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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(947): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 141 | 0.0071 | 954 | c.41- others(971): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(947): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 51 | 0.0392 | 954 | c.*24 others(965): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(948): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0073 | a0001c0073t0002 | a0001c0073t0002g0188 | 1 | 204 | 0.0049 | 955 | c.259 others(976): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(948): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19005.hp2 |
a0001a0013 | a0001c0026a0013c0033 | a0001c0026t0001a0013c0033t0001 | a0001c0026t0001g0067 a0013c0033t0001g0166 |
2 | 52 | 0.0385 | 955 | c.305 others(972): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(948): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 32 | 0.0313 | 955 | c.56- others(968): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819332 | C | CCCCTCTT others(948): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 1 | 64 | 0.0156 | 955 | c.56- others(968): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111326188 | G | GTTTTGTT others(948): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0040 | 1 | 35 | 0.0286 | 955 | c.292 others(974): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 399997 | T | TCCACCAC others(948): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0048 | a0001c0048t0013 | a0001c0048t0013g0219 | 1 | 196 | 0.0051 | 955 | c.323 others(972): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087589 | A | ATTGTTGT others(948): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0012 | 1 | 131 | 0.0076 | 955 | c.108 others(974): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(948): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0010g0018 |
2 | 16 | 0.1250 | 955 | c.348 others(974): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(948): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 15 | 0.0667 | 955 | c.348 others(974): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237121 | G | GGGAGAGG others(948): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | 955 | c.-40 others(966): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3973 | chr11 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(948): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 132 | 0.0076 | 955 | c.94- others(968): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(948): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 132 | 0.0076 | 955 | c.94- others(968): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(948): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 132 | 0.0076 | 955 | c.94- others(968): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(948): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02083.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0185 others(2): Show |
5 | 136 | 0.0368 | 955 | c.94- others(968): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(948): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 13 | 0.0769 | 955 | c.-79 others(964): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(948): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0015 | a0002c0015t0029 | a0002c0015t0029g0209 | 1 | 100 | 0.0100 | 955 | c.623 others(972): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(948): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0103 | 1 | 16 | 0.0625 | 955 | c.56- others(972): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(948): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0235 | 1 | 8 | 0.1250 | 955 | c.115 others(972): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(948): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19240.hp1 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0009a0002c0006t0009 | a0001c0005t0009g0163 a0002c0006t0009g0001 |
2 | 9 | 0.2222 | 955 | c.115 others(972): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(948): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0001 | 1 | 8 | 0.1250 | 955 | c.115 others(972): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(948): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0037 | 1 | 8 | 0.1250 | 955 | c.115 others(972): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(948): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 |
a0001a0002 | a0001c0018a0002c0019 | a0001c0018t0004a0002c0019t0004 | a0001c0018t0004g0190 a0002c0019t0004g0242 |
2 | 9 | 0.2222 | 955 | c.115 others(972): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(948): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 8 | 0.1250 | 955 | c.641 others(970): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(948): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 353 | 0.0028 | 955 | c.-7- others(968): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811232 | T | TCCCTCCC others(948): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 148 | 0.0068 | 955 | c.773 others(970): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718591 | C | CGTGCTGG others(948): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0219 | 1 | 392 | 0.0026 | 955 | c.719 others(970): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(948): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0006a0002c0005t0006 | a0002c0002t0006g0012 a0002c0005t0006g0104 |
2 | 339 | 0.0059 | 955 | c.*16 others(966): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(948): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0001a0011c0011t0001 | a0001c0001t0001g0262 a0011c0011t0001g0094 |
2 | 25 | 0.0800 | 955 | c.371 others(972): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(948): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 24 | 0.0417 | 955 | c.371 others(972): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 100902 | T | TAATCCAT others(948): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0032others(1): Show | a0001c0002t0003a0001c0011t0006a0001c0011t0083others(2): Show | a0001c0002t0003g0133 a0001c0011t0006g0135 a0001c0011t0083g0082 others(2): Show |
5 | 189 | 0.0265 | 955 | c.45+ others(970): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(948): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG03540.hp1 others(1): Show |
a0002a0008 | a0002c0071a0008c0035a0008c0036 | a0002c0071t0003a0008c0035t0003a0008c0036t0003 | a0002c0071t0003g0094 a0008c0035t0003g0093 a0008c0035t0003g0095 others(1): Show |
4 | 136 | 0.0294 | 955 | c.533 others(972): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(948): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 67 | 0.0149 | 955 | c.306 others(974): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(948): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0153 | 1 | 19 | 0.0526 | 955 | c.24+ others(972): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(948): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 126 | 0.0079 | 955 | c.45- others(970): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(948): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0025 | a0003c0025t0005 | a0003c0025t0005g0186 | 1 | 126 | 0.0079 | 955 | c.45- others(970): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934237 | A | AGGCGGCT others(948): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 399 | 0.0025 | 955 | c.843 others(972): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(948): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 246 | 0.0041 | 955 | c.626 others(972): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642182 | G | GGGGGTGG others(948): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 416 | 0.0024 | 955 | c.*65 others(966): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4432 | chr20 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(948): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 285 | 0.0035 | 955 | c.199 others(972): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(948): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 a0001c0001t0004g0242 |
2 | 263 | 0.0076 | 955 | c.199 others(972): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(948): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 262 | 0.0038 | 955 | c.199 others(972): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(948): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 262 | 0.0038 | 955 | c.199 others(972): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(948): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001 | a0001c0001t0014g0004 a0001c0002t0001g0073 |
2 | 83 | 0.0241 | 955 | c.79+ others(972): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(948): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03710.hp1 |
a0001a0008 | a0001c0002a0008c0017 | a0001c0002t0004a0008c0017t0001 | a0001c0002t0004g0029 a0008c0017t0001g0017 |
2 | 65 | 0.0308 | 955 | c.79+ others(972): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1258679 | C | CTGAGCCC others(948): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0011 | 1 | 194 | 0.0052 | 955 | c.*31 others(964): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(948): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0091 | 1 | 98 | 0.0102 | 955 | c.41- others(972): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(948): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 289 | 0.0035 | 955 | c.*35 others(974): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(948): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 99 | 0.0101 | 955 | c.392 others(972): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar |