view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN6_chrX_111240099_111275483 | 111269189 | TTAG | T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 242 | 0.0041 | -3 | c.-16 others(20): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/12 | chrX | TogoVar | |||||||
CAPN6_chrX_111240099_111275483 | 111270389 | CCTG | C | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02257.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 a0002c0002t0002g0033 a0002c0002t0002g0131 others(5): Show |
12 | 242 | 0.0496 | -3 | c.-37 others(10): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15221346 | ATTT | A | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0004g0044 a0001c0001t0005g0035 a0001c0001t0005g0270 others(6): Show |
9 | 376 | 0.0239 | -3 | c.638 others(18): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15229561 | CTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01192.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0056 others(5): Show |
9 | 376 | 0.0239 | -3 | c.938 others(18): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230746265 | CTTT | C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0048 a0001c0002t0001g0083 a0001c0002t0001g0084 others(37): Show |
40 | 394 | 0.1015 | -3 | c.-12 others(14): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1122 | chr1 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230751594 | AAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(49): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0178 others(49): Show |
52 | 394 | 0.1320 | -3 | c.214 others(20): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230754639 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00735.hp1 others(101): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0048 a0001c0002t0001g0319 a0001c0002t0001g0345 others(101): Show |
104 | 394 | 0.2640 | -3 | c.214 others(18): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230774739 | CTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01243.hp2 others(17): Show |
a0003a0004a0022 | a0003c0004a0004c0007a0022c0024 | a0003c0004t0001a0003c0004t0002a0004c0007t0001others(3): Show | a0003c0004t0001g0044 a0003c0004t0001g0051 a0003c0004t0001g0052 others(17): Show |
20 | 394 | 0.0508 | -3 | c.953 others(18): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230789473 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp1 HG01256.hp1 others(12): Show |
a0002a0004a0010others(1): Show | a0002c0006a0002c0009a0004c0007others(2): Show | a0002c0006t0001a0002c0009t0001a0004c0007t0001others(2): Show | a0002c0006t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0022 others(12): Show |
15 | 394 | 0.0381 | -3 | c.160 others(20): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230800228 | AAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01175.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0013others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0013t0001others(2): Show | a0001c0002t0001g0305 a0001c0003t0001g0016 a0001c0003t0001g0282 others(12): Show |
15 | 394 | 0.0381 | -3 | c.204 others(22): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36143697 | CAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0066 others(5): Show |
9 | 480 | 0.0188 | -3 | c.456 others(18): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAPNS2_chr16_55561684_55572687 | 55565061 | ATCT | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02698.hp1 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 412 | 0.0121 | -3 | c.-16 others(14): Show |
CAPNS2 | ENSG00000256812.2 | transcript | ENST00000457326.3 | protein_coding | 1622 | chr16 | TogoVar | |||||||
CAPNS2_chr16_55561684_55572687 | 55565205 | TAAC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(109): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0000 a0003c0004t0001g0000 |
112 | 412 | 0.2718 | -3 | c.-15 others(14): Show |
CAPNS2 | ENSG00000256812.2 | transcript | ENST00000457326.3 | protein_coding | 1478 | chr16 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34049828 | CCTA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01109.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(32): Show |
35 | 246 | 0.1423 | -3 | c.-20 others(14): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1902 | chr11 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34060990 | CTTG | C | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 others(3): Show |
6 | 246 | 0.0244 | -3 | c.216 others(20): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34066714 | GGCT | G | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 others(3): Show |
6 | 246 | 0.0244 | -3 | c.217 others(20): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | chr11 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34089261 | ACTC | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0029others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(42): Show |
45 | 246 | 0.1829 | -3 | c.123 others(20): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34089283 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(76): Show |
84 | 246 | 0.3415 | -3 | c.123 others(18): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34102377 | GGTT | G | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 others(3): Show |
6 | 246 | 0.0244 | -3 | c.*30 others(14): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 19/19 | 3014 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00741.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0016others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(26): Show |
31 | 246 | 0.1260 | -3 | c.*43 others(14): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30712231 | AGTG | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0009a0002c0005 | a0001c0009t0001a0002c0005t0001 | a0001c0009t0001g0222 a0001c0009t0001g0223 a0001c0009t0001g0225 others(6): Show |
9 | 378 | 0.0238 | -3 | c.250 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 17/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30714581 | ATTC | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00738.hp2 others(51): Show |
a0002a0003 | a0002c0002a0002c0006a0002c0011others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0006t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0015 others(36): Show |
54 | 378 | 0.1429 | -3 | c.240 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 16/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30722439 | AACT | A | intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG01891.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 others(13): Show |
20 | 378 | 0.0529 | -3 | c.180 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 12/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30727584 | ATAG | A | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 NA18522.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0041 |
4 | 378 | 0.0106 | -3 | c.153 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 9/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30746131 | AAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(162): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0005t0001others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0014 others(116): Show |
165 | 378 | 0.4365 | -3 | c.240 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751909 | ATTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG03139.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0001 | a0002c0002t0002g0286 a0002c0005t0001g0226 a0002c0005t0001g0227 others(3): Show |
6 | 378 | 0.0159 | -3 | c.178 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30754074 | CACA | C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01106.hp2 others(14): Show |
a0002a0004a0005 | a0002c0002a0004c0007a0005c0008 | a0002c0002t0002a0004c0007t0002a0005c0008t0002 | a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 others(14): Show |
17 | 378 | 0.0450 | -3 | c.-39 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 1/18 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75286148 | AAAT | A | intron_variant | MODIFIER | NA18944.hp1 NA18948.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 |
3 | 370 | 0.0081 | -3 | c.128 others(22): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75300555 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(51): Show |
69 | 370 | 0.1865 | -3 | c.666 others(18): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 8/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75330286 | ACCT | A | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02056.hp2 HG02965.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0033a0001c0003t0031a0001c0003t0032others(1): Show | a0001c0001t0033g0329 a0001c0003t0031g0327 a0001c0003t0032g0328 others(2): Show |
5 | 370 | 0.0135 | -3 | c.-45 others(12): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 1/17 | 3789 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35922071 | GAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0188 a0001c0001t0001g0238 others(84): Show |
110 | 402 | 0.2736 | -3 | c.1-9 others(14): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35925760 | GTCT | G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02572.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0053 a0002c0002t0003g0273 a0002c0002t0003g0274 others(6): Show |
10 | 402 | 0.0249 | -3 | c.1-4 others(16): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35929279 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(72): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(37): Show |
75 | 402 | 0.1866 | -3 | c.1-8 others(16): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
CAPS_chr19_5909254_5921211 | 5910675 | AAAC | A | upstream_gene_variant | MODIFIER | NA18975.hp1 NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 396 | 0.0076 | -3 | c.-36 others(14): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112618403 | TTTC | T | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0255 a0001c0003t0009g0256 a0001c0003t0009g0257 others(3): Show |
6 | 368 | 0.0163 | -3 | c.-14 others(14): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1428 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112620999 | TAAG | T | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0255 a0001c0003t0009g0256 a0001c0003t0009g0257 others(3): Show |
6 | 368 | 0.0163 | -3 | c.39+ others(18): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112642202 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(125): Show |
139 | 368 | 0.3777 | -3 | c.40- others(18): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112660876 | AAGG | A | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0255 a0001c0003t0009g0256 a0001c0003t0009g0257 others(3): Show |
6 | 368 | 0.0163 | -3 | c.585 others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112662904 | CTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(155): Show |
162 | 368 | 0.4402 | -3 | c.585 others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112676019 | TGGG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0311 others(64): Show |
71 | 368 | 0.1929 | -3 | c.*58 others(14): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 4404 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0214 a0001c0001t0002g0133 a0001c0001t0002g0137 others(26): Show |
29 | 354 | 0.0819 | -3 | c.40- others(18): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890509 | TAAA | T | intron_variant | MODIFIER | HG03710.hp1 NA18950.hp1 NA18966.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0023 | a0001c0001t0002g0149 a0001c0001t0002g0171 a0001c0001t0002g0173 others(5): Show |
8 | 354 | 0.0226 | -3 | c.103 others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116913769 | ATTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0002t0003g0018 a0001c0002t0005g0002 a0001c0002t0005g0085 others(11): Show |
15 | 354 | 0.0424 | -3 | c.657 others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116919868 | AAAT | A | 3_prime_UTR_variant | MODIFIER | HG02135.hp1 HG03239.hp1 HG03490.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0006a0001c0002t0040others(1): Show | a0001c0001t0012g0233 a0001c0001t0012g0247 a0001c0001t0012g0285 others(11): Show |
14 | 354 | 0.0396 | -3 | c.*20 others(14): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 10/10 | 2024 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19335610 | TAGA | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02630.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0081 others(5): Show |
8 | 364 | 0.0220 | -3 | c.*39 others(14): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3164 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19335612 | GACA | G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02132.hp1 HG03491.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0042 others(12): Show |
15 | 364 | 0.0412 | -3 | c.*39 others(14): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3162 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19340666 | TACA | T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0123 a0001c0001t0002g0288 others(2): Show |
5 | 364 | 0.0137 | -3 | c.732 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19341698 | TAAA | T | intron_variant | MODIFIER | HG03704.hp2 HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0184 a0001c0002t0001g0098 |
3 | 364 | 0.0082 | -3 | c.732 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19344947 | AGTC | A | intron_variant | MODIFIER | HG03704.hp2 HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0184 a0001c0002t0001g0098 |
3 | 364 | 0.0082 | -3 | c.654 others(18): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19359210 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(99): Show |
102 | 364 | 0.2802 | -3 | c.330 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar |