regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISOC2_chr19_55447985_55466642 | 55448319 | CCACAGAC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03041.hp2 HG03130.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0001c0001t0003a0003c0011t0002 | a0001c0001t0002g0001a0001c0001t0003g0119a0001c0001t0003g0154others(1): Show | 5 | 380 | 0.0132 | -28 | c.*49 others(39): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 4665 | chr19 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34456172 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 294 | 0.0034 | -28 | c.121 others(47): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47433857 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0063 | 2 | 110 | 0.0182 | -28 | c.561 others(45): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 5/17 | chr16 | TogoVar | ||||||
ITGA10_chr1_145886208_145915050 | 145903002 | GACACACA others(21): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0131 | 1 | 390 | 0.0026 | -28 | c.759 others(41): Show |
ITGA10 | ENSG00000143127.13 | transcript | ENST00000369304.8 | protein_coding | 7/29 | chr1 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68302055 | AGTGTGTG others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 HG03195.hp2 |
a0004a0023 | a0004c0077a0023c0064 | a0004c0077t0099a0023c0064t0098 | a0004c0077t0099g0223a0023c0064t0098g0224 | 2 | 242 | 0.0083 | -28 | c.*97 others(38): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 30/30 | 976 | chr15 | TogoVar | |||||
ITGA11_chr15_68291532_68437163 | 68397668 | AATATTTA others(21): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(78): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(68): Show | a0001c0001t0002g0117a0001c0001t0003g0103a0001c0001t0004g0204others(78): Show | 81 | 242 | 0.3347 | -28 | c.164 others(45): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52962729 | CACACACA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0091 | 1 | 322 | 0.0031 | -28 | c.*10 others(41): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3521 | chr5 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368122 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0168 | 4 | 354 | 0.0113 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4058 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368124 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 354 | 0.0028 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4056 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368126 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01934.hp2 HG01975.hp1 others(17): Show |
a0002a0004a0010 | a0002c0002a0004c0005a0010c0007 | a0002c0002t0001a0004c0005t0001a0010c0007t0001 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0021others(13): Show | 20 | 354 | 0.0565 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4054 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368128 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00673.hp1 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(13): Show | 31 | 354 | 0.0876 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4052 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368130 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02630.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(10): Show | 18 | 354 | 0.0509 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4050 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368132 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03704.hp1 HG04184.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0023others(1): Show | 4 | 354 | 0.0113 | -28 | c.*42 others(39): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4048 | chr17 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644433 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02922.hp1 HG03130.hp1 others(4): Show |
a0001a0007a0018 | a0001c0001a0001c0007a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0037others(3): Show | a0001c0001t0001g0134a0001c0001t0008g0071a0001c0001t0037g0096others(4): Show | 7 | 220 | 0.0318 | -28 | c.120 others(45): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644468 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0158 | 1 | 220 | 0.0046 | -28 | c.120 others(45): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512003 | CTTTTCTT others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0011 | a0002c0011t0015 | a0002c0011t0015g0053 | 1 | 168 | 0.0060 | -28 | c.898 others(45): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3754916 | ACCCAGGT others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(45): Show |
a0006a0007a0008others(12): Show | a0006c0006a0007c0007a0007c0021others(15): Show | a0006c0006t0001a0007c0007t0001a0007c0021t0001others(15): Show | a0006c0006t0001g0033a0006c0006t0001g0037a0006c0006t0001g0071others(45): Show | 48 | 302 | 0.1589 | -28 | c.138 others(45): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 12/30 | chr17 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3785492 | GAAGGAGG others(21): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03130.hp2 others(2): Show |
a0004a0006a0008 | a0004c0004a0006c0024a0008c0023others(1): Show | a0004c0004t0001a0006c0024t0001a0008c0023t0001others(1): Show | a0004c0004t0001g0029a0006c0024t0001g0009a0006c0024t0001g0282others(2): Show | 5 | 302 | 0.0166 | -28 | c.35- others(43): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3796059 | GTGCATCC others(21): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(5): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0004a0005c0005others(3): Show | a0002c0002t0001a0004c0004t0001a0005c0005t0001others(3): Show | a0002c0002t0001g0241a0004c0004t0001g0242a0004c0004t0001g0244others(5): Show | 8 | 302 | 0.0265 | -28 | c.34+ others(43): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31256985 | CATATATA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp1 others(18): Show |
a0001a0002a0010 | a0001c0005a0002c0003a0010c0012 | a0001c0005t0004a0002c0003t0003a0010c0012t0004 | a0001c0005t0004g0001a0001c0005t0004g0149a0001c0005t0004g0150others(17): Show | 21 | 244 | 0.0861 | -28 | c.-30 others(39): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2989 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31262337 | ATCCTTCC others(21): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0003 | a0001c0001t0002g0174a0004c0006t0003g0002 | 2 | 244 | 0.0082 | -28 | c.134 others(43): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272437 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 244 | 0.0041 | -28 | c.704 others(43): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272445 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 244 | 0.0041 | -28 | c.704 others(43): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272447 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0054 | 1 | 244 | 0.0041 | -28 | c.704 others(43): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31302426 | TTCTTCTT others(21): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0111 | 1 | 244 | 0.0041 | -28 | c.170 others(47): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302918 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01192.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0208a0001c0001t0002g0135a0001c0001t0002g0139others(6): Show | 9 | 244 | 0.0369 | -28 | c.170 others(47): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31334657 | CTTCCTTC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp2 HG02015.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0173a0001c0001t0001g0187 | 3 | 244 | 0.0123 | -28 | c.*29 others(39): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1781 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334661 | CTTCCTTC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG03942.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0236 | 2 | 244 | 0.0082 | -28 | c.*29 others(39): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1785 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334669 | CTTCTTTC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0092 | 1 | 244 | 0.0041 | -28 | c.*29 others(39): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1793 | chr16 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781204 | TTTTTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG01516.hp1 others(17): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0003c0003 | a0001c0006t0001a0002c0002t0001a0003c0003t0001 | a0001c0006t0001g0104a0002c0002t0001g0010a0002c0002t0001g0024others(7): Show | 20 | 406 | 0.0493 | -28 | c.688 others(43): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7556078 | ATGTATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03209.hp1 |
a0000a0014 | a0000c0014a0014c0039 | a0000c0014t0036a0014c0039t0063 | a0000c0014t0036g0211a0014c0039t0063g0324 | 2 | 342 | 0.0059 | -28 | c.*69 others(39): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 3191 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644874 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG03834.hp2 HG04199.hp2 |
a0003a0004 | a0003c0005a0004c0007 | a0003c0005t0001a0004c0007t0027 | a0003c0005t0001g0311a0004c0007t0027g0300 | 2 | 342 | 0.0059 | -28 | c.136 others(45): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITM2C_chr2_230859942_230884248 | 230870975 | CAACAGCT others(21): Show |
C | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0073 | 1 | 398 | 0.0025 | -28 | c.121 others(45): Show |
ITM2C | ENSG00000135916.16 | transcript | ENST00000326427.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4744898 | CTCCTTCC others(21): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01517.hp2 |
a0001 | a0001c0001a0001c0093 | a0001c0001t0001a0001c0093t0003 | a0001c0001t0001g0037a0001c0093t0003g0065 | 2 | 176 | 0.0114 | -28 | c.554 others(47): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4744922 | TTCCTTCC others(21): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01516.hp2 others(5): Show |
a0001a0006 | a0001c0002a0001c0022a0001c0024others(3): Show | a0001c0002t0001a0001c0022t0002a0001c0024t0002others(3): Show | a0001c0002t0001g0038a0001c0002t0001g0162a0001c0022t0002g0078others(5): Show | 8 | 176 | 0.0455 | -28 | c.554 others(47): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR2_chr12_26330352_26838194 | 26461621 | CATATAAA others(21): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(46): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0040a0001c0001t0002g0095a0001c0001t0003g0074others(46): Show | 49 | 142 | 0.3451 | -28 | c.634 others(49): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26567941 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0043 | a0001c0043t0054 | a0001c0043t0054g0140 | 1 | 142 | 0.0070 | -28 | c.463 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26589797 | ATAAATAA others(21): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02055.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0024others(2): Show | a0001c0002t0017a0001c0004t0006a0001c0024t0010others(2): Show | a0001c0002t0017g0070a0001c0004t0006g0058a0001c0024t0010g0124others(2): Show | 5 | 142 | 0.0352 | -28 | c.438 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26589811 | AATAAATA others(21): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0023 | a0002c0023t0019 | a0002c0023t0019g0131 | 1 | 142 | 0.0070 | -28 | c.438 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26782006 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0055 | a0001c0055t0008 | a0001c0055t0008g0059 | 1 | 142 | 0.0070 | -28 | c.163 others(45): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26782011 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01106.hp2 others(4): Show |
a0001 | a0001c0013a0001c0025a0001c0027others(2): Show | a0001c0013t0002a0001c0013t0022a0001c0025t0024others(4): Show | a0001c0013t0002g0020a0001c0013t0022g0120a0001c0025t0024g0139others(4): Show | 7 | 142 | 0.0493 | -28 | c.163 others(45): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26782013 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01081.hp1 others(3): Show |
a0001 | a0001c0013a0001c0025a0001c0026others(3): Show | a0001c0013t0022a0001c0025t0051a0001c0026t0053others(3): Show | a0001c0013t0022g0129a0001c0025t0051g0133a0001c0026t0053g0142others(3): Show | 6 | 142 | 0.0423 | -28 | c.163 others(45): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31520544 | TGTGTGTG others(21): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0050 | a0005c0050t0004 | a0005c0050t0004g0081 | 1 | 312 | 0.0032 | -28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITPRID1_chr7_31509090_31661504 | 31521615 | TTTCCCTC others(21): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02055.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0001a0002c0001t0002others(2): Show | a0001c0002t0002g0229a0001c0003t0001g0010a0001c0003t0001g0022others(6): Show | 9 | 312 | 0.0289 | -28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITPRID1_chr7_31509090_31661504 | 31599585 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 NA20129.hp2 |
a0009a0010a0012 | a0009c0041a0010c0029a0012c0037 | a0009c0041t0004a0010c0029t0005a0012c0037t0026 | a0009c0041t0004g0227a0010c0029t0005g0013a0012c0037t0026g0008 | 3 | 312 | 0.0096 | -28 | c.122 others(49): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITPRIP_chr10_104304700_104343465 | 104306048 | TGTGTGTG others(21): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp2 others(34): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0013 | a0001c0001t0002a0001c0001t0021a0001c0001t0034others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0022others(21): Show | 37 | 324 | 0.1142 | -28 | c.*83 others(39): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 3651 | chr10 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33690787 | ATACATAT others(21): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0028others(4): Show | a0001c0001t0003g0072a0001c0001t0012g0200a0001c0001t0028g0129others(4): Show | 7 | 242 | 0.0289 | -28 | c.-32 others(47): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ITSN2_chr2_24197864_24365536 | 24201340 | GGAGACTC others(21): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03041.hp1 NA18906.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001a0002c0003t0001g0156a0002c0003t0001g0157 | 4 | 224 | 0.0179 | -28 | c.*22 others(39): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1523 | chr2 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150388630 | GCTTTCTT others(21): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG04199.hp1 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0066others(1): Show | a0001c0001t0001g0306a0001c0001t0006g0250a0001c0001t0066g0308others(1): Show | 4 | 414 | 0.0097 | -28 | c.179 others(43): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
IZUMO2_chr19_50147548_50168281 | 50163957 | TATATATA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 394 | 0.0025 | -28 | c.-79 others(37): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 677 | chr19 | TogoVar |