| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OSBPL9_chr1_51612092_51794219 | 51628704 | GATGGAGC others(1823): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG02004.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0016 | a0001c0001t0011g0157a0001c0001t0011g0158a0001c0001t0016g0156 | 3 | 186 | 0.0161 | -1830 | c.111 others(19): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VPS13B_chr8_99008274_99882580 | 99201967 | CATAGAGT others(1823): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 134 | 0.0075 | -1830 | c.251 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GNA14_chr9_77418079_77653322 | 77551875 | CATGCCTG others(1822): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002 | a0001c0001t0007g0209a0001c0002t0002g0171 | 2 | 240 | 0.0083 | -1829 | c.125 others(19): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092032 | AGCGCCTA others(1822): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 340 | 0.0029 | -1829 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79893712 | CCATTCAC others(1821): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 312 | 0.0032 | -1828 | c.625 others(17): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KATNA1_chr6_149589873_149653714 | 149626535 | GCCTCCCA others(1820): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(1): Show | 4 | 296 | 0.0135 | -1827 | c.320 others(17): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| KCNB2_chr8_72532225_72943349 | 72660159 | AGCCTCTT others(1820): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 164 | 0.0061 | -1827 | c.579 others(19): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SMIM36_chr17_55444856_55516452 | 55500749 | TTCACTTA others(1820): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 340 | 0.0029 | -1827 | c.*17 others(20): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| ACSM2B_chr16_20531226_20581367 | 20559950 | TCACTTTA others(1819): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp2 |
a0009 | a0009c0015 | a0009c0015t0008 | a0009c0015t0008g0032a0009c0015t0008g0329 | 3 | 388 | 0.0077 | -1826 | c.178 others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50662751 | GCAGCGGC others(1819): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0041 | a0001c0001t0012g0002a0001c0001t0012g0007a0001c0001t0012g0011others(2): Show | 5 | 190 | 0.0263 | -1826 | c.658 others(17): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 940884 | AACACCTT others(1817): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020a0001c0001t0003g0070 | 2 | 242 | 0.0083 | -1824 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| LRSAM1_chr9_127446510_127508499 | 127469920 | GCGCCACT others(1815): Show |
G | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 340 | 0.0029 | -1822 | c.619 others(17): Show |
LRSAM1 | ENSG00000148356.15 | transcript | ENST00000300417.11 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11865090 | TTCCCCCG others(1814): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02630.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0012a0001c0001t0022others(14): Show | a0001c0001t0003g0017a0001c0001t0012g0244a0001c0001t0012g0245others(17): Show | 20 | 248 | 0.0807 | -1821 | c.851 others(15): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
| GNAL_chr18_11747085_11890685 | 11865090 | TTCCCCCG others(1814): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02630.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(14): Show | a0001c0001t0003g0263a0001c0001t0009g0224a0001c0001t0020g0070others(17): Show | 20 | 284 | 0.0704 | -1821 | c.620 others(15): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744702 | GGGGGTCG others(1814): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0064a0001c0004t0020 | a0001c0001t0003g0308a0001c0001t0064g0028a0001c0004t0020g0251others(1): Show | 4 | 366 | 0.0109 | -1821 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744724 | TTCGCCGT others(1814): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0259a0001c0001t0012g0260a0001c0001t0012g0290 | 3 | 366 | 0.0082 | -1821 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(1813): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02723.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0098a0002c0002t0101others(3): Show | a0001c0001t0008g0086a0002c0002t0098g0045a0002c0002t0101g0056others(3): Show | 6 | 162 | 0.0370 | -1820 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCL2L14_chr12_12065939_12104695 | 12099893 | CGGTATAA others(1811): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01167.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0271a0001c0002t0001g0006a0001c0002t0001g0014others(24): Show | 33 | 454 | 0.0727 | -1818 | c.*90 others(10): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 199 | chr12 | TogoVar | ||||||
| SERHL2_chr22_42548956_42579382 | 42571529 | GATTCTCC others(1811): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01109.hp2 | a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0198 | 1 | 432 | 0.0023 | -1818 | c.731 others(15): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TIGIT_chr3_114289028_114315288 | 114291658 | CAGATCCC others(1811): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0261 | 1 | 424 | 0.0024 | -1818 | c.-24 others(10): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 2369 | chr3 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231725 | CGTGGAGT others(1810): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0006a0001c0019 | a0001c0006t0001a0001c0019t0003 | a0001c0006t0001g0073a0001c0006t0001g0078a0001c0006t0001g0142others(1): Show | 4 | 183 | 0.0219 | -1817 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| PSG5_chr19_43162743_43191536 | 43163021 | TAATTATG others(1810): Show |
T | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0010 | a0010c0018 | a0010c0018t0003 | a0010c0018t0003g0103 | 1 | 430 | 0.0023 | -1817 | c.*34 others(11): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 4721 | chr19 | TogoVar | ||||||
| RAD21L1_chr20_1221044_1260876 | 1258454 | TAACTGAT others(1809): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp1 |
a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0050a0008c0009t0004g0051 | 2 | 364 | 0.0055 | -1816 | c.*39 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2579 | chr20 | TogoVar | ||||||
| IFIH1_chr2_162262074_162323684 | 162321869 | GAAAAATT others(1808): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0016 | 2 | 220 | 0.0091 | -1815 | c.-53 others(11): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 3186 | chr2 | TogoVar | ||||||
| URI1_chr19_29937239_30021612 | 29988192 | AGCTCTTT others(1808): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 328 | 0.0031 | -1815 | c.367 others(17): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 4/10 | chr19 | TogoVar | ||||||
| BCL2L13_chr22_17633757_17735855 | 17641989 | CGGGGTTT others(1807): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111a0001c0001t0002g0112 | 2 | 306 | 0.0065 | -1814 | c.-51 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1639521 | GAGGATGT others(1806): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0139 | 1 | 223 | 0.0045 | -1813 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1639560 | GTGTCCCA others(1806): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 223 | 0.0045 | -1813 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SDHA_chr5_213320_262082 | 258389 | CCTGCCAG others(1806): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01168.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0020a0002c0003t0004g0104 | 3 | 266 | 0.0113 | -1813 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1308 | chr5 | TogoVar | ||||||
| HACL1_chr3_15555699_15606569 | 15594051 | GGCCTCCC others(1805): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 428 | 0.0023 | -1812 | c.227 others(16): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637996 | GTGTCCCA others(1804): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 223 | 0.0045 | -1811 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1401498 | CTCCCTCC others(1804): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | -1811 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237542873 | GGGACAGT others(1804): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 286 | 0.0035 | -1811 | c.153 others(18): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RTL4_chrX_112078016_112462514 | 112376740 | TACTCGGT others(1804): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 134 | 0.0075 | -1811 | c.-28 others(21): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | chrX | TogoVar | ||||||
| PIK3C2G_chr12_18256518_18653416 | 18570336 | GTAGCTGG others(1803): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02559.hp1 others(7): Show |
a0005a0006a0014others(1): Show | a0005c0006a0005c0015a0006c0011others(3): Show | a0005c0006t0001a0005c0015t0001a0006c0011t0001others(3): Show | a0005c0006t0001g0070a0005c0015t0001g0010a0005c0015t0001g0069others(7): Show | 10 | 176 | 0.0568 | -1810 | c.401 others(19): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 29/32 | chr12 | TogoVar | ||||||
| DCANP1_chr5_135439214_135452348 | 135445852 | ATTCACAT others(1802): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18964.hp2 | a0000 | a0000c0000 | a0000c0000t0035 | a0000c0000t0035g0000 | 1 | 456 | 0.0022 | -1809 | c.-55 others(9): Show |
p.Met others(3): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 1496/3135 | 1/735 | 1/244 | chr5 | TogoVar | ||
| RPH3AL_chr17_207389_357807 | 253977 | TGCACGGC others(1802): Show |
T | intron_variant | MODIFIER | NA18999.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0011a0001c0001t0019g0012 | 2 | 133 | 0.0150 | -1809 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| TIFAB_chr5_135439226_135457351 | 135445852 | ATTCACAT others(1802): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0072 | 1 | 456 | 0.0022 | -1809 | c.*17 others(11): Show |
TIFAB | ENSG00000255833.2 | transcript | ENST00000537858.2 | protein_coding | 2/2 | 1793 | chr5 | TogoVar | |||||
| ADAMTS17_chr15_99966437_100346975 | 100069740 | GAAGCACT others(1799): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01257.hp2 HG01258.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0001c0014others(11): Show | a0001c0002t0002a0001c0007t0002a0001c0007t0018others(17): Show | a0001c0002t0002g0169a0001c0007t0002g0057a0001c0007t0018g0046others(19): Show | 22 | 228 | 0.0965 | -1806 | c.213 others(21): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
| TSPAN16_chr19_11291160_11320967 | 11302879 | TGGCTAAT others(1799): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0004c0005t0004 | a0001c0001t0004g0051a0001c0001t0004g0052a0001c0001t0004g0053others(1): Show | 4 | 382 | 0.0105 | -1806 | c.450 others(17): Show |
TSPAN16 | ENSG00000130167.14 | transcript | ENST00000590327.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TYW1_chr7_66991833_67244514 | 67232498 | GCCACTGC others(1799): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(78): Show |
a0002a0003a0008others(1): Show | a0002c0003a0002c0004a0002c0007others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(6): Show | a0002c0003t0002g0005a0002c0003t0002g0123a0002c0003t0002g0124others(78): Show | 81 | 364 | 0.2225 | -1806 | c.197 others(19): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67949026 | CGATTCTG others(1798): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 274 | 0.0037 | -1805 | c.792 others(18): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | chr17 | TogoVar | ||||||
| DACH2_chrX_86143451_86837602 | 86781338 | AAGAGCAA others(1798): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 166 | 0.0060 | -1805 | c.124 others(21): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PC_chr11_66843420_66963383 | 66944010 | AGTGGCTC others(1798): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(125): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(124): Show | 128 | 274 | 0.4672 | -1805 | c.-1+ others(15): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
| GLRA3_chr4_174631920_174834247 | 174704015 | CTGGGCAC others(1797): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0140a0001c0001t0001g0153others(64): Show | 68 | 296 | 0.2297 | -1804 | c.574 others(18): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
| GALNT15_chr3_16169680_16235165 | 16197901 | GTCTGGAA others(1794): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00639.hp1 others(102): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0021others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0002g0085a0001c0001t0002g0108a0001c0001t0004g0112others(98): Show | 105 | 388 | 0.2706 | -1801 | c.706 others(16): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTCHD4_chr6_47851673_48116197 | 48015039 | ACTTCTTC others(1794): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0112a0001c0001t0119 | a0001c0001t0029g0088a0001c0001t0112g0148a0001c0001t0119g0095 | 3 | 182 | 0.0165 | -1801 | c.418 others(17): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| FCF1_chr14_74708144_74743620 | 74741820 | AAAAAAAA others(1793): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 364 | 0.0028 | -1800 | c.*68 others(11): Show |
FCF1 | ENSG00000119616.11 | transcript | ENST00000341162.8 | protein_coding | 3201 | chr14 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 204652731 | TTTATGAG others(1793): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 NA18522.hp2 others(1): Show |
a0002a0003a0004 | a0002c0003a0003c0005a0004c0011others(1): Show | a0002c0003t0016a0003c0005t0005a0004c0011t0003others(1): Show | a0002c0003t0016g0046a0003c0005t0005g0045a0004c0011t0003g0043others(1): Show | 4 | 54 | 0.0741 | -1800 | c.121 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VTA1_chr6_142142263_142229685 | 142227886 | GTAGTATT others(1792): Show |
G | downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 334 | 0.0030 | -1799 | c.*92 others(12): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 3202 | chr6 | TogoVar |