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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 95

+ Genes associated with diseases 18

Genes at Omim

ARID1B, CYP26C1, ESPN, GATAD1, GJC2, HLA-DRB1, HP, IRF2BPL, IRF7, LONP1, LTBP3, MRPS7, MYO15A, RIN2, SOX10, TPRN, TRAF3IP1, TRIOBP,
ARID1B Coffin-Siris syndrome 1, 135900 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
ESPN Deafness, autosomal recessive 36, 609006 (3)
Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
GATAD1 ?Cardiomyopathy, dilated, 2B, 614672 (3)
GJC2 Leukodystrophy, hypomyelinating, 2, 608804 (3)
Lymphatic malformation 3, 613480 (3)
Spastic paraplegia 44, autosomal recessive, 613206 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HP [Anhaptoglobinemia], 614081 (3)
[Hypohaptoglobinemia], 614081 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP3 Dental anomalies and short stature, 601216 (3)
Geleophysic dysplasia 3, 617809 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRAF3IP1 Senior-Loken syndrome 9, 616629 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)

Genes at Clinical Genomics Database

ARID1B, CYP26C1, CYP2C19, ESPN, GATAD1, GJC2, HP, IRF7, LONP1, LTBP3, MYO15A, RIN2, SOX10, TPRN, TRAF3IP1, TRIOBP,
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
CYP26C1 Focal facial dermal dysplasia 4
CYP2C19 Drug metabolism, CYP2C19-related
ESPN Deafness, autosomal dominant, without vestibular involvement
Deafness, autosomal recessive 36
GATAD1 Cardiomyopathy, dilated, 2B
GJC2 Lymphedema, hereditary, IC
Spastic paraplegia 44, autosomal recessive
Leukodystrophy, hypomyelinating, 2
HP Anhaptoglobinemia
Hypohaptoglobinemia
IRF7 Immunodeficiency 39
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP3 Dental anomalies and short stature
MYO15A Deafness, autosomal recessive 3
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
TPRN Deafness, autosomal recessive 79
TRAF3IP1 Senior-Loken syndrome 9
TRIOBP Deafness, autosomal recessive 28

Genes at HGMD

Summary

Number of Variants: 5216
Number of Genes: 95

Export to: CSV

ADRA1D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 20 rs184418609
dbSNP Clinvar 		4229514 84.59 T C LowQual 1|0 4 NON_SYNONYMOUS_CODING MODERATE None 0.25559 0.25560 1.00 0.00 None None None None None None ADRA1D|0.152836614|42.55%

AGAP4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs782160782
dbSNP Clinvar 		46342667 55.84 CG... C LowQual 1|1 2 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.37838 None None None None None None AGAP4|0.00701941|83.47%

AP001362.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 rs4787
dbSNP Clinvar 		65359910 79.16 C T LowQual 0|1 5 NON_SYNONYMOUS_CODING MODERATE None 0.55411 0.55410 0.00 None None None None None None EHBP1L1|0.033604375|67.91%

ARID1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 rs184815562
dbSNP Clinvar 		157100005 33.32 C A LowQual 1|0 12 SYNONYMOUS_CODING LOW None None None None None None None ARID1B|0.540737445|14.17%

ASTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs757940762
dbSNP Clinvar 		120176908 47.27 CGCG C LowQual 1|0 19 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02023 None None None None None None ASTN2|0.952118309|2.19%

BHLHE22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 8 rs544639534
dbSNP Clinvar 		65493617 38.21 T TGGC LowQual 0|1 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00280 0.07688 None None None None None None BHLHE22|0.316142463|26.34%

BTBD6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs2816604
dbSNP Clinvar 		105715327 43.82 A C LowQual 1|0 4 SYNONYMOUS_CODING LOW None 0.29453 0.29450 None None None None None None BRF1|0.023675116|72.34%,BTBD6|0.036822903|66.86%

C16orf98
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 . 31214031 30.94 G T LowQual 1|0 10 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None PYCARD|0.013494453|78.21%,PYCARD-AS1|0.002056684|90.83%

C1orf50
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs375132855
dbSNP Clinvar 		43233072 60.29 C T LowQual 1|0 8 None None None 0.00060 0.00060 0.00351 None None None None None None C1orf50|0.034019891|67.78%

CCDC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs1171830
dbSNP Clinvar 		61665886 89.92 C A LowQual 1|0 2 SYNONYMOUS_CODING LOW None 0.37540 0.37540 0.35022 None None None None None None CCDC6|0.392303176|21.24%

CDR2L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs3744204
dbSNP Clinvar 		72999773 78.16 C T LowQual 1|0 2 SYNONYMOUS_CODING LOW None 0.26078 0.26080 0.23048 None None None None None None CDR2L|0.106350363|49.89%

CECR5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs11550530
dbSNP Clinvar 		17640022 51.57 G C LowQual 1|0 6 SYNONYMOUS_CODING LOW None 0.10443 0.10440 0.05552 None None None None None None CECR5|0.017841954|75.38%

CENPV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs539910742
dbSNP Clinvar 		16256686 50.1 G GC... LowQual 0|1 2 CODON_INSERTION MODERATE None 0.53375 0.53370 0.27741 None None None None None None CENPV|0.053229738|61.73%

CHAC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11557249
dbSNP Clinvar 		41245676 67.98 G A LowQual 1|1 3 SYNONYMOUS_CODING LOW None 0.23682 0.23680 0.32195 None None None None None None CHAC1|0.120710886|47.34%

CNOT11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs2272320
dbSNP Clinvar 		101869588 31.72 G T LowQual 0|1 10 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.34657 None None None None None None CNOT11|0.296950067|27.88%

COLEC12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 18 rs2305026
dbSNP Clinvar 		334758 56.69 T C LowQual 1|0 4 SYNONYMOUS_CODING LOW None 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%

CTBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs3781413
dbSNP Clinvar 		126715075 87.16 T C LowQual 1|0 8 SYNONYMOUS_CODING LOW None 0.12161 0.12160 0.11482 None None None None None None CTBP2|0.585435328|12.33%

CTNND2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 5 rs761404692
dbSNP Clinvar 		11385201 79.22 CGCG C LowQual 0|1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTNND2|0.800146272|5.83%

CYP26C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 . 94825854 40.93 T G LowQual 0|1 8 NON_SYNONYMOUS_CODING MODERATE None 0.36 0.01 None None None None None None CYP26C1|0.180777393|38.94%

CYP2C19
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs4244285
dbSNP Clinvar 		96541616 63.15 G A LowQual 1|0 9 SYNONYMOUS_CODING LOW None 0.22145 0.22140 0.15413 None None None None None None CYP2C19|0.213882881|35.14%

DNAH10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 12 rs80041527
dbSNP Clinvar 		124288212 76.69 C T LowQual 1|0 11 SYNONYMOUS_CODING LOW None 0.16733 0.16730 0.16992 None None None None None None DNAH10|0.023863488|72.27%

ELMSAN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs758773
dbSNP Clinvar 		74206658 59.25 G A LowQual 0|1 6 SYNONYMOUS_CODING LOW None 0.15296 0.15300 0.15001 None None None None None None ELMSAN1|0.126163876|46.42%

ENGASE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs56107536
dbSNP Clinvar 		77071040 75.15 C A LowQual 1|1 2 NON_SYNONYMOUS_CODING MODERATE None 0.16434 0.16430 0.08464 0.01 0.00 None None None None None None ENGASE|0.010702145|80.37%

ESPN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs753994746
dbSNP Clinvar 		6505836 56.09 CA... C LowQual 1|0 12 FRAME_SHIFT HIGH None None None None None None None ESPN|0.12858616|46.09%

FLJ00388
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs7543124
dbSNP Clinvar 		48227135 94.02 A G LowQual 1|1 2 SYNONYMOUS_CODING LOW None 0.69309 0.69310 None None None None None None TRABD2B|0.345220986|24.48%

FMN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2930131
dbSNP Clinvar 		33261232 99.66 G A LowQual 0|1 4 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.45191 None None None None None None FMN1|0.549093904|13.77%

GATAD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs10281879
dbSNP Clinvar 		92077203 60.25 G A LowQual 0|1 5 NON_SYNONYMOUS_CODING MODERATE None 0.08167 0.08167 0.77 0.00 None None None None None None GATAD1|0.193907944|37.42%

GJC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs746050475
dbSNP Clinvar 		228345912 62.11 CGAG C LowQual 1|0 11 CODON_DELETION MODERATE None None None None None None None GJC2|0.019765464|74.31%

GNRH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 20 rs16996832,rs763863070
dbSNP Clinvar 		3026345 88.09 A AG... LowQual 0|1 17 FRAME_SHIFT HIGH None 0.14557 0.14560 None None None None None None GNRH2|0.0055782|85.13%

GOLGA6L6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs766616886
dbSNP Clinvar 		20739843 34.1 CG... C LowQual 0|1 3 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24186 None None None None None None GOLGA6L6|0.001311756|93.81%

GPRIN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs72780221
dbSNP Clinvar 		47000217 85.17 G A LowQual 0|1 8 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.02 None None None None None None GPRIN2|0.008107767|82.54%

GSC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs34341950
dbSNP Clinvar 		19137658 31.85 G A LowQual 1|0 8 NON_SYNONYMOUS_CODING MODERATE None 0.36482 0.36480 0.05 0.88 None None None None None None GSC2|0.040109582|65.74%

GZMB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs1126639
dbSNP Clinvar 		25101548 99.68 G A LowQual 0|1 17 SYNONYMOUS_CODING LOW None 0.30232 0.30230 None None None None None None GZMB|0.006218713|84.38%

HCN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs113534512
dbSNP Clinvar 		590172 80.17 G A LowQual 0|1 4 NON_SYNONYMOUS_CODING MODERATE None 0.31769 0.31770 0.21 0.00 1.98 None None None None None None HCN2|0.016086187|76.44%

HLA-DRB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 rs200676666
dbSNP Clinvar 		32552056 52.84 AC A LowQual 1|0 1 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%

HP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs573073579
dbSNP Clinvar 		72093094 46.63 G GC... LowQual 0/1 1 None None None 0.03375 0.03375 0.01520 None None None None None None TXNL4B|0.328166529|25.59%,HP|0.097650604|51.59%,HPR|0.003632563|87.54%

HRH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 20 rs774754542
dbSNP Clinvar 		60794956 33.07 CCCG C LowQual 0|1 6 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HRH3|0.076197689|56.03%

HS1BP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs2305458
dbSNP Clinvar 		20824498 99.17 C T LowQual 1|0 12 NON_SYNONYMOUS_CODING MODERATE None 0.38199 0.38200 0.49531 0.13 0.00 None None None None None None HS1BP3|0.009037808|81.62%

IRF2BPL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 . 77493830 45.3 CG... C LowQual 0|1 18 FRAME_SHIFT HIGH None None None None None None None IRF2BPL|0.111861784|48.88%

IRF7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 rs1131665
dbSNP Clinvar 		613208 91.2 T C LowQual 1|0 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27556 0.27560 0.36142 1.00 0.00 -2.97 None None None None None None IRF7|0.021937375|73.21%

KAT8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs17855606
dbSNP Clinvar 		31142271 31.94 A G LowQual 1|0 2 NON_SYNONYMOUS_CODING MODERATE None 0.11661 0.11660 0.23248 0.01 0.00 None None None None None None KAT8|0.487697621|16.42%

KCNK12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs2278139
dbSNP Clinvar 		47748292 45.01 A G LowQual 1|0 4 SYNONYMOUS_CODING LOW None 0.59185 0.59190 None None None None None None MSH2|0.976967025|1.57%,KCNK12|0.165979007|40.81%

KIR2DL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs77397437
dbSNP Clinvar 		55286864 84.22 A C LowQual 0|1 20 SYNONYMOUS_CODING LOW None 0.16633 0.16630 0.14018 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%,KIR2DL1|0.000975472|95.6%

KRTAP10-6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 21 rs782703375
dbSNP Clinvar 		46012351 74.13 G A LowQual 1|0 19 SYNONYMOUS_CODING LOW None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 21 rs201582050
dbSNP Clinvar 		46012345 75.33 G A LowQual 1|0 20 SYNONYMOUS_CODING LOW None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%

LCNL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs17578859
dbSNP Clinvar 		139879170 70.46 G A LowQual 1|0 3 NON_SYNONYMOUS_CODING MODERATE None 0.23023 0.23020 0.22363 0.02 0.82 None None None None None None PTGDS|0.006824526|83.66%,LCNL1|0.001929992|91.17%

LONP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 . 5692009 91.24 C CT... LowQual 0|1 8 None None None None None None None None None LONP1|0.337568028|24.99%

LPPR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs3746137
dbSNP Clinvar 		812801 69.17 C G LowQual 1|0 2 SYNONYMOUS_CODING LOW None 0.06210 0.06210 None None None None None None None

LTBP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 . 65308654 62.17 G A LowQual 0|1 29 SYNONYMOUS_CODING LOW None None None None None None None LTBP3|0.150450065|42.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 . 65308618 85.93 G T LowQual 0|1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None LTBP3|0.150450065|42.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 . 65308625 82.73 T A LowQual 0|1 22 NON_SYNONYMOUS_CODING MODERATE None 0.02 1.00 None None None None None None LTBP3|0.150450065|42.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 . 65308632 71.09 TGG T LowQual 0/1 22 FRAME_SHIFT HIGH None None None None None None None LTBP3|0.150450065|42.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 . 65308637 82.93 G T LowQual 1|0 22 SYNONYMOUS_CODING LOW None None None None None None None LTBP3|0.150450065|42.94%

MARVELD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs11189342
dbSNP Clinvar 		99473666 59.56 C G LowQual 1|1 3 SYNONYMOUS_CODING LOW None 0.46346 0.46350 None None None None None None MARVELD1|0.205027018|36.12%

MBD6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 12 . 57919555 58.27 A G LowQual 1|0 16 SYNONYMOUS_CODING LOW None None None None None None None MBD6|0.227452607|33.61%

MCUR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 rs12206286
dbSNP Clinvar 		13814338 93.41 G A LowQual 1|0 4 SYNONYMOUS_CODING LOW None 0.06130 0.06130 1.63 0.16 0.84184 D None None None None MCUR1|0.038067965|66.42%

MICAL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 rs2277113
dbSNP Clinvar 		109775436 68.72 T C LowQual 1|0 8 SYNONYMOUS_CODING LOW None 0.55371 0.55370 0.46496 None None None None None None MICAL1|0.060557451|59.71%

MICALCL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 rs3812754
dbSNP Clinvar 		12316389 64.57 A C LowQual 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.29453 0.29450 0.41535 0.13 0.00 None None None None None None MICALCL|0.003201698|88.32%

MOV10L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 . 50528609 30.25 C A LowQual 1|0 3 NON_SYNONYMOUS_CODING MODERATE None 0.78 0.01 None None None None None None MOV10L1|0.009014493|81.65%

MROH6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 8 rs7010602
dbSNP Clinvar 		144649550 90.46 A G LowQual 1|1 1 SYNONYMOUS_CODING LOW None 0.94529 0.94530 None None None None None None MROH6|0.001968165|91.08%

MRPS7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs6501772
dbSNP Clinvar 		73258479 80.01 C T LowQual 0|1 3 SYNONYMOUS_CODING LOW None 0.88878 0.88880 None None None None None None MRPS7|0.30443526|27.34%

MUC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 11 rs10794291
dbSNP Clinvar 		1094690 57.18 C T LowQual 0|1 4 SYNONYMOUS_CODING LOW None 0.75479 0.75480 0.40313 None None None None None None MUC2|0.013216618|78.34%

MUC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 3 rs80145081
dbSNP Clinvar 		195510732 56.93 G A LowQual 0|1 45 SYNONYMOUS_CODING LOW None 0.00739 0.00739 None None None None None None MUC4|0.005441696|85.29%

MYCBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs117722214
dbSNP Clinvar 		77900848 95.0 T A LowQual 0|1 5 SYNONYMOUS_CODING LOW None 0.05272 0.05272 None None None None None None MYCBP2|0.667579029|9.45%

MYO15A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 . 18024920 76.93 A C LowQual 0|1 11 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MYO15A|0.178183039|39.27%

MYPOP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs62111265
dbSNP Clinvar 		46394187 50.16 C T LowQual 1|0 3 SYNONYMOUS_CODING LOW None 0.12540 0.12540 0.12421 None None None None None None MYPOP|0.030982571|68.97%

NCOR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs78230791
dbSNP Clinvar 		16068343 56.69 G A LowQual 1|0 16 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs76780359
dbSNP Clinvar 		16068340 58.72 C T LowQual 1|0 16 NON_SYNONYMOUS_CODING MODERATE None 0.90 None None None None None None NCOR1|0.942283614|2.42%

NKX2-3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs779308945
dbSNP Clinvar 		101295274 56.15 GGGC G LowQual 1|0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None NKX2-3|0.201840964|36.55%

OBSCN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 . 228506585 34.31 TG T LowQual 1|0 2 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None OBSCN|0.023922951|72.24%

OTUD7A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2338681
dbSNP Clinvar 		31776021 73.17 T C LowQual 1|1 4 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.37 0.00 None None None None None None OTUD7A|0.076054445|56.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2338682
dbSNP Clinvar 		31776004 68.14 C G LowQual 1|1 4 SYNONYMOUS_CODING LOW None 0.79892 0.79890 None None None None None None OTUD7A|0.076054445|56.07%

PABPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 8 rs796192778
dbSNP Clinvar 		101721692 60.93 G A LowQual 1|0 24 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.25 None None None None None None PABPC1|0.793315578|6.01%

PAXIP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs753071824
dbSNP Clinvar 		154760692 96.88 CCTG C LowQual 0/1 19 CODON_DELETION MODERATE None 0.00772 None None None None None None PAXIP1|0.113569242|48.56%

PLIN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs7250947
dbSNP Clinvar 		4510530 85.0 G A LowQual 1|0 6 NON_SYNONYMOUS_CODING MODERATE None 0.06629 0.06629 0.09353 0.07 0.54 None None None None None None PLIN4|0.000829699|96.5%

PODN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs761072151
dbSNP Clinvar 		53527962 52.66 C T LowQual 0|1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.01 None None None None None None PODN|0.074105781|56.52%

PRB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 12 rs71455362
dbSNP Clinvar 		11420958 72.93 T C LowQual 1|0 7 SYNONYMOUS_CODING LOW None 0.04732 0.04732 0.03672 None None None None None None PRB3|0.000537603|98.24%

PRB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 12 rs12308381
dbSNP Clinvar 		11461706 87.8 G T LowQual 1|0 16 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.00 None None None None None None PRB4|0.000561665|98.11%

PRMT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 21 . 48069688 52.69 T G LowQual 0|1 14 None None None 0.34 0.00 None None None None None None PRMT2|0.03525369|67.43%

PSMD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2012
dbSNP Clinvar 		38154084 41.43 G C LowQual 1|0 3 None None None 0.17093 0.17090 0.00 None None None None None None PSMD3|0.535872634|14.38%

RADIL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs76862906
dbSNP Clinvar 		4874250 64.4 G A LowQual 1|0 3 SYNONYMOUS_CODING LOW None 0.08267 0.08267 None None None None None None RADIL|0.032989067|68.16%

RBM25
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs150988201
dbSNP Clinvar 		73572606 81.09 AAG A LowQual 1|0 39 FRAME_SHIFT HIGH None None None None None None None RBM25|0.767665851|6.67%

RHBG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs11586833
dbSNP Clinvar 		156347834 52.16 T A LowQual 1|0 5 NON_SYNONYMOUS_CODING MODERATE None 0.26637 0.26640 0.20878 0.00 0.82 None None None None None None RHBG|0.075793822|56.11%

RIN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 20 . 19955585 59.93 T G LowQual 1|0 15 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.99 None None None None None None RIN2|0.175081629|39.64%

RP11-383H13.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 8 rs35471181,rs397724107
dbSNP Clinvar 		72755647 33.88 C CT LowQual 1|0 6 FRAME_SHIFT HIGH None 0.28235 0.28230 None None None None None None MSC|0.158756898|41.76%

RTDR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs55964741
dbSNP Clinvar 		23401865 57.16 G T LowQual 1|0 13 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.01722 None None None None None None RSPH14|0.01273033|78.69%

SELO
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs6010201
dbSNP Clinvar 		50639636 50.53 C G LowQual 0|1 3 SYNONYMOUS_CODING LOW None 0.60783 0.60780 None None None None None None None

SKIDA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs201836118
dbSNP Clinvar 		21805480 76.68 T C LowQual 0|1 12 SYNONYMOUS_CODING LOW None None None None None None None SKIDA1|0.439515262|18.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs748390382
dbSNP Clinvar 		21805486 76.68 C T LowQual 0|1 13 SYNONYMOUS_CODING LOW None None None None None None None SKIDA1|0.439515262|18.69%

SOX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 . 112722862 38.31 TGGC T LowQual 1|0 4 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None SOX1|0.483654388|16.56%

SOX10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 . 38370185 60.16 T G LowQual 0|1 5 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.99 None None None None None None POLR2F|0.453573676|18%,SOX10|0.9286365|2.77%

SOX21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs772591603
dbSNP Clinvar 		95363806 97.12 CGCG C LowQual 0|1 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02052 None None None None None None SOX21|0.091353602|52.97%

SPATA5L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7182723
dbSNP Clinvar 		45695382 77.17 G A LowQual 0|1 5 NON_SYNONYMOUS_CODING MODERATE None 0.44968 0.44970 0.19548 0.03 0.62 None None None None None None SPATA5L1|0.046923134|63.62%

TAF4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 20 rs199804789
dbSNP Clinvar 		60639898 59.14 C A LowQual 1|0 2 SYNONYMOUS_CODING LOW None None None None None None None TAF4|0.088611939|53.52%

THEMIS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 rs9767314
dbSNP Clinvar 		128128374 37.11 G C LowQual 1|0 3 NON_SYNONYMOUS_CODING MODERATE None 0.12240 0.12240 0.00 0.00 None None None None None None THEMIS|0.155802392|42.17%

TMEM245
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs12001627
dbSNP Clinvar 		111882167 54.76 G C LowQual 1|0 10 NON_SYNONYMOUS_CODING MODERATE None 0.35184 0.35180 1.00 0.00 None None None None None None TMEM245|0.264913539|30.3%

TPRN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs9411313
dbSNP Clinvar 		140094605 40.93 C A LowQual 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.24381 0.24380 0.28 0.00 None None None None None None TPRN|0.005752289|84.93%

TRAF3IP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs12464423
dbSNP Clinvar 		239237953 39.4 G T LowQual 0|1 4 NON_SYNONYMOUS_CODING MODERATE None 0.20507 0.20510 0.23432 0.04 0.14 None None None None None None TRAF3IP1|0.015621639|76.7%

TRIOBP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 . 38122255 95.93 G C LowQual 0|1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None TRIOBP|0.083019472|54.57%

TSPAN10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 . 79615291 60.53 C A LowQual 1|0 2 NON_SYNONYMOUS_CODING MODERATE None None None None None None None NPLOC4|0.127760741|46.21%,TSPAN10|0.001817218|91.48%