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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THADA_chr2_43225851_43601038 | 43521102 | GAGGGAAG others(11): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01106.hp1 others(7): Show |
a0003a0007 | a0003c0002a0007c0007a0007c0014 | a0003c0002t0001a0007c0007t0002a0007c0014t0002 | a0003c0002t0001g0201 a0007c0007t0002g0003 a0007c0007t0002g0004 others(7): Show |
10 | 204 | 0.0490 | -18 | c.337 others(37): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 22/37 | chr2 | TogoVar | |||||||
THAP10_chr15_70876342_70897433 | 70891567 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(132): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(25): Show |
135 | 165 | 0.8182 | -18 | c.429 others(33): Show |
THAP10 | ENSG00000129028.9 | transcript | ENST00000249861.9 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
THAP11_chr16_67837320_67849195 | 67842893 | ACAGCAGC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG01071.hp1 NA18983.hp1 NA19009.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0000 a0004c0006t0001g0000 |
3 | 283 | 0.0106 | -18 | c.366 others(25): Show |
p.Gln others(13): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1/1 | 601/1876 | 366/945 | 122/314 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
THAP2_chr12_71659301_71685644 | 71681646 | TAAAAAAA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0021 a0001c0001t0005g0076 |
2 | 34 | 0.0588 | -18 | c.*45 others(29): Show |
THAP2 | ENSG00000173451.7 | transcript | ENST00000308086.3 | protein_coding | 1003 | chr12 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241625807 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 388 | 0.0026 | -18 | c.124 others(37): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
THAP7_chr22_20994104_21007118 | 21004443 | GTTTTTTT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0003t0001g0007 others(3): Show |
85 | 212 | 0.4009 | -18 | c.-25 others(29): Show |
THAP7 | ENSG00000184436.12 | transcript | ENST00000215742.9 | protein_coding | 2326 | chr22 | TogoVar | |||||||
THAP7_chr22_20994104_21007118 | 21004472 | TTTTTTTT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG01257.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0002g0029 others(1): Show |
32 | 430 | 0.0744 | -18 | c.-25 others(29): Show |
THAP7 | ENSG00000184436.12 | transcript | ENST00000215742.9 | protein_coding | 2355 | chr22 | TogoVar | |||||||
THAP8_chr19_36029984_36059285 | 36031008 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 190 | 0.0053 | -18 | c.*44 others(29): Show |
THAP8 | ENSG00000161277.11 | transcript | ENST00000292894.2 | protein_coding | 3975 | chr19 | TogoVar | |||||||
THAP8_chr19_36029984_36059285 | 36037243 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(119): Show |
a0002a0005a0008others(2): Show | a0002c0002a0002c0006a0005c0005others(3): Show | a0002c0002t0002a0002c0006t0002a0005c0005t0002others(3): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0007 others(63): Show |
122 | 171 | 0.7135 | -18 | c.673 others(35): Show |
THAP8 | ENSG00000161277.11 | transcript | ENST00000292894.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
THAP9_chr4_82895735_82924969 | 82922710 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0074 |
4 | 5 | 0.8000 | -18 | c.*37 others(29): Show |
THAP9 | ENSG00000168152.13 | transcript | ENST00000302236.10 | protein_coding | 2742 | chr4 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169235947 | TCCCCATC others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0317 | 1 | 393 | 0.0025 | -18 | c.147 others(37): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 9/21 | chr6 | TogoVar | |||||||
THEGL_chr4_56525606_56608507 | 56543915 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 382 | 0.0026 | -18 | c.494 others(35): Show |
THEGL | ENSG00000249693.3 | transcript | ENST00000512175.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
THEGL_chr4_56525606_56608507 | 56598587 | TAAGGGAA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02129.hp2 HG02257.hp2 others(11): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0238 a0001c0002t0001g0090 a0001c0003t0001g0155 others(11): Show |
14 | 382 | 0.0366 | -18 | c.110 others(37): Show |
THEGL | ENSG00000249693.3 | transcript | ENST00000512175.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
THEM6_chr8_142722223_142741927 | 142732161 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02897.hp1 NA18947.hp1 NA18995.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001 | a0001c0001t0003g0041 a0001c0001t0006g0146 a0001c0002t0001g0129 |
4 | 92 | 0.0435 | -18 | c.514 others(35): Show |
THEM6 | ENSG00000130193.8 | transcript | ENST00000336138.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
THEM6_chr8_142722223_142741927 | 142732192 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0056 | 1 | 408 | 0.0025 | -18 | c.514 others(35): Show |
THEM6 | ENSG00000130193.8 | transcript | ENST00000336138.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
THEM6_chr8_142722223_142741927 | 142739874 | TGGCCAAC others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | -18 | c.*44 others(29): Show |
THEM6 | ENSG00000130193.8 | transcript | ENST00000336138.4 | protein_coding | 2948 | chr8 | TogoVar | |||||||
THEMIS_chr6_127703200_127906058 | 127729140 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0004 a0002c0001t0001g0040 |
2 | 19 | 0.1053 | -18 | c.175 others(37): Show |
THEMIS | ENSG00000172673.12 | transcript | ENST00000368248.5 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
THG1L_chr5_157726420_157746449 | 157732227 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 444 | 0.0023 | -18 | c.191 others(33): Show |
THG1L | ENSG00000113272.14 | transcript | ENST00000231198.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
THOC2_chrX_123595569_123738052 | 123596683 | TTACAATT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 249 | 0.0040 | -18 | c.*46 others(29): Show |
THOC2 | ENSG00000125676.20 | transcript | ENST00000245838.13 | protein_coding | 3885 | chrX | TogoVar | |||||||
THOC2_chrX_123595569_123738052 | 123737222 | CTTTTCTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00621.hp1 others(114): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
117 | 135 | 0.8667 | -18 | c.-42 others(29): Show |
THOC2 | ENSG00000125676.20 | transcript | ENST00000245838.13 | protein_coding | 4171 | chrX | TogoVar | |||||||
THRAP3_chr1_36219443_36310357 | 36241383 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(60): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(60): Show |
63 | 104 | 0.6058 | -18 | c.-13 others(39): Show |
THRAP3 | ENSG00000054118.15 | transcript | ENST00000354618.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THRAP3_chr1_36219443_36310357 | 36252927 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 60 | 0.0167 | -18 | c.-13 others(37): Show |
THRAP3 | ENSG00000054118.15 | transcript | ENST00000354618.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THRA_chr17_40057965_40098002 | 40066673 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0107 | 1 | 356 | 0.0028 | -18 | c.-29 others(37): Show |
THRA | ENSG00000126351.13 | transcript | ENST00000450525.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24113911 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0003g0126 a0001c0001t0007g0143 a0001c0001t0011g0002 others(18): Show |
21 | 27 | 0.7778 | -18 | c.*89 others(29): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3241 | chr3 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24183347 | CTTCTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 176 | 0.0057 | -18 | c.283 others(35): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24254199 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0050 others(54): Show |
57 | 63 | 0.9048 | -18 | c.-42 others(37): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24296056 | ATTTCCAC others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0001t0013others(7): Show | a0001c0001t0008g0150 a0001c0001t0008g0169 a0001c0001t0011g0002 others(8): Show |
11 | 176 | 0.0625 | -18 | c.-43 others(35): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24299771 | TTATTTAT others(11): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0050 | a0001c0001t0001g0172 a0001c0001t0019g0148 a0001c0001t0050g0147 |
3 | 170 | 0.0176 | -18 | c.-18 others(37): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
THSD1_chr13_52372167_52411172 | 52391525 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG03017.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0038 a0002c0003t0003g0186 a0002c0003t0003g0187 others(3): Show |
7 | 314 | 0.0223 | -18 | c.102 others(37): Show |
THSD1 | ENSG00000136114.17 | transcript | ENST00000258613.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71172682 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0103 | 1 | 26 | 0.0385 | -18 | c.99+ others(35): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71240798 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0016 | a0001c0001t0008g0060 a0001c0003t0016g0052 |
2 | 41 | 0.0488 | -18 | c.465 others(35): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71561863 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0011 | 1 | 68 | 0.0147 | -18 | c.115 others(39): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71561903 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0001g0096 a0001c0001t0004g0101 a0001c0001t0008g0110 others(17): Show |
20 | 116 | 0.1724 | -18 | c.115 others(39): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71587787 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01978.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0012a0001c0001t0039a0001c0002t0001others(9): Show | a0001c0001t0012g0054 a0001c0001t0039g0011 a0001c0002t0001g0090 others(10): Show |
13 | 52 | 0.2500 | -18 | c.115 others(39): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71593423 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0079 | 1 | 89 | 0.0112 | -18 | c.115 others(39): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71727543 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0005a0001c0002t0016a0001c0006t0012 | a0001c0002t0005g0045 a0001c0002t0005g0103 a0001c0002t0016g0084 others(1): Show |
4 | 113 | 0.0354 | -18 | c.135 others(36): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71727587 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0003a0001c0008t0002 | a0001c0002t0003g0111 a0001c0008t0002g0099 |
2 | 35 | 0.0571 | -18 | c.135 others(35): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71736062 | TCTCTCTG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(76): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(76): Show |
79 | 116 | 0.6810 | -18 | c.163 others(37): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71741684 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0012a0001c0001t0037a0001c0007t0001others(1): Show | a0001c0001t0012g0049 a0001c0001t0037g0106 a0001c0007t0001g0008 others(1): Show |
4 | 14 | 0.2857 | -18 | c.190 others(37): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD7A_chr7_11365365_11837198 | 11459665 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0021 | a0002c0021t0004 | a0002c0021t0004g0098 | 1 | 35 | 0.0286 | -18 | c.260 others(35): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 11/27 | chr7 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11780997 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 NA18522.hp2 |
a0001a0002a0008 | a0001c0002a0002c0009a0008c0018 | a0001c0002t0007a0002c0009t0027a0008c0018t0013 | a0001c0002t0007g0069 a0002c0009t0027g0132 a0008c0018t0013g0133 |
3 | 7 | 0.4286 | -18 | c.190 others(37): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11796033 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01243.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0050others(1): Show | a0001c0001t0002a0001c0001t0021a0003c0004t0001others(2): Show | a0001c0001t0002g0065 a0001c0001t0021g0064 a0003c0004t0001g0151 others(2): Show |
5 | 33 | 0.1515 | -18 | c.190 others(37): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11831842 | GAGCAGCG others(11): Show |
G | disruptive_inframe_deletion | MODERATE | HG02257.hp2 | a0012 | a0012c0023 | a0012c0023t0014 | a0012c0023t0014g0005 | 1 | 178 | 0.0056 | -18 | c.87_ others(24): Show |
p.Leu others(11): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/28 | 356/10655 | 87/4974 | 29/1657 | chr7 | TogoVar | |||
THSD7B_chr2_136760545_137682718 | 136765490 | CTCCTCCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG00738.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0010a0001c0005t0003a0002c0003t0009others(4): Show | a0001c0001t0010g0087 a0001c0005t0003g0077 a0002c0003t0009g0073 others(5): Show |
8 | 73 | 0.1096 | -18 | c.-23 others(27): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 54 | chr2 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 136859969 | GTGGATCC others(11): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02451.hp1 |
a0001a0002 | a0001c0031a0002c0003 | a0001c0031t0004a0002c0003t0009 | a0001c0031t0004g0060 a0002c0003t0009g0075 |
2 | 96 | 0.0208 | -18 | c.-35 others(37): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 136903956 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02056.hp2 others(12): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0006others(12): Show | a0001c0001t0001g0025 a0001c0001t0003g0081 a0001c0004t0006g0023 others(12): Show |
15 | 96 | 0.1563 | -18 | c.139 others(37): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 136998909 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0003a0014 | a0001c0001a0003c0002a0014c0038 | a0001c0001t0008a0003c0002t0001a0014c0038t0007 | a0001c0001t0008g0012 a0003c0002t0001g0002 a0003c0002t0001g0003 others(1): Show |
4 | 15 | 0.2667 | -18 | c.140 others(37): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 137104459 | CGAACATC others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp1 HG02258.hp2 |
a0009a0010a0015 | a0009c0034a0010c0035a0015c0024 | a0009c0034t0001a0010c0035t0001a0015c0024t0014 | a0009c0034t0001g0064 a0010c0035t0001g0063 a0015c0024t0014g0037 |
3 | 96 | 0.0313 | -18 | c.119 others(37): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 137187008 | GTAAAATA others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02809.hp1 |
a0001a0002 | a0001c0001a0001c0053a0002c0044 | a0001c0001t0001a0001c0053t0005a0002c0044t0007 | a0001c0001t0001g0052 a0001c0053t0005g0084 a0002c0044t0007g0059 |
3 | 96 | 0.0313 | -18 | c.172 others(39): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 137334162 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0030 | 1 | 93 | 0.0108 | -18 | c.250 others(39): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |