+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
RBM6,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 131
Number of Genes: 1

Export to: CSV
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 combined sample_50.variant14 7 rs71074666
dbSNP Clinvar 		83098714 852.98 CTTT C,... PASS 3/3 10 None None None 0.00140 0.00000 None None None None None None SEMA3E|0.36164343|23.33%
View combined sample_50.variant14 7 rs200396435,rs531376380
dbSNP Clinvar 		138453892 933.51 GAAA GA... PASS 3/3 37 None None None 0.09645 None None None None None None ATP6V0A4|0.084008171|54.41%
View combined sample_50.variant14 7 rs777311253
dbSNP Clinvar 		150327234 781.72 CA... CA... PASS 3/3 18 None None None None None None None None None GIMAP6|0.000963002|95.71%
View combined sample_50.variant14 9 . 33043990 3139.9 TA... TA... PASS 3/3 79 None None None None None None None None None SMU1|0.574271634|12.83%
View combined sample_50.variant14 10 . 92672048 314.54 TA... TA... PASS 3/3 35 None None None None None None None None None ANKRD1|0.375758485|22.32%
View combined sample_50.variant14 10 . 114185353 45.6 TAA TA... PASS 3/3 3 None None None None None None None None None ACSL5|0.090893632|53.06%
View combined sample_50.variant14 10 rs782325219
dbSNP Clinvar 		118466662 1358.46 GC... GC... PASS 3/3 23 None None None None None None None None None HSPA12A|0.32170374|26.03%
View combined sample_50.variant14 11 . 118036178 103.99 CT... C,... PASS 3/3 7 None None None None None None None None None SCN2B|0.19363982|37.45%
View combined sample_50.variant14 12 . 63359803 240.5 TA TA... PASS 3/3 10 None None None None None None None None None None
View combined sample_50.variant14 12 . 102063901 1103.65 CC... CC... PASS 3/3 21 None None None None None None None None None MYBPC1|0.380233302|22.03%
View combined sample_50.variant14 13 rs755167028
dbSNP Clinvar 		76412589 496.38 TAAA T,... PASS 3/3 11 None None None None None None None None None LMO7|0.14518442|43.69%
View combined sample_50.variant14 13 rs752967645
dbSNP Clinvar 		76447950 128.7 CT... CT... PASS 3/3 5 None None None None None None None None None LMO7DN|0.000900221|96.02%
View combined sample_50.variant14 14 . 23281982 86.65 CT... CT... PASS 3/3 3 None None None None None None None None None SLC7A7|0.311807291|26.7%
View combined sample_50.variant14 15 . 42622968 121.82 CT... CT... PASS 3/3 8 None None None None None None None None None GANC|0.071251222|57.16%
View combined sample_50.variant14 15 . 59913070 130.65 CTTTT CT... PASS 3/3 8 None None None None None None None None None GCNT3|0.055622139|61.04%
View combined sample_50.variant14 16 . 20708878 322.51 TA... TA... PASS 3/3 24 None None None None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View combined sample_50.variant14 16 . 21994284 110.83 CAA C,... PASS 3/3 6 None None None None None None None None None UQCRC2|0.300516158|27.63%
View combined sample_50.variant14 16 rs71389676,rs59287517
dbSNP Clinvar 		71599604 1021.04 G GC... PASS 3/3 56 None None None 0.27756 0.27760 None None None None None None TAT|0.948524499|2.29%
View combined sample_50.variant14 17 rs745938905
dbSNP Clinvar 		2588916 129.02 AT... AT... PASS 3/3 3 None None None None None None None None None None
View combined sample_50.variant14 17 rs371115974
dbSNP Clinvar 		5116303 365.43 C CT... PASS 3/3 1 None None None None None None None None None SCIMP|0.003653107|87.51%
View combined sample_50.variant14 17 rs374602514
dbSNP Clinvar 		14252807 252.62 G GC... PASS 3/3 46 None None None 0.72804 0.72800 None None None None None None None
View combined sample_50.variant14 18 . 59475620 57.75 TAA TA... PASS 3/3 10 None None None None None None None None None RNF152|0.214748923|35.04%
View combined sample_50.variant14 18 rs199932125
dbSNP Clinvar 		41559193 1246.65 GT... G,... PASS 3/3 22 None None None None None None None None None None
View combined sample_50.variant14 18 rs201936844,rs55849071
dbSNP Clinvar 		67515009 1113.28 A T,... PASS 3/3 5 None None None 0.56190 0.88300 None None None None None None DOK6|0.414097507|19.92%,CD226|0.|85.1%
View combined sample_50.variant14 19 . 6470631 102.35 GT GT... PASS 3/3 8 None None None None None None None None None DENND1C|0.016969312|75.88%
View combined sample_50.variant14 19 rs760662320
dbSNP Clinvar 		54105521 836.94 GG... G,... PASS 3/3 34 None None None None None None None None None None
View combined sample_50.variant14 20 . 42225376 59.69 CT... CT... PASS 3/3 5 None None None None None None None None None IFT52|0.386520609|21.64%
View combined sample_50.variant14 21 rs574050191
dbSNP Clinvar 		18816599 152.48 CT CT... PASS 3/3 3 None None None 0.05391 0.05391 None None None None None None LINC01549|0.001582759|92.4%
View combined sample_50.variant14 22 rs768960142
dbSNP Clinvar 		29313256 306.74 AA... AA... PASS 3/3 13 None None None None None None None None None ZNRF3|0.247803411|31.75%
View combined sample_50.variant14 X . 131337534 596.86 TG... TG... PASS 3/3 25 None None None None None None None None None RAP2C|0.675911259|9.2%
View combined sample_50.variant14 X . 144902643 225.21 TCACA TC... PASS 3/3 4 None None None None None None None None None SLITRK2|0.374195221|22.45%