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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DET1_chr15_88507480_88551681 | 88536770 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show |
11 | 282 | 0.0390 | 7 | c.-10 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
DEUP1_chr11_93325742_93443470 | 93329041 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(114): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0055 others(109): Show |
117 | 224 | 0.5223 | 7 | c.-17 others(18): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 1700 | chr11 | TogoVar | |||||||
DEUP1_chr11_93325742_93443470 | 93379751 | C | CATGCACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0016others(2): Show | a0001c0001t0005a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0005g0093 a0001c0001t0005g0100 a0002c0002t0001g0003 others(110): Show |
123 | 365 | 0.3370 | 7 | c.790 others(24): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DFFB_chr1_3852476_3890429 | 3856816 | G | GCCCGCGC | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0018a0001c0002t0002others(3): Show | a0001c0001t0006g0162 a0001c0001t0018g0163 a0001c0002t0002g0160 others(9): Show |
12 | 291 | 0.0412 | 7 | c.-78 others(16): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 659 | chr1 | TogoVar | |||||||
DGCR2_chr22_19031286_19127412 | 19063086 | T | TCCATGTC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(180): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0050a0002c0002t0002a0002c0002t0003others(33): Show | a0001c0001t0050g0334 a0002c0002t0002g0006 a0002c0002t0002g0133 others(173): Show |
183 | 342 | 0.5351 | 7 | c.625 others(22): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 5/9 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20104846 | C | CGAGGGCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0021a0003c0003t0005 | a0001c0001t0005g0011 a0001c0001t0005g0025 a0001c0001t0005g0033 others(11): Show |
23 | 418 | 0.0550 | 7 | c.178 others(26): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20104859 | G | GCTGCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0021a0003c0003t0005 | a0001c0001t0005g0011 a0001c0001t0005g0025 a0001c0001t0005g0033 others(11): Show |
23 | 418 | 0.0550 | 7 | c.178 others(26): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14265318 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(67): Show |
70 | 90 | 0.7778 | 7 | c.212 others(28): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14508813 | A | ATCTAGTG | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0003a0001c0002t0029a0001c0003t0001others(3): Show | a0001c0002t0003g0072 a0001c0002t0029g0002 a0001c0003t0001g0006 others(3): Show |
6 | 146 | 0.0411 | 7 | c.177 others(28): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 20/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14695494 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 others(39): Show |
42 | 71 | 0.5915 | 7 | c.592 others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 8/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14769228 | G | GAGAAGAA | intron_variant | MODIFIER | HG02145.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0036a0001c0009t0002 | a0001c0003t0036g0050 a0001c0009t0002g0082 |
2 | 90 | 0.0222 | 7 | c.71- others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14792730 | G | GCATAATC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0091 others(73): Show |
76 | 146 | 0.5205 | 7 | c.71- others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233438731 | T | TTTTTTTA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00673.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0024a0001c0001t0039others(18): Show | a0001c0001t0006g0002 a0001c0001t0006g0175 a0001c0001t0006g0176 others(41): Show |
46 | 334 | 0.1377 | 7 | c.108 others(24): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186194803 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01070.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(2): Show | a0001c0002t0003a0001c0002t0008a0002c0001t0001others(4): Show | a0001c0002t0003g0211 a0001c0002t0008g0214 a0002c0001t0001g0148 others(5): Show |
8 | 52 | 0.1538 | 7 | c.191 others(26): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 21/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186237220 | G | GTCTTCTT | intron_variant | MODIFIER | HG01256.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0005 | a0001c0002t0010g0162 a0001c0003t0005g0109 |
2 | 232 | 0.0086 | 7 | c.182 others(26): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 20/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186277137 | A | AGATTGAT | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01256.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0002a0002c0001t0004others(1): Show | a0001c0002t0003g0210 a0001c0002t0003g0211 a0002c0001t0002g0100 others(3): Show |
6 | 232 | 0.0259 | 7 | c.793 others(24): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 9/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186348451 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02717.hp2 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0003a0004c0008others(2): Show | a0001c0002t0003a0001c0002t0046a0001c0003t0003others(4): Show | a0001c0002t0003g0179 a0001c0002t0046g0173 a0001c0003t0003g0175 others(6): Show |
9 | 195 | 0.0462 | 7 | c.-24 others(28): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42087044 | A | ACACACAC | intron_variant | MODIFIER | HG02135.hp1 HG04228.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023a0001c0001t0056 | a0001c0001t0002g0052 a0001c0001t0023g0065 a0001c0001t0056g0046 |
3 | 57 | 0.0526 | 7 | c.192 others(26): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42197267 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(66): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0004a0002c0005others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(21): Show | a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 others(66): Show |
69 | 312 | 0.2212 | 7 | c.216 others(26): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137649954 | C | CCAACAAT | intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0014a0001c0003t0035a0001c0007t0005others(2): Show | a0001c0002t0014g0052 a0001c0003t0035g0019 a0001c0007t0005g0067 others(2): Show |
5 | 92 | 0.0543 | 7 | c.739 others(24): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 5/32 | chr7 | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91207161 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
a0001a0003a0012others(2): Show | a0001c0001a0003c0003a0012c0012others(2): Show | a0001c0001t0001a0003c0003t0001a0012c0012t0001others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0060 others(11): Show |
14 | 16 | 0.8750 | 7 | c.156 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHCR24_chr1_54844627_54892195 | 54879352 | A | AAAAAAAG | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01069.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0003 | a0001c0001t0001g0009 a0001c0001t0001g0244 a0001c0001t0001g0245 others(11): Show |
18 | 361 | 0.0499 | 7 | c.388 others(24): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51787902 | A | AATTATAT | intron_variant | MODIFIER | NA18971.hp1 NA18972.hp1 NA19001.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0099 others(2): Show |
9 | 417 | 0.0216 | 7 | c.301 others(24): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 4/8 | chr13 | TogoVar | |||||||
DHRS3_chr1_12562910_12623210 | 12617788 | T | TAAAAAAA | 5_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01928.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0032a0001c0002t0015others(2): Show | a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0015g0086 others(6): Show |
9 | 30 | 0.3000 | 7 | c.-44 others(16): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 1/6 | 441 | chr1 | TogoVar | ||||||
DHRS4L2_chr14_23983929_24011403 | 24001957 | C | CTTTTTTT | intron_variant | MODIFIER | HG02683.hp2 HG03710.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 |
3 | 6 | 0.5000 | 7 | c.665 others(22): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23953569 | C | CGCTTTGA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(62): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0004a0002c0013others(7): Show | a0002c0002t0002a0002c0004t0002a0002c0013t0002others(7): Show | a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0019 others(44): Show |
65 | 266 | 0.2444 | 7 | c.-22 others(16): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 200 | chr14 | TogoVar | |||||||
DHRS7B_chr17_21121964_21196420 | 21138066 | T | TTAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02074.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show |
4 | 248 | 0.0161 | 7 | c.20+ others(24): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
DHRS7B_chr17_21121964_21196420 | 21140022 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0158 others(4): Show |
7 | 101 | 0.0693 | 7 | c.20+ others(24): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21141640 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(85): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0005 a0001c0001t0001g0238 a0001c0001t0001g0239 others(84): Show |
88 | 188 | 0.4681 | 7 | c.20+ others(24): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2248432 | C | CAAAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG02004.hp2 HG02071.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0004a0004c0014 | a0002c0002t0003a0004c0004t0003a0004c0014t0003 | a0002c0002t0003g0012 a0004c0004t0003g0010 a0004c0004t0003g0014 others(2): Show |
5 | 35 | 0.1429 | 7 | c.597 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314230 | G | GAGGGAAT | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 NA18943.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0019 a0001c0001t0001g0037 a0002c0002t0004g0035 |
3 | 48 | 0.0625 | 7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314244 | A | AGGGAATG | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01496.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0037 a0002c0002t0002g0005 a0002c0002t0003g0012 others(4): Show |
7 | 43 | 0.1628 | 7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314362 | A | AGGGAGGG | intron_variant | MODIFIER | HG02895.hp1 HG03471.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0005 | a0002c0002t0004g0028 a0003c0003t0005g0027 |
2 | 39 | 0.0513 | 7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314380 | A | AGGGAGAG | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02630.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0003others(1): Show | a0001c0001t0001a0002c0005t0008a0003c0003t0013others(1): Show | a0001c0001t0001g0022 a0002c0005t0008g0007 a0003c0003t0013g0002 others(1): Show |
4 | 43 | 0.0930 | 7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2323067 | G | GCGCCAGC | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01261.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(13): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 others(25): Show |
28 | 48 | 0.5833 | 7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2460582 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01934.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(7): Show |
10 | 35 | 0.2857 | 7 | c.110 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12076995 | A | AAAAAAAG | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(5): Show |
8 | 222 | 0.0360 | 7 | c.155 others(24): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12091411 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00642.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(1): Show | a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0003t0001g0175 others(23): Show |
26 | 31 | 0.8387 | 7 | c.988 others(20): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01167.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0021 | a0001c0001t0001a0003c0004t0001a0003c0004t0004others(2): Show | a0001c0001t0001g0331 a0003c0004t0001g0155 a0003c0004t0001g0159 others(10): Show |
13 | 127 | 0.1024 | 7 | c.175 others(22): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GACACCCC | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01081.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0110 others(23): Show |
26 | 107 | 0.2430 | 7 | c.*66 others(18): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GCCCCCCC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01255.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0147 a0001c0001t0001g0264 a0001c0001t0001g0314 others(13): Show |
16 | 97 | 0.1649 | 7 | c.*66 others(18): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0066 others(5): Show |
8 | 29 | 0.2759 | 7 | c.108 others(26): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT | intron_variant | MODIFIER | HG01255.hp2 HG01952.hp1 HG02015.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(7): Show |
11 | 153 | 0.0719 | 7 | c.366 others(22): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47829315 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG01952.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0033 others(6): Show |
9 | 176 | 0.0511 | 7 | c.366 others(22): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | chr3 | TogoVar | |||||||
DHX35_chr20_38957344_39044721 | 39020656 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01361.hp2 others(17): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(15): Show |
20 | 149 | 0.1342 | 7 | c.149 others(26): Show |
DHX35 | ENSG00000101452.15 | transcript | ENST00000252011.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DHX40_chr17_59560610_59613345 | 59580034 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01884.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0097 a0001c0001t0001g0112 others(3): Show |
6 | 140 | 0.0429 | 7 | c.134 others(24): Show |
DHX40 | ENSG00000108406.10 | transcript | ENST00000251241.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHX57_chr2_38792729_38880934 | 38850692 | C | CAGGGAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(255): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0043 others(250): Show |
258 | 282 | 0.9149 | 7 | c.203 others(26): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 9/23 | chr2 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 97149730 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01192.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0062 others(21): Show |
24 | 65 | 0.3692 | 7 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97187281 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01071.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0058 others(24): Show |
27 | 30 | 0.9000 | 7 | c.271 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97226337 | C | CGTTTTTT | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0003g0100 others(3): Show |
6 | 143 | 0.0420 | 7 | c.272 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar |