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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAM3_chr11_134064072_134157001 | 134154547 | ACCCCTCC others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(226): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0004a0001c0001t0001g0302a0001c0001t0002g0001others(209): Show | 229 | 390 | 0.5872 | -24 | c.*53 others(35): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 2547 | chr11 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415517 | GCCGGGCA others(17): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 284 | 0.0035 | -24 | c.323 others(41): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 28170335 | ATATGTGT others(17): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0174 | 2 | 206 | 0.0097 | -24 | c.115 others(43): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28170337 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01975.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0076others(19): Show | 22 | 206 | 0.1068 | -24 | c.115 others(43): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28170371 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 206 | 0.0049 | -24 | c.115 others(43): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63305629 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0194 | 1 | 310 | 0.0032 | -24 | c.334 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63326381 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 310 | 0.0032 | -24 | c.333 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79318753 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG03098.hp2 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0156a0004c0003t0004g0157a0004c0003t0004g0158others(3): Show | 6 | 342 | 0.0175 | -24 | c.*3+ others(39): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79318755 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02071.hp1 HG02572.hp1 others(11): Show |
a0004 | a0004c0003 | a0004c0003t0004a0004c0003t0007a0004c0003t0010others(1): Show | a0004c0003t0004g0155a0004c0003t0004g0164a0004c0003t0004g0166others(11): Show | 14 | 342 | 0.0409 | -24 | c.*3+ others(39): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79318757 | TATATAGA others(17): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG02015.hp1 HG02080.hp2 others(19): Show |
a0004a0008 | a0004c0003a0008c0013 | a0004c0003t0004a0004c0003t0007a0004c0003t0010others(3): Show | a0004c0003t0004g0137a0004c0003t0004g0138a0004c0003t0004g0148others(19): Show | 22 | 342 | 0.0643 | -24 | c.*3+ others(39): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79318759 | TATAGAGA others(17): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG03041.hp2 |
a0004a0008 | a0004c0003a0008c0013 | a0004c0003t0004a0008c0013t0004 | a0004c0003t0004g0136a0008c0013t0004g0143 | 2 | 342 | 0.0059 | -24 | c.*3+ others(39): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79318780 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0007 | a0005c0007t0030 | a0005c0007t0030g0187 | 1 | 342 | 0.0029 | -24 | c.*3+ others(39): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JOSD1_chr22_38680543_38705943 | 38704278 | TTTTTTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA18747.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0047a0001c0001t0003g0133others(4): Show | 14 | 376 | 0.0372 | -24 | c.-41 others(35): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 3336 | chr22 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87639623 | GCCTCCCT others(17): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0269a0001c0023t0001g0270 | 2 | 380 | 0.0053 | -24 | c.383 others(41): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87698358 | AAGACTCC others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(100): Show |
a0001a0004a0008 | a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(39): Show | a0001c0003t0001g0052a0001c0003t0001g0091a0001c0003t0001g0095others(100): Show | 103 | 380 | 0.2711 | -24 | c.*16 others(35): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 203 | chr16 | TogoVar | ||||||
JRK_chr8_142652460_142674967 | 142669718 | CGGGTTCC others(17): Show |
C | intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0213 | 1 | 466 | 0.0022 | -24 | c.-46 others(41): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495965 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0074 | a0001c0074t0002 | a0001c0074t0002g0047 | 1 | 116 | 0.0086 | -24 | c.483 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124560721 | TGGTACAC others(17): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0007a0001c0019a0001c0046 | a0001c0007t0002a0001c0019t0004a0001c0046t0002 | a0001c0007t0002g0019a0001c0019t0004g0104a0001c0046t0002g0095 | 3 | 116 | 0.0259 | -24 | c.493 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 33/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124668043 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp2 HG02257.hp1 |
a0001a0008 | a0001c0047a0001c0067a0008c0048 | a0001c0047t0009a0001c0067t0016a0008c0048t0003 | a0001c0047t0009g0092a0001c0067t0016g0103a0008c0048t0003g0007 | 3 | 116 | 0.0259 | -24 | c.670 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 47/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK3_chr19_8317584_8348262 | 8328387 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 406 | 0.0025 | -24 | c.193 others(43): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8331365 | TCCCCTGT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(40): Show |
a0004a0005a0008others(2): Show | a0004c0033a0005c0005a0005c0014others(4): Show | a0004c0033t0004a0005c0005t0003a0005c0014t0003others(4): Show | a0004c0033t0004g0076a0005c0005t0003g0004a0005c0005t0003g0020others(39): Show | 43 | 406 | 0.1059 | -24 | c.193 others(43): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346360 | AAAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA19067.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0328 | 1 | 406 | 0.0025 | -24 | c.-31 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3099 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346362 | AAAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0334 | 1 | 406 | 0.0025 | -24 | c.-31 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3101 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346368 | AATATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0277 | 1 | 406 | 0.0025 | -24 | c.-31 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3107 | chr19 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62278320 | TCTTCCTT others(17): Show |
T | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0209 | 1 | 322 | 0.0031 | -24 | c.16+ others(39): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG01192.hp2 others(17): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0109a0001c0001t0001g0113others(17): Show | 20 | 284 | 0.0704 | -24 | c.175 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079642 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03834.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097a0001c0001t0006g0098 | 2 | 284 | 0.0070 | -24 | c.155 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079648 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0266 | 1 | 284 | 0.0035 | -24 | c.155 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079676 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0235 | 1 | 284 | 0.0035 | -24 | c.155 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210171295 | GGCCGCCG others(17): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01516.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004a0001c0001t0008g0005a0001c0001t0008g0006others(1): Show | 4 | 284 | 0.0141 | -24 | c.-20 others(33): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/15 | 16714 | chr2 | TogoVar | |||||
KANSL1_chr17_46024916_46198429 | 46056584 | CTGATAGA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058731 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0078 | 1 | 321 | 0.0031 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058733 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01255.hp1 NA19054.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0001a0001c0017t0001 | a0001c0002t0001g0052a0001c0017t0001g0015 | 2 | 321 | 0.0062 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058737 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0234a0001c0001t0011g0237 | 2 | 321 | 0.0062 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058739 | ACACACTC others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(1): Show | 4 | 321 | 0.0125 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058741 | ACACTCTC others(17): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01496.hp1 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0240a0002c0003t0003g0241a0002c0003t0003g0242others(10): Show | 13 | 321 | 0.0405 | -24 | c.184 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46105882 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01515.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0081a0004c0005t0001g0082a0004c0005t0001g0083others(1): Show | 4 | 321 | 0.0125 | -24 | c.129 others(45): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106961 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02523.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0102a0001c0002t0002g0032a0001c0002t0002g0033others(2): Show | 5 | 374 | 0.0134 | -24 | c.852 others(41): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106995 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0313 | 1 | 374 | 0.0027 | -24 | c.852 others(41): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20121730 | ATATGTGT others(17): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0304a0001c0002t0001g0020a0001c0002t0001g0021 | 3 | 374 | 0.0080 | -24 | c.127 others(41): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KATNA1_chr6_149589873_149653714 | 149613179 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 296 | 0.0034 | -24 | c.502 others(41): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34181582 | ACATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0030others(171): Show | 174 | 344 | 0.5058 | -24 | c.-14 others(43): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34199962 | TTTTACAG others(17): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 344 | 0.0029 | -24 | c.-15 others(41): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27655177 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp2 HG03130.hp2 others(7): Show |
a0001a0002a0010 | a0001c0004a0001c0024a0002c0002others(1): Show | a0001c0004t0001a0001c0024t0001a0002c0002t0003others(1): Show | a0001c0004t0001g0116a0001c0004t0001g0117a0001c0004t0001g0118others(7): Show | 10 | 152 | 0.0658 | -24 | c.540 others(41): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27661999 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0137 | 1 | 152 | 0.0066 | -24 | c.540 others(43): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14681645 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 146 | 0.0069 | -24 | c.226 others(43): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14727450 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02572.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0004g0064a0001c0001t0008g0030a0001c0001t0009g0033others(1): Show | 4 | 146 | 0.0274 | -24 | c.226 others(45): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14906174 | TATTATAA others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0052a0001c0001t0001g0067others(49): Show | 52 | 146 | 0.3562 | -24 | c.227 others(43): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918699 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0037 | 1 | 146 | 0.0069 | -24 | c.227 others(43): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918703 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0033 | 1 | 146 | 0.0069 | -24 | c.227 others(43): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |