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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(390): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 | 1 | 6 | 0.1667 | 397 | c.138 others(416): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43906204 | C | CCTTCCTG others(390): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 272 | 0.0037 | 397 | c.744 others(414): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC6_chr9_127880321_127904603 | 127882566 | G | GGAAAGGA others(390): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 14 | 0.0714 | 397 | c.*40 others(408): Show |
ST6GALNAC6 | ENSG00000160408.16 | transcript | ENST00000373146.6 | protein_coding | 2754 | chr9 | TogoVar | |||||||
ST6GALNAC6_chr9_127880321_127904603 | 127882566 | G | GGAAAGGA others(390): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02738.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0129 |
3 | 16 | 0.1875 | 397 | c.*40 others(408): Show |
ST6GALNAC6 | ENSG00000160408.16 | transcript | ENST00000373146.6 | protein_coding | 2754 | chr9 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 81 | 0.0123 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00735.hp1 others(102): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(68): Show |
105 | 185 | 0.5676 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0260 | 1 | 81 | 0.0123 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 81 | 0.0123 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02738.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0202 |
3 | 83 | 0.0361 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 81 | 0.0123 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571922 | A | AGGGAGGT others(390): Show |
intron_variant | MODIFIER | HG02622.hp1 HG04204.hp1 NA20300.hp1 |
a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0027 a0003c0005t0006g0101 |
3 | 83 | 0.0361 | 397 | c.104 others(416): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TTATATAT others(390): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 149 | 0.0067 | 397 | c.*73 others(408): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(390): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 72 | 0.0139 | 397 | c.309 others(416): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(390): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0179 | 1 | 72 | 0.0139 | 397 | c.309 others(416): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(390): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0276 | 1 | 72 | 0.0139 | 397 | c.309 others(416): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(390): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 72 | 0.0139 | 397 | c.309 others(416): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(390): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 7 | 0.1429 | 397 | c.142 others(418): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(390): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0048 | 1 | 7 | 0.1429 | 397 | c.142 others(418): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272785 | C | CCACACAT others(390): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 186 | 0.0054 | 397 | c.228 others(414): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273296 | C | CCACACAT others(390): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0176 | 1 | 226 | 0.0044 | 397 | c.228 others(416): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(390): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | 9 | 0.2222 | 397 | c.657 others(412): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870245 | A | ACACCCCA others(390): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 313 | 0.0032 | 397 | c.*35 others(416): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870359 | A | ACACACCA others(390): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 293 | 0.0034 | 397 | c.*35 others(416): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870359 | A | ACACACCA others(390): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 293 | 0.0034 | 397 | c.*35 others(416): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909157 | G | GTGTATGT others(390): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0247 others(1): Show |
4 | 6 | 0.6667 | 397 | c.*36 others(412): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196786 | A | ATATATAT others(390): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0049 | 1 | 3 | 0.3333 | 397 | c.213 others(416): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169105 | C | CCTCCCTC others(390): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0053 | 1 | 79 | 0.0127 | 397 | c.*92 others(406): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 838 | chrX | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATA others(390): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 236 | 0.0042 | 397 | c.856 others(414): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATA others(390): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 236 | 0.0042 | 397 | c.856 others(414): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881138 | T | TAATATAT others(390): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0157 | 1 | 49 | 0.0204 | 397 | c.*37 others(408): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | |||||||
WDR87_chr19_37879823_37911594 | 37881138 | T | TAATATAT others(390): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0017 | 1 | 49 | 0.0204 | 397 | c.*37 others(408): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975362 | T | TATAAATA others(391): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 219 | 0.0046 | 398 | c.130 others(417): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975362 | T | TATAAATA others(391): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 |
a0001a0007 | a0001c0062a0007c0047 | a0001c0062t0004a0007c0047t0007 | a0001c0062t0004g0226 a0007c0047t0007g0090 |
2 | 220 | 0.0091 | 398 | c.130 others(417): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289263 | C | CCGTGTCT others(391): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 260 | 0.0038 | 398 | c.*43 others(409): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3127 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016683 | G | GGGAGGGA others(391): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01123.hp1 others(49): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(5): Show |
52 | 281 | 0.1851 | 398 | c.-50 others(409): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4783 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016683 | G | GGGAGGGA others(391): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 230 | 0.0043 | 398 | c.-50 others(409): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4783 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016687 | G | GGGAGGAG others(391): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 358 | 0.0028 | 398 | c.-50 others(409): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4779 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016687 | G | GGGAGGAG others(391): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0000 a0001c0011t0001g0000 |
6 | 363 | 0.0165 | 398 | c.-50 others(409): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4779 | chr1 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(391): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03831.hp1 |
a0001a0005 | a0001c0001a0005c0061 | a0001c0001t0004a0005c0061t0003 | a0001c0001t0004g0034 a0005c0061t0003g0040 |
2 | 233 | 0.0086 | 398 | c.535 others(415): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(391): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 123 | 0.0081 | 398 | c.-1- others(413): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRL3_chr4_61195326_62083335 | 61847988 | A | ATATATAT others(391): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 54 | 0.0185 | 398 | c.148 others(419): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(391): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0134 | 1 | 57 | 0.0175 | 398 | c.62+ others(411): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(391): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 57 | 0.0175 | 398 | c.62+ others(411): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127882566 | G | GGAAAGGA others(391): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021a0001c0001t0029 | a0001c0001t0014g0157 a0001c0001t0021g0156 a0001c0001t0029g0159 |
3 | 17 | 0.1765 | 398 | c.-49 others(409): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4892 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4714168 | C | CCACATAT others(391): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0098 | 1 | 454 | 0.0022 | 398 | c.564 others(415): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(391): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0005 | 1 | 119 | 0.0084 | 398 | c.125 others(419): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1920031 | T | TATGGGTG others(391): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0089 | 1 | 153 | 0.0065 | 398 | c.214 others(417): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375137 | A | AGGAAGGG others(391): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0038 | a0002c0038t0003 | a0002c0038t0003g0020 | 1 | 169 | 0.0059 | 398 | c.784 others(413): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404308 | G | GGGGTGTG others(391): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0162 | 1 | 312 | 0.0032 | 398 | c.*27 others(409): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1136 | chr19 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(391): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 |
a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0293 a0008c0024t0001g0294 |
2 | 215 | 0.0093 | 398 | c.144 others(415): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |