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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITPR2_chr12_26330352_26838194 | 26785445 | T | TGCCCGGC others(43): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0024a0001c0028 | a0001c0024t0010a0001c0028t0001a0001c0028t0010 | a0001c0024t0010g0126 a0001c0028t0001g0023 a0001c0028t0010g0127 |
3 | 79 | 0.0380 | 50 | c.163 others(67): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33690775 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0164 | 1 | 160 | 0.0063 | 50 | c.-32 others(69): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0100 | 1 | 109 | 0.0092 | 50 | c.-14 others(71): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132108862 | G | GTATATAA others(43): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03654.hp2 HG04228.hp2 |
a0004 | a0004c0007a0004c0045a0004c0046 | a0004c0007t0004a0004c0045t0001a0004c0046t0007 | a0004c0007t0004g0092 a0004c0045t0001g0090 a0004c0046t0007g0091 |
3 | 155 | 0.0194 | 50 | c.135 others(67): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132108879 | A | ACAAATGT others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(7): Show |
a0002a0003a0004 | a0002c0004a0002c0037a0003c0002others(1): Show | a0002c0004t0003a0002c0004t0004a0002c0037t0001others(2): Show | a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 others(7): Show |
10 | 94 | 0.1064 | 50 | c.135 others(67): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160445 | G | GGGGGCGC others(43): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18952.hp2 |
a0001a0003 | a0001c0034a0003c0003 | a0001c0034t0001a0003c0003t0001 | a0001c0034t0001g0021 a0003c0003t0001g0063 |
2 | 153 | 0.0131 | 50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160786 | G | GTGGGCCT others(43): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18952.hp2 |
a0001a0003 | a0001c0034a0003c0003 | a0001c0034t0001a0003c0003t0001 | a0001c0034t0001g0021 a0003c0003t0001g0063 |
2 | 152 | 0.0132 | 50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160788 | G | GGTCTCTT others(43): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01258.hp2 |
a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0009 a0002c0008t0003g0010 |
2 | 136 | 0.0147 | 50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161075 | G | GGGGGACC others(43): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0119 | 1 | 156 | 0.0064 | 50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161544 | G | GGGGGCCT others(43): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0031 | a0002c0031t0037 | a0002c0031t0037g0088 | 1 | 156 | 0.0064 | 50 | c.222 others(69): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(43): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0173 others(66): Show |
69 | 219 | 0.3151 | 50 | c.323 others(67): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 151 | 0.0066 | 50 | c.323 others(67): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGTG others(43): Show |
intron_variant | MODIFIER | HG02300.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 a0001c0002t0001g0169 |
2 | 152 | 0.0132 | 50 | c.323 others(67): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415625 | C | CGGCTGGC others(43): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0014 | a0001c0001t0002g0144 a0001c0001t0010g0114 a0001c0001t0010g0259 others(1): Show |
4 | 282 | 0.0142 | 50 | c.323 others(67): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63305457 | A | ACTCTCTC others(43): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0306 | 1 | 300 | 0.0033 | 50 | c.334 others(69): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63332127 | A | AAAACCAA others(43): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0262 | 1 | 308 | 0.0032 | 50 | c.333 others(69): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270498 | A | ATATATTT others(43): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18980.hp2 |
a0004 | a0004c0003 | a0004c0003t0003a0004c0003t0033 | a0004c0003t0003g0176 a0004c0003t0033g0148 |
2 | 308 | 0.0065 | 50 | c.103 others(69): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270523 | A | ATATATTT others(43): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 119 | 0.0084 | 50 | c.103 others(69): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126139 | A | AGAGAGAG others(43): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0131 | 1 | 258 | 0.0039 | 50 | c.117 others(69): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124110057 | T | TATATATG others(43): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0002 | a0001c0002t0002g0011 a0001c0007t0002g0018 |
2 | 112 | 0.0179 | 50 | c.73+ others(67): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110087 | T | TATATATG others(43): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03225.hp1 HG03471.hp2 |
a0001 | a0001c0003a0001c0023 | a0001c0003t0001a0001c0023t0007a0001c0023t0018 | a0001c0003t0001g0047 a0001c0023t0007g0046 a0001c0023t0018g0045 |
3 | 113 | 0.0265 | 50 | c.73+ others(67): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62278400 | T | TCTTTCTT others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0027others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0119 others(18): Show |
21 | 234 | 0.0897 | 50 | c.16+ others(65): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20062025 | C | CATAATAT others(43): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 197 | 0.0051 | 50 | c.304 others(69): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34181806 | A | ACACATAT others(43): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 235 | 0.0043 | 50 | c.-14 others(69): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883325 | A | AGAGAGAG others(43): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 146 | 0.0068 | 50 | c.227 others(69): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883340 | G | GAGAGAGA others(43): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 131 | 0.0076 | 50 | c.227 others(69): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72920453 | C | CTATATAT others(43): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 114 | 0.0088 | 50 | c.580 others(69): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72920453 | C | CTATATAT others(43): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 114 | 0.0088 | 50 | c.580 others(69): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210718367 | T | TATAAATA others(43): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01070.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0038 others(13): Show |
16 | 122 | 0.1311 | 50 | c.211 others(71): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806836 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 25 | 0.0400 | 50 | c.146 others(69): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02809.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0006a0001c0003t0046 | a0001c0001t0003g0149 a0001c0003t0006g0064 a0001c0003t0046g0065 |
3 | 156 | 0.0192 | 50 | c.137 others(69): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63024213 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 207 | 0.0048 | 50 | c.74- others(65): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234234 | C | CGTATATA others(43): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0039 | 1 | 66 | 0.0152 | 50 | c.62- others(69): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128858099 | A | AGATGGGG others(43): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 a0001c0001t0003g0163 |
2 | 300 | 0.0067 | 50 | c.-19 others(69): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37616587 | G | GTACATAT others(43): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0068 | 1 | 194 | 0.0052 | 50 | c.*85 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8571 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0117 | 1 | 21 | 0.0476 | 50 | c.*85 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0078 | a0001c0001t0051g0018 a0001c0001t0078g0076 |
2 | 22 | 0.0909 | 50 | c.*85 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | NA18939.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0082 | a0001c0001t0056g0133 a0001c0001t0082g0042 |
2 | 22 | 0.0909 | 50 | c.*85 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37717361 | T | TCTCACTG others(43): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0172 | a0001c0001t0172g0146 | 1 | 191 | 0.0052 | 50 | c.26- others(65): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88327126 | T | TCCACAAA others(43): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0311 | 1 | 332 | 0.0030 | 50 | c.-43 others(61): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 3858 | chr14 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215108988 | G | GTGAATGA others(43): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG01106.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(17): Show | a0001c0001t0001g0095 a0001c0001t0013g0152 a0001c0002t0002g0102 others(25): Show |
28 | 258 | 0.1085 | 50 | c.358 others(69): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757830 | C | CATCCAAG others(43): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 a0001c0001t0002g0092 |
2 | 192 | 0.0104 | 50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758397 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0031 |
2 | 174 | 0.0115 | 50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759442 | T | TATATATC others(43): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02129.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0148 a0001c0001t0003g0167 others(6): Show |
9 | 199 | 0.0452 | 50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178778458 | A | ACACACGC others(43): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 229 | 0.0044 | 50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178817218 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02572.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0022 a0001c0001t0002g0087 a0001c0001t0003g0172 |
3 | 154 | 0.0195 | 50 | c.57- others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01192.hp2 HG01515.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0020a0002c0002others(2): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
16 | 92 | 0.1739 | 50 | c.121 others(69): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 77 | 0.0130 | 50 | c.121 others(69): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTTTATAT others(43): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0195 | 1 | 77 | 0.0130 | 50 | c.121 others(69): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373657 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 233 | 0.0043 | 50 | c.121 others(69): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |