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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX25_chr4_185204598_185368966 | 185224521 | ATATATAC others(43): Show |
A | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 274 | 0.0036 | -50 | c.429 others(69): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151651319 | GGGCGGGG others(43): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0106 | 1 | 364 | 0.0027 | -50 | c.544 others(67): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125458831 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01891.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(25): Show |
28 | 358 | 0.0782 | -50 | c.945 others(67): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268135 | TGGCCAGC others(43): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG03831.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0013a0001c0006t0039 | a0001c0006t0013g0192 a0001c0006t0013g0231 a0001c0006t0013g0232 others(2): Show |
5 | 367 | 0.0136 | -50 | c.621 others(67): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268853 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0085 a0001c0001t0002g0132 a0001c0001t0008g0160 |
3 | 241 | 0.0124 | -50 | c.621 others(65): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SOD1_chr21_31654693_31673931 | 31658035 | GGGCCCAG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 others(4): Show |
28 | 424 | 0.0660 | -50 | c.-17 others(61): Show |
SOD1 | ENSG00000142168.15 | transcript | ENST00000270142.11 | protein_coding | 1657 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02735.hp2 others(3): Show |
a0002a0003a0007 | a0002c0003a0003c0004a0007c0008 | a0002c0003t0001a0003c0004t0001a0007c0008t0001 | a0002c0003t0001g0003 a0003c0004t0001g0020 a0003c0004t0001g0186 others(3): Show |
6 | 64 | 0.0938 | -50 | c.*11 others(61): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731493 | TCTCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0008 | a0008c0036 | a0008c0036t0070 | a0008c0036t0070g0218 | 1 | 306 | 0.0033 | -50 | c.-41 others(67): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185796840 | GGGCTGGG others(43): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(12): Show | a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0163 others(20): Show |
23 | 310 | 0.0742 | -50 | c.-23 others(71): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837257 | TTATATAA others(43): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0021a0001c0001t0032others(8): Show | a0001c0001t0015g0091 a0001c0001t0021g0139 a0001c0001t0032g0141 others(8): Show |
11 | 204 | 0.0539 | -50 | c.481 others(67): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230497524 | GAGGAGAG others(43): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0123 | 1 | 278 | 0.0036 | -50 | c.164 others(67): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497534 | GAGGAGAG others(43): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 197 | 0.0051 | -50 | c.164 others(67): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112382885 | AGGCTGAG others(43): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 390 | 0.0026 | -50 | c.94+ others(65): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213468484 | TATATATG others(43): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02559.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 others(6): Show |
9 | 86 | 0.1047 | -50 | c.943 others(69): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123015814 | ACCCCCCC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(16): Show |
19 | 260 | 0.0731 | -50 | c.187 others(71): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48382802 | GGGGGGCT others(43): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp2 others(67): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(7): Show | a0001c0001t0002g0100 a0001c0001t0002g0152 a0001c0001t0002g0153 others(67): Show |
70 | 320 | 0.2188 | -50 | c.909 others(67): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384329 | GGACAGGG others(43): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG02257.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0235 a0001c0001t0008g0239 a0001c0001t0008g0244 others(5): Show |
8 | 312 | 0.0256 | -50 | c.909 others(65): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73156136 | ACACTCTC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0214 | 1 | 200 | 0.0050 | -50 | c.-15 others(61): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 706 | chr7 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092432 | TATATATG others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(71): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0005a0004c0003others(7): Show | a0001c0001t0002a0003c0005t0001a0003c0005t0006others(11): Show | a0001c0001t0002g0005 a0001c0001t0002g0082 a0001c0001t0002g0224 others(71): Show |
74 | 232 | 0.3190 | -50 | c.246 others(69): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47588026 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 39 | 0.0256 | -50 | c.109 others(69): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148210246 | ATTTCTGC others(43): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 148 | 0.0068 | -50 | c.82- others(65): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1176580 | TCACACAG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp2 HG03491.hp2 HG03710.hp1 others(1): Show |
a0002a0004 | a0002c0007a0004c0016 | a0002c0007t0003a0002c0007t0006a0004c0016t0003 | a0002c0007t0003g0021 a0002c0007t0006g0073 a0004c0016t0003g0072 |
4 | 430 | 0.0093 | -50 | c.-40 others(61): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 3998 | chr4 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415667 | GGGAGGGG others(43): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0179 | 1 | 341 | 0.0029 | -50 | c.233 others(69): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415677 | GGGAGGGG others(43): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
a0002a0010 | a0002c0004a0010c0009 | a0002c0004t0001a0010c0009t0001 | a0002c0004t0001g0106 a0002c0004t0001g0110 a0002c0004t0001g0115 others(1): Show |
4 | 320 | 0.0125 | -50 | c.233 others(69): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45586988 | ATTTTAAA others(43): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | 339 | 0.0059 | -50 | c.649 others(67): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45587037 | ATTTTTAA others(43): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0014a0002c0002 | a0001c0014t0001a0002c0002t0001 | a0001c0014t0001g0179 a0002c0002t0001g0006 a0002c0002t0001g0009 others(1): Show |
4 | 264 | 0.0152 | -50 | c.649 others(67): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121239196 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0265 | 1 | 272 | 0.0037 | -50 | c.68- others(67): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239239 | ATATATAC others(43): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0259 | 1 | 272 | 0.0037 | -50 | c.68- others(67): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54233496 | CAGCCCCC others(43): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0092 | 1 | 278 | 0.0036 | -50 | c.928 others(67): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240059 | TGTGTGTG others(43): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 278 | 0.0036 | -50 | c.856 others(65): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
ST3GAL1_chr8_133449848_133576887 | 133540756 | TATATAGA others(43): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0147 | 1 | 330 | 0.0030 | -50 | c.-42 others(69): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186938970 | GTAGGGAG others(43): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0016a0001c0001t0066others(7): Show | a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0016g0009 others(13): Show |
16 | 360 | 0.0444 | -50 | c.-32 others(69): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76277540 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 102 | 0.0098 | -50 | c.19- others(67): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST7L_chr1_112518514_112624141 | 112610701 | ACATCACA others(43): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 362 | 0.0028 | -50 | c.451 others(64): Show |
ST7L | ENSG00000007341.19 | transcript | ENST00000358039.9 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
STIM1_chr11_3850664_4098208 | 3895709 | TCTTTCTT others(43): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192 | 1 | 297 | 0.0034 | -50 | c.139 others(69): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3895717 | TCTTTCTT others(43): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0297 | 1 | 298 | 0.0034 | -50 | c.139 others(69): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23752560 | CAAACTTC others(43): Show |
C | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 402 | 0.0025 | -50 | c.101 others(67): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5316388 | AATATATT others(43): Show |
A | intron_variant | MODIFIER | NA18966.hp2 NA19087.hp1 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0045 a0002c0002t0001g0094 a0002c0002t0003g0100 |
3 | 77 | 0.0390 | -50 | c.261 others(69): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48555804 | CGGCTGGC others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(129): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0030 others(128): Show |
132 | 374 | 0.3529 | -50 | c.-47 others(69): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81308817 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | NA18747.hp1 NA18949.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0099 a0001c0002t0013g0078 |
2 | 215 | 0.0093 | -50 | c.742 others(69): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013340 | CCTCTTCC others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0104 a0001c0001t0007g0120 |
2 | 264 | 0.0076 | -50 | c.-29 others(61): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2703 | chr16 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771959 | TGTATCAT others(43): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG03453.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0132 others(5): Show |
8 | 323 | 0.0248 | -50 | c.439 others(65): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76046299 | TGTGTGTG others(43): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 354 | 0.0028 | -50 | c.-5+ others(65): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SUMO3_chr21_44800617_44823062 | 44811123 | TATACACA others(43): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 404 | 0.0025 | -50 | c.151 others(67): Show |
SUMO3 | ENSG00000184900.16 | transcript | ENST00000332859.11 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45288545 | GTGTATAT others(43): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02145.hp1 HG02155.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0002 | a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0002t0002g0120 others(3): Show |
6 | 261 | 0.0230 | -50 | c.101 others(69): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45288563 | ATGTATAT others(43): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0002 | a0001c0001t0010g0163 a0001c0002t0002g0100 a0001c0002t0002g0101 others(28): Show |
31 | 252 | 0.1230 | -50 | c.101 others(69): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76171660 | TGGGGGGT others(43): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02056.hp1 HG02723.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0018a0001c0002t0100others(5): Show | a0001c0001t0003g0188 a0001c0001t0018g0067 a0001c0002t0100g0206 others(5): Show |
8 | 232 | 0.0345 | -50 | c.581 others(69): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76171866 | ACCCCGTC others(43): Show |
A | intron_variant | MODIFIER | HG03486.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0083a0002c0003t0026 | a0001c0001t0083g0204 a0002c0003t0026g0230 |
2 | 231 | 0.0087 | -50 | c.581 others(69): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76336054 | ACCCCCCC others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00738.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(40): Show | a0001c0001t0008g0106 a0001c0001t0008g0127 a0001c0001t0008g0130 others(51): Show |
54 | 232 | 0.2328 | -50 | c.*10 others(63): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2099 | chr5 | TogoVar | |||||||
SWI5_chr9_128271276_128293989 | 128293220 | TCAGGGGC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 384 | 0.0026 | -50 | c.*45 others(61): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 4232 | chr9 | TogoVar |