regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSB_chr5_78772209_78990310 | 78968315 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02735.hp2 others(1): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0003c0014 | a0001c0007t0077a0002c0002t0003a0002c0002t0025others(1): Show | a0001c0007t0077g0070a0002c0002t0003g0336a0002c0002t0025g0213others(1): Show | 4 | 360 | 0.0111 | -9 | c.499 others(24): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
ARSD_chrX_2898972_2934339 | 2900252 | GTTTTTTT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0228 | 1 | 344 | 0.0029 | -9 | c.*70 others(20): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 3719 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036771 | ATTATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02647.hp1 HG02698.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0062others(9): Show | 12 | 193 | 0.0622 | -9 | c.-49 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4699 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036779 | TTTTATAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0075others(5): Show | 9 | 193 | 0.0466 | -9 | c.-49 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4691 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3045869 | TTTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0003 | a0001c0002t0001g0184a0001c0002t0001g0185a0001c0002t0001g0186others(3): Show | 6 | 193 | 0.0311 | -9 | c.-29 others(26): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSF_chrX_3036471_3117727 | 3056275 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 193 | 0.0052 | -9 | c.-28 others(28): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68333631 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00642.hp1 others(60): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0048others(60): Show | 63 | 304 | 0.2072 | -9 | c.219 others(26): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68374344 | CCAGAAGG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(132): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(34): Show | a0001c0001t0001g0017a0001c0001t0001g0076a0001c0001t0001g0158others(132): Show | 135 | 304 | 0.4441 | -9 | c.982 others(26): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3004206 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0203 | 1 | 248 | 0.0040 | -9 | c.-24 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2339 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012569 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0228 | 1 | 248 | 0.0040 | -9 | c.215 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3020274 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0001a0002c0004t0002a0002c0006t0002 | a0001c0001t0001g0034a0001c0001t0001g0043a0002c0004t0002g0217others(2): Show | 5 | 248 | 0.0202 | -9 | c.901 others(26): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3031763 | TTTTTTGT others(2): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 248 | 0.0040 | -9 | c.132 others(28): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3036771 | ATTATATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02647.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0031a0001c0001t0001g0039others(6): Show | 10 | 248 | 0.0403 | -9 | c.*33 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2661 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036779 | TTTTATAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0021others(8): Show | 11 | 248 | 0.0444 | -9 | c.*33 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2669 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036818 | TTATATAT others(2): Show |
T | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 248 | 0.0040 | -9 | c.*34 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2708 | chrX | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2946322 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
a0001a0002a0009 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(70): Show | 78 | 328 | 0.2378 | -9 | c.855 others(24): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 6/10 | chrX | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0123a0001c0001t0001g0157a0001c0001t0001g0167others(1): Show | 8 | 402 | 0.0199 | -9 | c.175 others(26): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARVCF_chr22_19964896_20021823 | 19986766 | CGTCCATC others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0007 | a0007c0010 | a0007c0010t0010 | a0007c0010t0010g0035a0007c0010t0010g0143a0007c0010t0010g0144 | 4 | 374 | 0.0107 | -9 | c.210 others(26): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25006861 | TCGGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 300 | 0.0033 | -9 | c.144 others(26): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp2 HG01255.hp1 others(10): Show |
a0012a0025a0026others(4): Show | a0012c0011a0012c0052a0025c0046others(7): Show | a0012c0011t0005a0012c0011t0019a0012c0011t0066others(9): Show | a0012c0011t0005g0122a0012c0011t0005g0144a0012c0011t0019g0126others(10): Show | 13 | 193 | 0.0674 | -9 | c.231 others(16): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1357/10667 | 231/2763 | 77/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(5): Show |
a0025a0029a0030others(2): Show | a0025c0046a0025c0049a0029c0026others(3): Show | a0025c0046t0005a0025c0049t0052a0029c0026t0041others(5): Show | a0025c0046t0005g0132a0025c0049t0052g0009a0029c0026t0041g0146others(5): Show | 8 | 193 | 0.0415 | -9 | c.141 others(18): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2538/10667 | 1412/2763 | 471/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AR_chrX_67539021_67735619 | 67633985 | AGTAATAG others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0016 | a0016c0024 | a0016c0024t0010 | a0016c0024t0010g0115 | 1 | 193 | 0.0052 | -9 | c.161 others(28): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871546 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02647.hp2 NA18941.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0159a0001c0001t0002g0160a0001c0001t0003g0005others(5): Show | 8 | 362 | 0.0221 | -9 | c.171 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01934.hp1 HG01943.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0001g0206a0001c0001t0001g0236a0001c0001t0001g0259others(11): Show | 14 | 362 | 0.0387 | -9 | c.886 others(26): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130071000 | AGGGGAGG others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02615.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0002g0057a0001c0001t0008g0011a0001c0001t0012g0295others(1): Show | 4 | 308 | 0.0130 | -9 | c.270 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0002c0002t0001g0061a0002c0002t0003g0055a0002c0002t0003g0082others(50): Show | 53 | 308 | 0.1721 | -9 | c.240 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAGAGAG others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0163a0001c0001t0001g0167others(15): Show | 18 | 308 | 0.0584 | -9 | c.187 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(4): Show | a0001c0001t0001g0051a0001c0001t0001g0167a0001c0001t0001g0228others(10): Show | 13 | 308 | 0.0422 | -9 | c.187 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130376903 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0005t0007a0001c0006t0005 | a0001c0005t0005g0285a0001c0005t0007g0002a0001c0005t0007g0003others(3): Show | 6 | 308 | 0.0195 | -9 | c.60- others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0003a0001c0006a0001c0007 | a0001c0003t0001a0001c0006t0004a0001c0007t0004 | a0001c0003t0001g0165a0001c0006t0004g0014a0001c0006t0004g0018others(7): Show | 10 | 210 | 0.0476 | -9 | c.268 others(28): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASB13_chr10_5633867_5671595 | 5662628 | GAAGAGAA others(2): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0319a0001c0001t0002g0320a0001c0001t0006g0318others(1): Show | 4 | 446 | 0.0090 | -9 | c.43+ others(24): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236268195 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0059a0001c0001t0001g0060others(92): Show | 97 | 250 | 0.3880 | -9 | c.-38 others(20): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3790 | chr2 | TogoVar | ||||||
ASB3_chr2_53664980_53791953 | 53695651 | ATAATGCC others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01261.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0141others(22): Show | 25 | 350 | 0.0714 | -9 | c.123 others(28): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 NA18973.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0007 | a0001c0001t0001g0114a0002c0002t0004g0205a0002c0002t0007g0203 | 3 | 216 | 0.0139 | -9 | c.-20 others(20): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29785893 | ACTACCAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(368): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0011a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0187others(345): Show | 371 | 372 | 0.9973 | -9 | c.*31 others(20): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 2717 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100568752 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG03225.hp1 others(3): Show |
a0001a0019 | a0001c0001a0019c0016 | a0001c0001t0001a0001c0001t0002a0019c0016t0002 | a0001c0001t0001g0208a0001c0001t0001g0265a0001c0001t0001g0266others(3): Show | 6 | 314 | 0.0191 | -9 | c.555 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608216 | ATATATAC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(97): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0019a0001c0020others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0290a0001c0002t0002g0083a0001c0002t0002g0084others(97): Show | 100 | 314 | 0.3185 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608595 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201a0001c0002t0001g0202a0001c0002t0001g0203others(3): Show | 6 | 314 | 0.0191 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608631 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02132.hp1 NA18945.hp1 NA18955.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0174a0003c0004t0004g0178a0003c0004t0004g0195others(1): Show | 4 | 314 | 0.0127 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608659 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 NA18747.hp2 others(5): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0004 | a0002c0003t0002g0010a0002c0003t0002g0016a0003c0004t0004g0173others(5): Show | 8 | 314 | 0.0255 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608679 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0204a0001c0002t0001g0205a0003c0004t0001g0209 | 3 | 314 | 0.0096 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100723893 | TATATTTA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01168.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0131a0003c0005t0002g0148a0003c0005t0002g0149others(3): Show | 6 | 314 | 0.0191 | -9 | c.190 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100850540 | ACACCAGA others(2): Show |
A | intron_variant | MODIFIER | NA19058.hp1 NA19078.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0265a0001c0001t0001g0266 | 3 | 314 | 0.0096 | -9 | c.242 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 3/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102958393 | CGCAGCAG others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG01168.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0003a0007c0008t0023 | a0007c0008t0003g0001a0007c0008t0023g0001 | 4 | 354 | 0.0113 | -9 | c.178 others(16): Show |
p.Gln others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 749/2481 | 178/711 | 60/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ASCL1_chr12_102952674_102965513 | 102962454 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01256.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0003a0007c0008t0003 | a0001c0001t0003g0001a0007c0008t0003g0001 | 12 | 354 | 0.0339 | -9 | c.*31 others(20): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1942 | chr12 | TogoVar | ||||||
ASCL4_chr12_107769704_107781644 | 107773043 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0000a0001c0001t0003g0000a0001c0001t0005g0000others(3): Show | 52 | 462 | 0.1126 | -9 | c.-21 others(20): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | ||||||
ASF1A_chr6_118889152_118914171 | 118894980 | AGCGACCC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 7 | 400 | 0.0175 | -9 | c.109 others(24): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ASGR1_chr17_7168431_7184370 | 7181824 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0026others(4): Show | 16 | 442 | 0.0362 | -9 | c.-26 others(20): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 2455 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33032440 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG03834.hp1 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0013a0002c0003t0001 | a0001c0001t0007g0230a0001c0001t0007g0233a0001c0001t0013g0016others(2): Show | 5 | 240 | 0.0208 | -9 | c.988 others(26): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66074720 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0010a0001c0001t0003g0001a0001c0001t0003g0005others(17): Show | 42 | 316 | 0.1329 | -9 | c.-11 others(20): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1098 | chr7 | TogoVar |