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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASP6_chr4_109683628_109708445 | 109705997 | A | ATATAT | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01167.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0061 others(1): Show |
4 | 336 | 0.0119 | 5 | c.-26 others(16): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2553 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687827 | T | TCTTTC | intron_variant | MODIFIER | HG01361.hp2 NA19006.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0064 a0001c0001t0005g0065 a0001c0001t0005g0067 |
3 | 395 | 0.0076 | 5 | c.-1+ others(20): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687850 | C | CTTTCT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0292 a0001c0001t0004g0070 a0001c0001t0004g0071 others(19): Show |
23 | 390 | 0.0590 | 5 | c.-1+ others(20): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687908 | C | CTTTCT | intron_variant | MODIFIER | HG02647.hp2 HG03239.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0002c0006t0001 | a0001c0001t0003g0177 a0001c0001t0003g0179 a0002c0006t0001g0110 others(1): Show |
4 | 245 | 0.0163 | 5 | c.-1+ others(20): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15491928 | C | CAGGGG | 3_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0009 | a0001c0003t0004g0249 a0001c0003t0004g0250 a0001c0003t0004g0251 others(2): Show |
6 | 348 | 0.0172 | 5 | c.*10 others(16): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 9/9 | 1014 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761429 | G | GGGCAA | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03486.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0007a0002c0004t0011 | a0002c0003t0007g0023 a0002c0003t0007g0024 a0002c0004t0011g0015 |
3 | 356 | 0.0084 | 5 | c.234 others(22): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAG | intron_variant | MODIFIER | HG00558.hp2 HG02258.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0003 | a0001c0001t0004g0062 a0001c0002t0001g0058 a0001c0002t0003g0042 |
3 | 45 | 0.0667 | 5 | c.234 others(22): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122259628 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01106.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0010a0001c0001t0022a0001c0001t0023others(6): Show | a0001c0001t0010g0238 a0001c0001t0010g0302 a0001c0001t0010g0303 others(14): Show |
18 | 79 | 0.2278 | 5 | c.493 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122269842 | A | ATTGTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(65): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0004c0003others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0020 others(62): Show |
68 | 312 | 0.2179 | 5 | c.137 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74969281 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0033a0001c0002t0086a0002c0004t0032 | a0001c0002t0033g0179 a0001c0002t0033g0181 a0001c0002t0086g0184 others(2): Show |
5 | 192 | 0.0260 | 5 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96722934 | G | GTTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(37): Show |
47 | 353 | 0.1331 | 5 | c.270 others(20): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10686149 | G | GTCCTC | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0012a0002c0007others(5): Show | a0001c0003t0002a0001c0003t0006a0001c0012t0001others(6): Show | a0001c0003t0002g0050 a0001c0003t0002g0057 a0001c0003t0002g0207 others(13): Show |
16 | 234 | 0.0684 | 5 | c.16+ others(20): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10747205 | C | CTAAGG | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG03225.hp1 others(3): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0026others(3): Show | a0001c0001t0001g0077 a0001c0002t0001g0116 a0001c0002t0026g0001 others(3): Show |
6 | 234 | 0.0256 | 5 | c.-77 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10752894 | G | GGGTGT | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG03098.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0026others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0002others(2): Show | a0001c0002t0001g0065 a0001c0002t0004g0069 a0001c0003t0002g0207 others(2): Show |
5 | 234 | 0.0214 | 5 | c.-77 others(22): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10758329 | T | TCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0115 others(78): Show |
81 | 226 | 0.3584 | 5 | c.-77 others(22): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10792320 | C | CCCCCT | intron_variant | MODIFIER | HG00438.hp1 HG01358.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0003g0030 others(5): Show |
8 | 233 | 0.0343 | 5 | c.-23 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66012684 | A | ACCCCC | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01978.hp2 others(13): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0028 others(11): Show |
16 | 80 | 0.2000 | 5 | c.*42 others(16): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 4067 | chr11 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66022332 | C | CTAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01192.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0119 |
3 | 406 | 0.0074 | 5 | c.143 others(22): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCT | intron_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02970.hp2 others(4): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0002a0002c0008t0002 | a0002c0002t0002g0013 a0002c0002t0002g0143 a0002c0002t0002g0174 others(1): Show |
7 | 212 | 0.0330 | 5 | c.842 others(20): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPER3_chr5_134962907_135016696 | 134975395 | C | CAAACA | intron_variant | MODIFIER | NA18972.hp1 NA19000.hp2 NA19082.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0003t0001g0130 |
4 | 378 | 0.0106 | 5 | c.252 others(22): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26186475 | G | GTTTGT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02922.hp1 others(1): Show |
a0007a0010 | a0007c0012a0010c0018 | a0007c0012t0001a0010c0018t0001 | a0007c0012t0001g0028 a0007c0012t0001g0064 a0010c0018t0001g0043 |
4 | 396 | 0.0101 | 5 | c.-41 others(16): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4126 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91599545 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01243.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(9): Show |
12 | 59 | 0.2034 | 5 | c.271 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 22/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTT | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02572.hp1 others(4): Show |
a0001a0006a0008others(3): Show | a0001c0001a0006c0007a0008c0010others(3): Show | a0001c0001t0001a0006c0007t0001a0008c0010t0001others(3): Show | a0001c0001t0001g0001 a0006c0007t0001g0028 a0008c0010t0001g0032 others(4): Show |
7 | 60 | 0.1167 | 5 | c.276 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp1 others(18): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0003a0005c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0004c0003t0001others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0099 others(18): Show |
21 | 104 | 0.2019 | 5 | c.150 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5780533 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(116): Show |
a0001a0003a0004others(15): Show | a0001c0001a0003c0004a0003c0005others(21): Show | a0001c0001t0002a0003c0004t0001a0003c0004t0003others(23): Show | a0001c0001t0002g0026 a0001c0001t0002g0293 a0003c0004t0001g0023 others(116): Show |
119 | 320 | 0.3719 | 5 | c.*18 others(16): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 1800 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244562153 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01891.hp2 others(6): Show |
a0001a0008a0011 | a0001c0001a0001c0002a0008c0024others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0003g0155 a0001c0002t0001g0046 a0001c0002t0002g0007 others(6): Show |
9 | 18 | 0.5000 | 5 | c.150 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244573412 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG01496.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0002g0002 others(25): Show |
28 | 165 | 0.1697 | 5 | c.195 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621312 | T | TCTATA | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0097 |
2 | 200 | 0.0100 | 5 | c.264 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01516.hp1 HG01891.hp2 others(16): Show |
a0001a0010a0011 | a0001c0001a0001c0002a0010c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0020 a0001c0001t0002g0025 a0001c0001t0002g0051 others(16): Show |
19 | 20 | 0.9500 | 5 | c.264 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625402 | T | TTAATA | intron_variant | MODIFIER | HG03710.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0072 a0001c0001t0004g0157 |
2 | 201 | 0.0100 | 5 | c.264 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38333285 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp2 others(38): Show |
a0002a0006a0007 | a0002c0003a0006c0011a0007c0010 | a0002c0003t0001a0006c0011t0001a0007c0010t0001 | a0002c0003t0001g0013 a0002c0003t0001g0071 a0002c0003t0001g0072 others(37): Show |
41 | 210 | 0.1952 | 5 | c.-26 others(16): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2544 | chr19 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38344902 | T | TATATA | intron_variant | MODIFIER | HG02886.hp1 NA18980.hp1 NA19011.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0219 a0004c0006t0001g0010 |
3 | 350 | 0.0086 | 5 | c.669 others(20): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | chr19 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38372981 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(49): Show |
a0001 | a0001c0005a0001c0008a0001c0013others(2): Show | a0001c0005t0001a0001c0008t0001a0001c0013t0001others(2): Show | a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0005t0001g0015 others(44): Show |
52 | 275 | 0.1891 | 5 | c.*21 others(16): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2039 | chr19 | TogoVar | |||||||
CAT_chr11_34433934_34477060 | 34445495 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0034 others(5): Show |
11 | 148 | 0.0743 | 5 | c.67- others(20): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116533348 | T | TAAATA | intron_variant | MODIFIER | HG03453.hp2 NA18522.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0002t0001g0200 |
3 | 80 | 0.0375 | 5 | c.195 others(22): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8744275 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0086 a0001c0003t0003g0092 a0001c0003t0003g0159 others(3): Show |
15 | 364 | 0.0412 | 5 | c.115 others(22): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42405692 | T | TTTTTG | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0026 a0001c0001t0001g0142 a0001c0001t0001g0156 others(3): Show |
7 | 207 | 0.0338 | 5 | c.472 others(20): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42412560 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00735.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0145 others(28): Show |
31 | 52 | 0.5962 | 5 | c.472 others(22): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(48): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(43): Show |
51 | 119 | 0.4286 | 5 | c.472 others(22): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42417459 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 NA18964.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0194 a0001c0001t0004g0129 a0001c0001t0004g0131 others(3): Show |
6 | 28 | 0.2143 | 5 | c.471 others(22): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33501630 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01123.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0093 a0001c0001t0003g0109 a0001c0001t0003g0110 others(24): Show |
27 | 40 | 0.6750 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544940 | T | TAGAAC | intron_variant | MODIFIER | HG01891.hp2 HG02738.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0018 | a0001c0001t0004g0061 a0001c0001t0015g0015 a0001c0001t0018g0099 |
3 | 295 | 0.0102 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544945 | C | CAGAAT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 others(10): Show |
13 | 66 | 0.1970 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545010 | T | TAGAAC | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 others(9): Show |
12 | 246 | 0.0488 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545015 | C | CAGAAA | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0030a0001c0006t0007a0001c0010t0028 | a0001c0001t0030g0001 a0001c0006t0007g0282 a0001c0010t0028g0132 |
3 | 296 | 0.0101 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545020 | C | CAGAAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0003g0071 a0001c0001t0003g0083 a0001c0001t0003g0084 others(75): Show |
78 | 213 | 0.3662 | 5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888503 | A | AGGGGT | intron_variant | MODIFIER | NA19004.hp2 NA19005.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233 |
3 | 270 | 0.0111 | 5 | c.712 others(22): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105705045 | C | CCTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(174): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(23): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0043 others(174): Show |
177 | 378 | 0.4683 | 5 | c.140 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 10/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105786061 | C | CGGGGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(10): Show | a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0192 others(41): Show |
44 | 170 | 0.2588 | 5 | c.420 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105806479 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01256.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0078 others(10): Show |
13 | 20 | 0.6500 | 5 | c.420 others(24): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar |