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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0168 | 1 | 143 | 0.0070 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 143 | 0.0070 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47829315 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 168 | 0.0060 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | chr3 | TogoVar | |||||||
DHX37_chr12_124941826_124994131 | 124991694 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0314 | 1 | 315 | 0.0032 | 15 | c.-26 others(26): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 2564 | chr12 | TogoVar | |||||||
DHX57_chr2_38792729_38880934 | 38837611 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(30): Show |
a0001a0004a0008 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0005 a0001c0001t0002g0136 a0001c0001t0002g0199 others(27): Show |
33 | 54 | 0.6111 | 15 | c.254 others(32): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
DHX57_chr2_38792729_38880934 | 38853044 | G | GTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(97): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0006 a0001c0001t0002g0043 a0001c0001t0002g0044 others(95): Show |
100 | 131 | 0.7634 | 15 | c.203 others(33): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 9/23 | chr2 | TogoVar | |||||||
DHX8_chr17_43478975_43530670 | 43511456 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0023 others(40): Show |
56 | 59 | 0.9492 | 15 | c.250 others(34): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp1 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0037 others(19): Show |
29 | 186 | 0.1559 | 15 | c.155 others(34): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141566895 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0001 | a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0217 others(4): Show |
7 | 25 | 0.2800 | 15 | c.248 others(34): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 18/27 | chr5 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96807944 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 35 | 0.0286 | 15 | c.447 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 104 | 0.0096 | 15 | c.132 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97011891 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 70 | 0.0143 | 15 | c.205 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97129089 | A | ATCTTTTC others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0075 others(12): Show |
15 | 80 | 0.1875 | 15 | c.259 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97129146 | C | CTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0035 |
2 | 103 | 0.0194 | 15 | c.259 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97145282 | C | CAGTAGTA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0141 a0001c0001t0003g0006 a0001c0001t0003g0087 others(4): Show |
7 | 13 | 0.5385 | 15 | c.271 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97240605 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0049 a0001c0001t0012g0003 |
2 | 135 | 0.0148 | 15 | c.272 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97252716 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00738.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 others(76): Show |
79 | 83 | 0.9518 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97253293 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 7 | 0.1429 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97253293 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0043 others(44): Show |
47 | 53 | 0.8868 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97300931 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 30 | 0.0333 | 15 | c.284 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 a0002c0003t0002g0148 |
2 | 27 | 0.0741 | 15 | c.316 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTTT others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19064.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0047 a0002c0004t0001g0050 |
2 | 27 | 0.0741 | 15 | c.316 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59993702 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 a0001c0001t0002g0130 |
2 | 50 | 0.0400 | 15 | c.101 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60014969 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02258.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0095 a0001c0001t0002g0130 a0001c0001t0003g0001 others(6): Show |
9 | 69 | 0.1304 | 15 | c.771 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 7/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60052959 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(27): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 others(27): Show |
30 | 76 | 0.3947 | 15 | c.496 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60105099 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0009 | 1 | 110 | 0.0091 | 15 | c.390 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60138785 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG02132.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(11): Show |
14 | 66 | 0.2121 | 15 | c.181 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DICER1_chr14_95081228_95162529 | 95119621 | A | ACAAGCTG others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 302 | 0.0033 | 15 | c.137 others(34): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 8/26 | chr14 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(8): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0170 | 1 | 86 | 0.0116 | 15 | c.*39 others(26): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62904780 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01258.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 a0003c0003t0001g0225 a0003c0003t0001g0226 others(3): Show |
7 | 69 | 0.1014 | 15 | c.158 others(34): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62389485 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0015 others(25): Show |
45 | 192 | 0.2344 | 15 | c.900 others(30): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62396139 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00639.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0043 others(51): Show |
112 | 235 | 0.4766 | 15 | c.447 others(32): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
DIO1_chr1_53889187_53916086 | 53893892 | T | TTAAGTGT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 450 | 0.0022 | 15 | c.-31 others(24): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 294 | chr1 | TogoVar | |||||||
DIO1_chr1_53889187_53916086 | 53897365 | A | ACTCAGAA others(8): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 450 | 0.0022 | 15 | c.337 others(32): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46461271 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(60): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 others(60): Show |
63 | 144 | 0.4375 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46464817 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 99 | 0.0101 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46464844 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0006a0001c0012a0001c0023 | a0001c0006t0004a0001c0012t0012a0001c0023t0004 | a0001c0006t0004g0161 a0001c0012t0012g0160 a0001c0023t0004g0174 others(1): Show |
4 | 216 | 0.0185 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46477543 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 82 | 0.0122 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46477570 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 372 | 0.0027 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46477574 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19064.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0003 a0001c0004t0001g0114 |
2 | 370 | 0.0054 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495179 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18954.hp1 NA19005.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0003a0001c0004t0001others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0207 a0001c0001t0002g0256 others(4): Show |
7 | 243 | 0.0288 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495235 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19005.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0364 a0001c0003t0003g0372 |
2 | 324 | 0.0062 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495240 | T | TTCTCTTC others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0013a0001c0020t0002 | a0001c0001t0013g0152 a0001c0020t0002g0157 |
2 | 317 | 0.0063 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495244 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0147 | 1 | 177 | 0.0056 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46506724 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 a0001c0004t0001g0023 |
2 | 202 | 0.0099 | 15 | c.784 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46506724 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03130.hp2 HG03654.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0004t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 others(5): Show |
8 | 208 | 0.0385 | 15 | c.784 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46516488 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18993.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0010 | a0001c0003t0003g0311 a0001c0005t0010g0292 |
2 | 227 | 0.0088 | 15 | c.110 others(34): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46573645 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0137 | 1 | 49 | 0.0204 | 15 | c.*60 others(26): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3631 | chr21 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50537114 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19002.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0150 others(1): Show |
4 | 36 | 0.1111 | 15 | c.100 others(34): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593707 | C | CCTCCTCT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19005.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 a0001c0003t0002g0043 |
2 | 236 | 0.0085 | 15 | c.101 others(34): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |