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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(1183): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0012 | 1 | 168 | 0.0060 | 1190 | c.-26 others(1199): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1183): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 208 | 0.0048 | 1190 | c.192 others(1209): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AGAGGAGG others(1183): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0042 | a0042c0123 | a0042c0123t0001 | a0042c0123t0001g0224 | 1 | 252 | 0.0040 | 1190 | c.118 others(1209): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634818 | C | CCCTTCCT others(1183): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 250 | 0.0040 | 1190 | c.105 others(1207): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1183): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0037a0001c0001t0001g0158others(1): Show | 8 | 374 | 0.0214 | 1190 | c.772 others(1205): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1183): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01496.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0040others(10): Show | 28 | 374 | 0.0749 | 1190 | c.772 others(1205): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1183): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 374 | 0.0027 | 1190 | c.772 others(1205): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1183): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03017.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0103a0001c0001t0001g0104 | 3 | 374 | 0.0080 | 1190 | c.772 others(1205): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148869593 | C | CGCTCAAA others(1183): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 380 | 0.0026 | 1190 | c.-8+ others(1207): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(1183): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0088 | a0088c0045 | a0088c0045t0001 | a0088c0045t0001g0005 | 1 | 174 | 0.0058 | 1190 | c.193 others(1209): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HIC1_chr17_2050103_2068241 | 2052927 | T | TGGGGTTA others(1183): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 1190 | c.-23 others(1201): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2175 | chr17 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTCCCTC others(1183): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0012 | a0012c0009 | a0012c0009t0001 | a0012c0009t0001g0008 | 1 | 254 | 0.0039 | 1190 | c.-84 others(1207): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1183): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0136a0001c0001t0005g0190 | 2 | 242 | 0.0083 | 1190 | c.174 others(1209): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1183): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 242 | 0.0041 | 1190 | c.174 others(1209): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LMF1_chr16_848634_975984 | 858950 | A | ACGGGACG others(1183): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 294 | 0.0034 | 1190 | c.153 others(1209): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1183): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0050 | 1 | 108 | 0.0093 | 1190 | c.648 others(1209): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502045 | C | CCCCCACA others(1183): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0037 | 1 | 292 | 0.0034 | 1190 | c.218 others(1207): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1183): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0352 | 1 | 384 | 0.0026 | 1190 | c.160 others(1207): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150277 | C | CACCACAC others(1183): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 294 | 0.0034 | 1190 | c.902 others(1205): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1183): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1190 | c.*31 others(1201): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1183): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1190 | c.*31 others(1201): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241115969 | G | GTCCTCAA others(1183): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0008 | a0008c0059 | a0008c0059t0014 | a0008c0059t0014g0039 | 1 | 376 | 0.0027 | 1190 | c.307 others(1207): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1183): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0123 | 1 | 295 | 0.0034 | 1190 | c.126 others(1209): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLPI_chr20_45247239_45259564 | 45251918 | T | TGGCAGGA others(1183): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 1190 | c.*49 others(1199): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 320 | chr20 | TogoVar | ||||||
SLPI_chr20_45247239_45259564 | 45251918 | T | TGGCAGGA others(1183): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 1190 | c.*49 others(1199): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 320 | chr20 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222488 | G | GCGGCGCA others(1183): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 190 | 0.0053 | 1190 | c.719 others(1209): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222599 | C | CTGGAGGT others(1183): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0092 | 1 | 190 | 0.0053 | 1190 | c.719 others(1209): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1183): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 1190 | c.*24 others(1201): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1184): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0101 | 1 | 242 | 0.0041 | 1191 | c.927 others(1208): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1184): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 150 | 0.0067 | 1191 | c.276 others(1210): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1184): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0077 | 1 | 288 | 0.0035 | 1191 | c.303 others(1210): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(1184): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG02630.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0051others(8): Show | a0001c0001t0011g0005a0001c0001t0014g0106a0001c0001t0051g0083others(8): Show | 11 | 106 | 0.1038 | 1191 | c.169 others(1210): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(1184): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0015 | 1 | 106 | 0.0094 | 1191 | c.169 others(1210): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939822 | G | GAAAGAAA others(1184): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0056 | 2 | 258 | 0.0078 | 1191 | c.403 others(1206): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1184): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 258 | 0.0039 | 1191 | c.403 others(1206): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878192 | T | TATATATA others(1184): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 208 | 0.0048 | 1191 | c.192 others(1210): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1184): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 148 | 0.0068 | 1191 | c.183 others(1210): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634859 | T | TCTCCTTT others(1184): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 250 | 0.0040 | 1191 | c.105 others(1208): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1184): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 374 | 0.0027 | 1191 | c.772 others(1206): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1184): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 374 | 0.0027 | 1191 | c.772 others(1206): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22577987 | G | GTGTGCAT others(1184): Show |
intron_variant | MODIFIER | HG02559.hp2 HG06807.hp1 |
a0001 | a0001c0022 | a0001c0022t0004 | a0001c0022t0004g0027a0001c0022t0004g0028 | 2 | 342 | 0.0059 | 1191 | c.823 others(1208): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EZH2_chr7_148802383_148889291 | 148869593 | C | CGCTCAAA others(1184): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 380 | 0.0026 | 1191 | c.-8+ others(1208): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551509 | G | GATGGGAG others(1184): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 46 | 0.0217 | 1191 | c.-17 others(1210): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252887 | C | CCACCACC others(1184): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 366 | 0.0027 | 1191 | c.666 others(1208): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATCTCCT others(1184): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 274 | 0.0037 | 1191 | c.804 others(1208): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(1184): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 274 | 0.0037 | 1191 | c.804 others(1208): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184617 | C | CCAACCCA others(1184): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0260 | 1 | 358 | 0.0028 | 1191 | c.*64 others(1202): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3828 | chr21 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543906 | G | GGGGGACA others(1184): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 286 | 0.0035 | 1191 | c.153 others(1210): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(1184): Show |
intron_variant | MODIFIER | HG03486.hp2 NA20129.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0003 | a0001c0001t0002g0038a0005c0005t0003g0038 | 2 | 266 | 0.0075 | 1191 | c.-34 others(1206): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246071781 | C | CTGTAGTT others(1184): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 150 | 0.0067 | 1191 | c.532 others(1212): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar |