, HTT, HYDIN, ITGB4, JPH3, MYO15A, OTOG, RECQL4, ZNF141,
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
HLA-DRB1 {Sarcoidosis, susceptibility to, 1}, 181000 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Pemphigoid, susceptibility to} (2)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
HTT Huntington disease, 143100 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa of hands and feet, 131800 (3)
JPH3 Huntington disease-like 2, 606438 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
RECQL4 Rothmund-Thomson syndrome, 268400 (3)
RAPADILINO syndrome, 266280 (3)
Baller-Gerold syndrome, 218600 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ALK, FANCD2, HTT, ITGB4, JPH3, MYO15A, OTOG, RECQL4, WRN, ZNF141,
ALK Neuroblastoma, susceptibility to, 3
FANCD2 Fanconi anemia, complementation group D2
HTT Huntington disease
ITGB4 Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
JPH3 Huntington disease-like 2
MYO15A Deafness, autosomal recessive 3
OTOG Deafness, autosomal recessive 18B
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
WRN Werner syndrome
ZNF141 Postaxial polydactyly type A, autosomal recessive

Summary

Number of Variants: 374
Number of Genes: 51

Export to: CSV
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD

ADAM21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 14 rs8010994,rs71423393
dbSNP
70924501 2737.41 C G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00
View v12 snp 14 rs72735759
dbSNP
70924602 960.8 T G PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.49
View v7 snp 14 rs72735759
dbSNP
70924602 1131.57 T G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.49

ALK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 2 rs200992945
dbSNP
29448410 108.79 T G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.33
View v12 snp 2 rs200992945
dbSNP
29448410 102.83 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.33

ANAPC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 2 rs79100806
dbSNP
112615888 425.72 C G PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00
View v12 snp 2 rs79100806
dbSNP
112615888 433.19 C G PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00

ARSD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp X rs73632978
dbSNP
2836238 340.79 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.09
View v12 snp X rs67359049
dbSNP
2836047 152.76 C T PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.33
View v7 snp X rs67359049
dbSNP
2836047 922.71 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.33
View v7 snp X rs78034736
dbSNP
2835863 1063.74 G T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98
View v7 snp X rs73632977
dbSNP
2836211 1252.37 A T PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.64
View v7 snp X rs73632978
dbSNP
2836238 744.53 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.09
View v12 snp X rs78034736
dbSNP
2835863 542.79 G T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98
View v12 snp X rs67272620
dbSNP
2836041 143.13 A T PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v12 snp X rs73632977
dbSNP
2836211 588.47 A T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.64

C3orf17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 3 rs147762157
dbSNP
112732195 1518.17 C T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00439 0.00439 0.00884 0.00 1.00
View v7 snp 3 . 112724666 2746.14 T G PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.02

CADPS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 7 rs114565334
dbSNP
122056213 1039.11 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00359 0.00359 0.00406 0.65 0.00
View v7 snp 7 rs76528953
dbSNP
122027130 896.6 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.00100 0.00245 0.02 0.99

CDK11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 1 rs72909030
dbSNP
1650832 1848.86 A G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01
View v12 snp 1 rs72909030
dbSNP
1650832 1335.37 A G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01

DNAH14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 1 rs191528375
dbSNP
225380564 1300.25 A G PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00419 0.00419 0.01
View v12 snp 1 . 225521012 1501.74 T C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62

EVPL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 17 rs74955334
dbSNP
74017554 202.7 G T PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.01
View v12 snp 17 rs74955334
dbSNP
74017554 154.53 G T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.01

FAM104B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp X rs5018688
dbSNP
55172716 1292.35 C T PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.97
View v12 snp X rs113263757
dbSNP
55172630 1617.79 G A PASS 0/1 250 STOP_GAINED HIGH NONSENSE
View v7 snp X rs751109928
dbSNP
55172675 1160.68 C T PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.14

FAM186A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 12 rs201307392
dbSNP
50745703 497.2 T G PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.00
View v12 snp 12 rs201307392
dbSNP
50745703 146.5 T G PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.00

FANCD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 3 rs73126218
dbSNP
10088343 631.5 A G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.02
View v7 snp 3 rs73126218
dbSNP
10088343 271.58 A G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.02

FRG2C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 3 rs73840323
dbSNP
75714337 834.64 T G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v7 snp 3 rs73840324
dbSNP
75714345 450.5 G T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.24
View v7 snp 3 rs74714110
dbSNP
75714298 598.82 A G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64 0.00
View v12 snp 3 rs73840323
dbSNP
75714337 871.48 T G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v12 snp 3 rs74714110
dbSNP
75714298 676.82 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64 0.00
View v12 snp 3 rs73840324
dbSNP
75714345 511.61 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.24

GOLGA6L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 15 rs759748627
dbSNP
23686019 145.31 G C PASS 0/1 197 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 15 rs111155255
dbSNP
23686228 1075.28 G T PASS 0/1 210 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 15 rs757742999
dbSNP
23686207 386.43 T G PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 15 rs75983100
dbSNP
23686031 184.89 T C PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v12 snp 15 rs759748627
dbSNP
23686019 108.34 G C PASS 0/1 165 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v12 snp 15 rs75983100
dbSNP
23686031 168.18 T C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00

GPR162

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 12 rs116301443
dbSNP
6933704 1155.21 C G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00277 0.14 0.61
View v7 snp 12 rs200837170
dbSNP
6936032 1746.76 C T PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.54 0.03

HLA-DRB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 6 rs201929247
dbSNP
32549588 334.47 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.08
View v7 snp 6 rs150747106
dbSNP
32552039 165.54 C T PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.35
View v12 snp 6 rs150747106
dbSNP
32552039 877.09 C T PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.35

HTT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 4 rs747079499
dbSNP
3189593 565.66 G T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68
View v7 snp 4 rs201702168
dbSNP
3221998 1547.66 A T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.00258 0.03

HYDIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 16 rs1798529,rs77472425
dbSNP
70954774 4317.76 A G PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 16 rs1798529,rs77472425
dbSNP
70954774 2979.44 A G PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 16 rs202040176
dbSNP
71113844 388.51 A G PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93

IGHV5-51

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 14 rs72686844
dbSNP
107034967 328.1 T C PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.30 0.00
View v12 snp 14 rs199503234
dbSNP
107034822 64.05 C G PASS 0/1 211 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00
View v12 snp 14 rs72686843
dbSNP
107034920 192.55 C T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.58 0.00
View v7 snp 14 rs199503234
dbSNP
107034822 176.65 C G PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00
View v7 snp 14 rs72686844
dbSNP
107034967 1029.77 T C PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.30 0.00
View v7 snp 14 rs72686843
dbSNP
107034920 869.77 C T PASS 0/1 235 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.58 0.00

IGHV7-81

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 14 rs149038822
dbSNP
107282926 728.65 A T PASS 0/1 217 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73 0.00
View v7 snp 14 rs201762529
dbSNP
107282935 173.0 A T PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v12 snp 14 rs201762529
dbSNP
107282935 717.97 A T PASS 0/1 221 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v7 snp 14 rs149038822
dbSNP
107282926 201.75 A T PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73 0.00

ITGB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 17 . 73726575 1501.77 G T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.93
View v12 snp 17 . 73736523 1280.56 G C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.87

JPH3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 16 rs200796473
dbSNP
87723568 1253.07 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00379 0.00379 0.00269 0.68 0.00
View v12 snp 16 rs200634233
dbSNP
87678596 4064.93 G A PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.06 0.56

KCNJ12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 17 rs73979902
dbSNP
21319868 2303.19 G T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.02
View v12 snp 17 rs72846667
dbSNP
21319285 1339.73 C T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79
View v12 snp 17 rs77048459
dbSNP
21319369 975.02 G A PASS 0/1 245 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.29
View v12 snp 17 rs80203231
dbSNP
21319682 1694.19 C T PASS 0/1 230 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.47
View v12 snp 17 rs73979902
dbSNP
21319868 1584.61 G T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.02
View v12 snp 17 rs78117732
dbSNP
21318782 1849.35 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.03
View v12 snp 17 rs73979893
dbSNP
21318867 1721.42 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v12 snp 17 rs76265595
dbSNP
21319069 1144.94 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.98
View v12 snp 17 rs76518282
dbSNP
21319079 1039.62 C A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.95
View v12 snp 17 rs75029097
dbSNP
21319087 1254.83 G A PASS 0/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.03 0.87
View v12 snp 17 rs73313922
dbSNP
21319171 1831.09 G A PASS 0/1 245 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 0.92
View v12 snp 17 rs73979896
dbSNP
21319208 2006.44 C T PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.16
View v7 snp 17 rs74880280
dbSNP
21318760 2465.32 G T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.01
View v7 snp 17 rs78117732
dbSNP
21318782 2241.2 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.03
View v7 snp 17 rs73979893
dbSNP
21318867 2222.27 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00
View v7 snp 17 rs76265595
dbSNP
21319069 1742.82 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.98
View v7 snp 17 rs75029097
dbSNP
21319087 1875.54 G A PASS 0/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.03 0.87
View v7 snp 17 rs73313922
dbSNP
21319171 2018.04 G A PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 0.92
View v7 snp 17 rs73979896
dbSNP
21319208 2104.77 C T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.16
View v7 snp 17 rs72846667
dbSNP
21319285 2048.82 C T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79
View v7 snp 17 rs80203231
dbSNP
21319682 1602.67 C T PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.47

KRTAP9-1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 17 rs79470847
dbSNP
39346622 387.03 T A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.00
View v12 snp 17 rs79470847
dbSNP
39346622 692.37 T A PASS 0/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.00

MADCAM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v7 snp 19 rs77264553
dbSNP
501786 116.77 C A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61 0.88
View v12 snp 19 rs77264553
dbSNP
501786 111.01 C A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61 0.88
View v12 snp 19 rs200007467
dbSNP
501762 520.01 A C PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00

MCM3AP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 21 rs144904756
dbSNP
47686037 4120.38 A C PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.00469 0.21 0.34
View v7 snp 21 rs144151494
dbSNP
47703705 1183.85 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.00277 0.10 0.12

MUC17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Father Mother Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 DANN CADD OMIM HGMD
View v12 snp 7 rs77299546
dbSNP
100678622 724.73 G A PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 7 rs77299546
dbSNP
100678622 569.7 G A PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00
View v7 snp 7 rs113959201
dbSNP
100678616 482.89 G A PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00