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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INTS2_chr17_61860367_61932982 | 61889020 | CAAAAACA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00642.hp1 others(48): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0004a0001c0002t0009a0001c0002t0011others(3): Show | a0001c0002t0004g0039a0001c0002t0004g0040a0001c0002t0004g0041others(48): Show | 51 | 366 | 0.1393 | -7 | c.198 others(24): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 15/24 | chr17 | TogoVar | ||||||
INTS3_chr1_153723050_153779808 | 153770059 | GTGTGTGT | G | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01099.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0027others(27): Show | 33 | 349 | 0.0946 | -7 | c.239 others(24): Show |
INTS3 | ENSG00000143624.14 | transcript | ENST00000318967.7 | protein_coding | 23/29 | chr1 | TogoVar | ||||||
INTS6L_chrX_135515660_135587510 | 135518560 | ATGGAAAC | A | upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 244 | 0.0041 | -7 | c.-24 others(18): Show |
INTS6L | ENSG00000165359.16 | transcript | ENST00000639893.2 | protein_coding | 2099 | chrX | TogoVar | ||||||
INTS6L_chrX_135515660_135587510 | 135523402 | CAAAAAAA | C | intron_variant | MODIFIER | HG02080.hp1 HG02155.hp2 NA18975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 5 | 244 | 0.0205 | -7 | c.189 others(24): Show |
INTS6L | ENSG00000165359.16 | transcript | ENST00000639893.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INTS6L_chrX_135515660_135587510 | 135530131 | ATTTATAG | A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0204 | 1 | 244 | 0.0041 | -7 | c.189 others(24): Show |
INTS6L | ENSG00000165359.16 | transcript | ENST00000639893.2 | protein_coding | 2/17 | chrX | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51399212 | GTTTTATT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(8): Show | a0001c0001t0005g0244a0001c0001t0005g0245a0001c0001t0005g0246others(40): Show | 43 | 358 | 0.1201 | -7 | c.430 others(24): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
INTS7_chr1_211935403_212040557 | 211995115 | ATTTTCAT | A | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0009 | a0001c0001t0009g0203a0001c0002t0009g0030a0001c0002t0009g0031 | 3 | 352 | 0.0085 | -7 | c.880 others(24): Show |
INTS7 | ENSG00000143493.13 | transcript | ENST00000366994.8 | protein_coding | 7/19 | chr1 | TogoVar | ||||||
INTS7_chr1_211935403_212040557 | 212011442 | GAACAGAA | G | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02965.hp1 others(1): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0007a0002c0003t0021a0002c0007t0022 | a0002c0003t0007g0319a0002c0003t0007g0320a0002c0003t0021g0321others(1): Show | 4 | 352 | 0.0114 | -7 | c.510 others(20): Show |
INTS7 | ENSG00000143493.13 | transcript | ENST00000366994.8 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
INTS7_chr1_211935403_212040557 | 212023627 | ATAGACTC | A | intron_variant | MODIFIER | NA18941.hp1 NA18960.hp2 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248a0001c0001t0002g0249a0001c0001t0002g0250others(1): Show | 4 | 352 | 0.0114 | -7 | c.95- others(22): Show |
INTS7 | ENSG00000143493.13 | transcript | ENST00000366994.8 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
INTS9_chr8_28762661_28894969 | 28776433 | TTTTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0147others(68): Show | 72 | 358 | 0.2011 | -7 | c.139 others(24): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 13/16 | chr8 | TogoVar | ||||||
INTS9_chr8_28762661_28894969 | 28833642 | ACAAAAAC | A | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0345a0001c0001t0001g0346a0001c0001t0002g0262others(1): Show | 4 | 358 | 0.0112 | -7 | c.488 others(24): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 6/16 | chr8 | TogoVar | ||||||
INTU_chr4_127627957_127731737 | 127725174 | GCAGGTGC | G | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018a0001c0001t0026others(1): Show | a0001c0001t0010g0008a0001c0001t0010g0123a0001c0001t0010g0124others(9): Show | 14 | 358 | 0.0391 | -7 | c.*87 others(18): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 16/16 | 8740 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
INVS_chr9_100094243_100307175 | 100198264 | ATTTTTTT | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0033a0001c0001t0001g0035others(8): Show | 11 | 182 | 0.0604 | -7 | c.274 others(26): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IP6K1_chr3_49719294_49791542 | 49756817 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(115): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0016others(114): Show | 118 | 260 | 0.4539 | -7 | c.-12 others(26): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
IP6K2_chr3_48683003_48722221 | 48687070 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(42): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0004a0001c0002t0001g0013a0001c0002t0001g0014others(30): Show | 45 | 262 | 0.1718 | -7 | c.*11 others(18): Show |
IP6K2 | ENSG00000068745.15 | transcript | ENST00000328631.10 | protein_coding | 932 | chr3 | TogoVar | ||||||
IP6K2_chr3_48683003_48722221 | 48706063 | CGTGCATG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(166): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(119): Show | 169 | 262 | 0.6450 | -7 | c.-13 others(28): Show |
IP6K2 | ENSG00000068745.15 | transcript | ENST00000328631.10 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154273724 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0182others(7): Show | 10 | 264 | 0.0379 | -7 | c.-17 others(24): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154281184 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0156a0001c0001t0004g0019a0001c0001t0004g0100others(13): Show | 16 | 264 | 0.0606 | -7 | c.-18 others(24): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154288669 | AAAAAAAC | A | intron_variant | MODIFIER | HG00609.hp2 HG03654.hp1 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0151a0001c0001t0002g0176others(2): Show | 5 | 264 | 0.0189 | -7 | c.-18 others(24): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357680 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00738.hp2 others(32): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088a0001c0001t0001g0104a0001c0001t0001g0108others(32): Show | 35 | 264 | 0.1326 | -7 | c.-10 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 878 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357759 | TATATAAA | T | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0007t0018others(1): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0005g0231others(2): Show | 5 | 264 | 0.0189 | -7 | c.-11 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 957 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357790 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0163a0001c0001t0001g0170a0001c0001t0001g0171others(1): Show | 4 | 264 | 0.0152 | -7 | c.-11 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 988 | chr6 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58191144 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0006g0285a0001c0001t0006g0286a0001c0001t0006g0299others(15): Show | 19 | 346 | 0.0549 | -7 | c.*49 others(18): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 372 | chr10 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58241074 | GGGAGGGT | G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01071.hp1 others(34): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0013a0001c0001t0003g0298a0001c0001t0003g0300others(33): Show | 37 | 346 | 0.1069 | -7 | c.191 others(24): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62549087 | GTTTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(112): Show | 115 | 330 | 0.3485 | -7 | c.225 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62587736 | CTGGTACA | C | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG03516.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0002t0001g0176a0001c0002t0001g0179others(4): Show | 7 | 330 | 0.0212 | -7 | c.258 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 98012801 | ATTTTTTT | A | intron_variant | MODIFIER | NA18950.hp2 NA18966.hp1 NA18982.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0022 | a0001c0004t0005g0356a0001c0004t0005g0357a0001c0004t0005g0358others(6): Show | 9 | 380 | 0.0237 | -7 | c.215 others(24): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPP_chr1_45693711_45755653 | 45735466 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011a0001c0001t0005g0012a0001c0001t0005g0014others(2): Show | 5 | 128 | 0.0391 | -7 | c.724 others(24): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45747834 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(26): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0009a0003c0003t0001 | a0002c0002t0001g0082a0002c0002t0001g0085a0002c0002t0001g0086others(26): Show | 29 | 128 | 0.2266 | -7 | c.-50 others(24): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IQANK1_chr8_143729139_143795645 | 143775816 | ACACACAC | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02976.hp1 |
a0001a0007a0030 | a0001c0001a0007c0007a0030c0021 | a0001c0001t0001a0007c0007t0001a0030c0021t0001 | a0001c0001t0001g0344a0007c0007t0001g0044a0030c0021t0001g0338 | 3 | 349 | 0.0086 | -7 | c.789 others(24): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQANK1_chr8_143729139_143795645 | 143776283 | TGCAGTCC | T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0006c0006t0001others(2): Show | a0001c0001t0001g0344a0002c0002t0001g0283a0006c0006t0001g0030others(9): Show | 12 | 349 | 0.0344 | -7 | c.789 others(24): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236357187 | ATATATAT | A | intron_variant | MODIFIER | NA18943.hp2 NA18974.hp2 |
a0003a0009 | a0003c0003a0009c0020 | a0003c0003t0001a0009c0020t0003 | a0003c0003t0001g0070a0009c0020t0003g0005 | 2 | 208 | 0.0096 | -7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236358408 | TATATATG | T | intron_variant | MODIFIER | HG02895.hp2 HG02976.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0078a0001c0001t0002g0191a0001c0001t0004g0052others(3): Show | 6 | 208 | 0.0289 | -7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236491212 | ACACACAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 HG01934.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0102a0001c0004t0002g0134a0001c0004t0002g0150 | 3 | 208 | 0.0144 | -7 | c.456 others(24): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236507157 | GAAAAGAA | G | intron_variant | MODIFIER | HG03654.hp2 HG03704.hp2 NA18968.hp1 others(9): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0020 | a0001c0001t0003a0003c0003t0003a0009c0020t0003 | a0001c0001t0003g0001a0001c0001t0003g0009a0001c0001t0003g0010others(9): Show | 12 | 208 | 0.0577 | -7 | c.11+ others(18): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2583846 | GGGGCGGA | G | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02896.hp1 others(3): Show |
a0003a0008a0014 | a0003c0005a0008c0006a0014c0018 | a0003c0005t0088a0008c0006t0024a0008c0006t0046others(2): Show | a0003c0005t0088g0164a0008c0006t0024g0151a0008c0006t0046g0111others(3): Show | 6 | 416 | 0.0144 | -7 | c.774 others(22): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCJ_chr3_159064319_159268747 | 159121138 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0098others(2): Show | 5 | 252 | 0.0198 | -7 | c.9+5 others(22): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IQCJ_chr3_159064319_159268747 | 159137263 | GAAAAAAA | G | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0200a0001c0001t0001g0234a0001c0001t0001g0235others(4): Show | 7 | 252 | 0.0278 | -7 | c.9+6 others(22): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IQCM_chr4_149346709_149820843 | 149388524 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp2 others(7): Show |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0008 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0106a0001c0001t0001g0191others(7): Show | 10 | 252 | 0.0397 | -7 | c.139 others(28): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149621826 | GAGATTTA | G | intron_variant | MODIFIER | HG02738.hp2 HG03017.hp1 HG03491.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0020a0001c0001t0001g0031a0001c0001t0001g0124others(14): Show | 17 | 252 | 0.0675 | -7 | c.566 others(22): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149633167 | CAAAAAAA | C | intron_variant | MODIFIER | NA18968.hp1 NA18971.hp1 NA18984.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0047a0001c0001t0002g0061a0001c0001t0002g0080others(4): Show | 7 | 252 | 0.0278 | -7 | c.566 others(26): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | ||||||
IQGAP1_chr15_90383242_90507239 | 90450330 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(98): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(8): Show | a0001c0001t0001g0099a0001c0001t0001g0101a0001c0001t0001g0110others(98): Show | 101 | 360 | 0.2806 | -7 | c.116 others(24): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQGAP1_chr15_90383242_90507239 | 90481269 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(35): Show |
a0001a0003 | a0001c0002a0001c0007a0003c0022 | a0001c0002t0003a0001c0007t0003a0003c0022t0003 | a0001c0002t0003g0002a0001c0002t0003g0075a0001c0002t0003g0107others(34): Show | 38 | 360 | 0.1056 | -7 | c.333 others(24): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76436510 | TATATATA | T | intron_variant | MODIFIER | HG02647.hp2 NA20129.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0002a0001c0009t0003 | a0001c0003t0002g0188a0001c0009t0003g0211 | 2 | 222 | 0.0090 | -7 | c.47- others(24): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76438028 | TTTGTTTG | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01106.hp2 others(23): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0001a0002c0006others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0011others(17): Show | a0001c0002t0001g0070a0001c0002t0002g0111a0001c0002t0011g0067others(23): Show | 26 | 222 | 0.1171 | -7 | c.47- others(24): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76460860 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0001c0009others(27): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(54): Show | a0001c0002t0001g0190a0001c0002t0001g0191a0001c0002t0002g0071others(82): Show | 85 | 222 | 0.3829 | -7 | c.47- others(20): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76610107 | TATATATA | T | intron_variant | MODIFIER | HG02080.hp2 HG02970.hp2 NA18968.hp1 others(1): Show |
a0008a0010a0016others(1): Show | a0008c0011a0010c0044a0016c0024others(1): Show | a0008c0011t0007a0010c0044t0005a0016c0024t0002others(1): Show | a0008c0011t0007g0047a0010c0044t0005g0061a0016c0024t0002g0170others(1): Show | 4 | 222 | 0.0180 | -7 | c.135 others(24): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | chr5 | TogoVar | ||||||
IQSEC1_chr3_12892043_13078429 | 12984815 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0015a0002c0004t0012 | a0001c0001t0003g0037a0001c0001t0003g0116a0001c0001t0015g0201others(2): Show | 5 | 250 | 0.0200 | -7 | c.24- others(24): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
IQSEC2_chrX_53227876_53326350 | 53259188 | CAAAAAAA | C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 213 | 0.0047 | -7 | c.738 others(24): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 2/14 | chrX | TogoVar | ||||||
IQSEC2_chrX_53227876_53326350 | 53316831 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0007t0001g0010 | 3 | 213 | 0.0141 | -7 | c.707 others(24): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 1/14 | chrX | TogoVar |