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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(893): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(15): Show |
68 | 69 | 0.9855 | 900 | c.-28 others(911): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(893): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 |
2 | 3 | 0.6667 | 900 | c.-28 others(911): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(893): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 3 | 0.6667 | 900 | c.-28 others(911): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(893): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(30): Show |
101 | 102 | 0.9902 | 900 | c.-28 others(911): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429103 | G | GGCGTGAG others(893): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 378 | 0.0026 | 900 | c.-28 others(911): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2665 | chr11 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7146991 | T | TTGAGATG others(893): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02735.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013 | a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0004g0057 others(1): Show |
4 | 58 | 0.0690 | 900 | c.27+ others(917): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7146991 | T | TTGAGATG others(893): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 55 | 0.0182 | 900 | c.27+ others(917): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(893): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0050 a0001c0001t0031g0056 |
2 | 8 | 0.2500 | 900 | c.27+ others(917): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 220608 | C | CTCACTGA others(893): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01978.hp1 HG02148.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0001g0030 a0001c0001t0004g0087 a0001c0001t0012g0053 others(6): Show |
9 | 131 | 0.0687 | 900 | c.614 others(915): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 220608 | C | CTCACTGA others(893): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 123 | 0.0081 | 900 | c.614 others(915): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SH3GL3_chr15_83442341_83623743 | 83492361 | C | CATTGCCC others(893): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 322 | 0.0031 | 900 | c.45+ others(917): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197122 | C | CATCTATC others(893): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0330 | 1 | 395 | 0.0025 | 900 | c.107 others(917): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79139595 | A | ATATATAA others(893): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0008 | a0008c0016 | a0008c0016t0021 | a0008c0016t0021g0006 | 1 | 68 | 0.0147 | 900 | c.-66 others(917): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273260 | C | CATCAGAC others(893): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 330 | 0.0030 | 900 | c.228 others(917): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377606 | G | GCCCCACC others(893): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 309 | 0.0032 | 900 | c.-16 others(911): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1581 | chr19 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(893): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0085 |
2 | 9 | 0.2222 | 900 | c.*11 others(911): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(893): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19058.hp2 NA19070.hp1 others(1): Show |
a0002a0014 | a0002c0003a0014c0042 | a0002c0003t0004a0014c0042t0004 | a0002c0003t0004g0026 a0014c0042t0004g0246 |
4 | 274 | 0.0146 | 900 | c.871 others(917): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(893): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0155 | 1 | 271 | 0.0037 | 900 | c.871 others(917): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(893): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(78): Show |
83 | 92 | 0.9022 | 900 | c.*36 others(915): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64239084 | G | GAAGAAGA others(893): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 327 | 0.0031 | 900 | c.596 others(917): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(893): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 338 | 0.0030 | 900 | c.114 others(917): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(893): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 62 | 0.0161 | 900 | c.*53 others(911): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 510318 | A | ATATCAAA others(893): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0164 | 1 | 156 | 0.0064 | 900 | c.*88 others(911): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 8809 | chr17 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(894): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0037 | a0001c0001t0010g0000 a0001c0001t0037g0000 |
5 | 14 | 0.3571 | 901 | c.*10 others(914): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(894): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 83 | 0.0120 | 901 | c.784 others(916): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254770 | A | AACTACCA others(894): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 HG03516.hp2 |
a0001a0002 | a0001c0004a0002c0011 | a0001c0004t0003a0002c0011t0001 | a0001c0004t0003g0030 a0001c0004t0003g0075 a0002c0011t0001g0029 |
3 | 237 | 0.0127 | 901 | c.276 others(916): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882073 | G | GGGAGAAG others(894): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 173 | 0.0058 | 901 | c.303 others(920): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(894): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0002c0011t0001 | a0001c0001t0001g0053 a0002c0011t0001g0003 |
2 | 128 | 0.0156 | 901 | c.101 others(920): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(894): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0046a0002c0029others(4): Show | a0001c0001t0001a0001c0046t0001a0002c0029t0001others(4): Show | a0001c0001t0001g0059 a0001c0046t0001g0153 a0002c0029t0001g0131 others(6): Show |
9 | 135 | 0.0667 | 901 | c.101 others(920): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911546 | C | CTGGGGGG others(894): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0058a0002c0011 | a0001c0001t0001a0001c0058t0001a0002c0011t0001 | a0001c0001t0001g0058 a0001c0001t0001g0114 a0001c0058t0001g0033 others(1): Show |
4 | 168 | 0.0238 | 901 | c.101 others(920): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTTTT others(894): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 369 | 0.0027 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 256 | 0.0039 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 256 | 0.0039 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00741.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 others(35): Show |
57 | 312 | 0.1827 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 4 | 259 | 0.0154 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03942.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0249 a0001c0002t0001g0256 a0001c0002t0001g0258 others(1): Show |
4 | 164 | 0.0244 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03130.hp1 NA19002.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0164 a0001c0002t0001g0178 a0001c0002t0001g0183 others(3): Show |
6 | 166 | 0.0361 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 161 | 0.0062 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01517.hp2 HG02071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0050 others(9): Show |
14 | 174 | 0.0805 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(894): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 161 | 0.0062 | 901 | c.966 others(918): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(894): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 6 | 0.1667 | 901 | c.-17 others(920): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132240963 | C | CTATCCCC others(894): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0003 | a0001c0001t0001g0150 a0001c0014t0003g0146 |
2 | 179 | 0.0112 | 901 | c.107 others(920): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132240963 | C | CTATCCCC others(894): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG03453.hp1 |
a0001 | a0001c0014a0001c0019a0001c0029 | a0001c0014t0003a0001c0019t0003a0001c0029t0003 | a0001c0014t0003g0153 a0001c0019t0003g0145 a0001c0029t0003g0107 |
3 | 180 | 0.0167 | 901 | c.107 others(920): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(894): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0221 |
2 | 133 | 0.0150 | 901 | c.94- others(914): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(894): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 132 | 0.0076 | 901 | c.94- others(914): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(894): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 132 | 0.0076 | 901 | c.94- others(914): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(894): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0060 a0001c0001t0016g0068 |
2 | 133 | 0.0150 | 901 | c.94- others(914): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(894): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 5 | 0.2000 | 901 | c.-41 others(916): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MAP9_chr4_155337658_155381965 | 155349247 | C | CATTGTGA others(894): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(42): Show |
a0004a0009 | a0004c0005a0009c0017 | a0004c0005t0005a0004c0005t0010a0004c0005t0016others(4): Show | a0004c0005t0005g0006 a0004c0005t0005g0023 a0004c0005t0005g0024 others(18): Show |
45 | 340 | 0.1324 | 901 | c.182 others(920): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155349247 | C | CATTGTGA others(894): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18952.hp2 NA18994.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0020 a0002c0003t0011g0133 |
5 | 300 | 0.0167 | 901 | c.182 others(920): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar |