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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB3_chr12_107313434_107664642 | 107482965 | TTTCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02257.hp1 HG02615.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0002a0002c0002t0012a0003c0008t0001 | a0001c0001t0002g0093 a0002c0002t0012g0180 a0003c0008t0001g0021 others(2): Show |
5 | 180 | 0.0278 | -28 | c.113 others(49): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107482973 | TTTCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02895.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0036a0004c0005t0008a0004c0005t0013 | a0002c0002t0036g0170 a0004c0005t0008g0012 a0004c0005t0013g0163 |
3 | 162 | 0.0185 | -28 | c.113 others(49): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140228 | TTCCTTCC others(21): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03490.hp2 HG03492.hp2 others(3): Show |
a0001a0002a0034 | a0001c0003a0002c0006a0002c0014others(1): Show | a0001c0003t0002a0002c0006t0003a0002c0014t0003others(1): Show | a0001c0003t0002g0102 a0001c0003t0002g0112 a0002c0006t0003g0194 others(3): Show |
6 | 306 | 0.0196 | -28 | c.653 others(43): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140256 | ATCCTTCC others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(16): Show |
a0001a0002a0009others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(11): Show | a0001c0002t0001g0085 a0001c0002t0001g0280 a0001c0002t0001g0282 others(16): Show |
19 | 237 | 0.0802 | -28 | c.653 others(43): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140271 | TTTCCTTC others(21): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp2 HG01891.hp1 others(1): Show |
a0001a0003a0011 | a0001c0064a0001c0074a0003c0001others(1): Show | a0001c0064t0009a0001c0074t0004a0003c0001t0001others(1): Show | a0001c0064t0009g0184 a0001c0074t0004g0229 a0003c0001t0001g0062 others(1): Show |
4 | 139 | 0.0288 | -28 | c.653 others(43): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD8_chr11_134248568_134270855 | 134259357 | CTCAGTCT others(21): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01261.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0035 others(6): Show |
23 | 432 | 0.0532 | -28 | c.568 others(42): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 101 | 0.0099 | -28 | c.468 others(45): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195337898 | GACCTGAG others(21): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0207 | 1 | 282 | 0.0035 | -28 | c.529 others(43): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/22 | chr3 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76950352 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 NA18960.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0230 a0002c0004t0015g0251 a0002c0004t0015g0309 others(2): Show |
5 | 178 | 0.0281 | -28 | c.215 others(45): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32454273 | CACGCACT others(21): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0115 | 1 | 380 | 0.0026 | -28 | c.*41 others(39): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 21/21 | 4164 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599175 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0308 | 1 | 347 | 0.0029 | -28 | c.765 others(42): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599177 | AAAAAATA others(21): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0379 | 1 | 330 | 0.0030 | -28 | c.765 others(42): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6339888 | CGCTGGGA others(21): Show |
C | intron_variant | MODIFIER | NA18995.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0076 |
2 | 238 | 0.0084 | -28 | c.262 others(43): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ACOT8_chr20_45836721_45862392 | 45836789 | GATGACAA others(21): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 420 | 0.0024 | -28 | c.*50 others(39): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 4931 | chr20 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956945 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG03041.hp2 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0059 a0001c0001t0002g0079 a0001c0001t0028g0056 |
3 | 339 | 0.0088 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956947 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0041 | 1 | 332 | 0.0030 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp2 NA18974.hp1 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0019a0001c0001t0072a0007c0012t0036 | a0001c0001t0019g0111 a0001c0001t0072g0040 a0007c0012t0036g0042 |
3 | 319 | 0.0094 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956957 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 325 | 0.0031 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956959 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02735.hp1 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0070a0002c0017t0006 | a0002c0002t0070g0292 a0002c0017t0006g0268 |
2 | 320 | 0.0063 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956961 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 323 | 0.0031 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956963 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02071.hp1 NA18612.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0240 others(1): Show |
4 | 324 | 0.0123 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956965 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196 | 1 | 315 | 0.0032 | -28 | c.538 others(43): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510685 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0002a0001c0005t0003 | a0001c0004t0001g0047 a0001c0004t0001g0223 a0001c0005t0002g0260 others(4): Show |
7 | 345 | 0.0203 | -28 | c.185 others(47): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510687 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 335 | 0.0030 | -28 | c.185 others(47): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510689 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG03239.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0002t0001a0001c0016t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(4): Show |
9 | 317 | 0.0284 | -28 | c.185 others(47): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510695 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0229 a0001c0002t0006g0092 |
2 | 331 | 0.0060 | -28 | c.185 others(47): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8393615 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0234 | 1 | 369 | 0.0027 | -28 | c.117 others(46): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47242377 | AAGTGATC others(21): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0069 | 1 | 356 | 0.0028 | -28 | c.113 others(45): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
ACP5_chr19_11569660_11582645 | 11576174 | GCCATGTG others(21): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0075 | 1 | 442 | 0.0023 | -28 | c.735 others(41): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78182379 | TCCCAGGG others(21): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 348 | 0.0029 | -28 | c.894 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 7/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | GAGAAAGA others(21): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02027.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0001t0016a0001c0013t0001others(2): Show | a0001c0001t0001g0170 a0001c0001t0016g0246 a0001c0013t0001g0163 others(10): Show |
13 | 117 | 0.1111 | -28 | c.132 others(45): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215768 | AAGAAAGA others(21): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0233 | 1 | 348 | 0.0029 | -28 | c.132 others(45): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSL4_chrX_109636335_109738257 | 109727657 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(56): Show |
62 | 78 | 0.7949 | -28 | c.-66 others(45): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20635580 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG03704.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0003others(1): Show | a0001c0001t0002g0293 a0001c0002t0001g0054 a0001c0002t0001g0071 others(3): Show |
6 | 30 | 0.2000 | -28 | c.129 others(47): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20408194 | TCCAGAGT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02145.hp1 HG02486.hp2 |
a0017a0023 | a0017c0017a0023c0025 | a0017c0017t0010a0023c0025t0006 | a0017c0017t0010g0057 a0017c0017t0010g0058 a0023c0025t0006g0305 |
3 | 431 | 0.0070 | -28 | c.-14 others(39): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1339 | chr16 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213957 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01069.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0003a0001c0001t0029a0001c0006t0011others(1): Show | a0001c0001t0003g0099 a0001c0001t0003g0236 a0001c0001t0003g0237 others(21): Show |
24 | 83 | 0.2892 | -28 | c.135 others(47): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665715 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | NA18957.hp2 NA18972.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 4 | 396 | 0.0101 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1672 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665717 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp2 NA19002.hp2 NA19054.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 4 | 396 | 0.0101 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1674 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665719 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01069.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0063 a0001c0002t0002g0065 |
14 | 391 | 0.0358 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1676 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665721 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp1 others(25): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0004c0009 | a0001c0002t0002a0001c0002t0005a0003c0004t0002others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0015 a0001c0002t0005g0006 others(2): Show |
28 | 393 | 0.0712 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1678 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665723 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0002 | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0015 others(5): Show |
29 | 391 | 0.0742 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1680 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665725 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01099.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0022 |
12 | 387 | 0.0310 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1682 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665727 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 NA18957.hp1 NA18973.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0060 |
6 | 368 | 0.0163 | -28 | c.-18 others(39): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1684 | chr2 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(21): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00741.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0013a0001c0001t0029others(10): Show | a0001c0001t0010g0002 a0001c0001t0010g0033 a0001c0001t0013g0007 others(14): Show |
26 | 161 | 0.1615 | -28 | c.*94 others(39): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9445 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492777 | CACACACA others(21): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG02258.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0149a0001c0003t0003a0001c0003t0011others(2): Show | a0001c0001t0149g0002 a0001c0003t0003g0037 a0001c0003t0011g0003 others(2): Show |
7 | 408 | 0.0172 | -28 | c.*94 others(39): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9450 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54013255 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 31 | 0.0323 | -28 | c.63- others(45): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54276636 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 270 | 0.0037 | -28 | c.405 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17191869 | CCCAGCCA others(21): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0250 a0001c0001t0003g0043 others(10): Show |
13 | 406 | 0.0320 | -28 | c.754 others(41): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0181 | 1 | 5 | 0.2000 | -28 | c.*43 others(39): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4370 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113685 | AAAATATA others(21): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0021others(1): Show | a0001c0002t0015a0001c0004t0020a0001c0021t0017others(2): Show | a0001c0002t0015g0209 a0001c0004t0020g0017 a0001c0004t0020g0195 others(4): Show |
7 | 241 | 0.0290 | -28 | c.604 others(45): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar |