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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAZF1_chr7_27825577_28185795 | 28170335 | ATATGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0164 others(3): Show |
6 | 206 | 0.0291 | -20 | c.115 others(39): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28170337 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 206 | 0.0049 | -20 | c.115 others(39): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63263959 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 310 | 0.0032 | -20 | c.447 others(35): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63266369 | ACATAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01071.hp1 others(2): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0021t0001 | a0002c0002t0001g0269 a0002c0002t0001g0281 a0002c0002t0001g0283 others(2): Show |
5 | 310 | 0.0161 | -20 | c.334 others(37): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63284857 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(35): Show |
a0002a0003a0008others(2): Show | a0002c0002a0003c0003a0008c0009others(2): Show | a0002c0002t0001a0003c0003t0001a0008c0009t0001others(2): Show | a0002c0002t0001g0166 a0002c0002t0001g0212 a0002c0002t0001g0286 others(35): Show |
38 | 310 | 0.1226 | -20 | c.334 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63305629 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG03017.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0075 a0007c0006t0001g0112 a0007c0006t0001g0113 others(2): Show |
5 | 310 | 0.0161 | -20 | c.334 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG01952.hp2 others(10): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0050 others(10): Show |
13 | 310 | 0.0419 | -20 | c.333 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79318759 | TATAGAGA others(13): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02257.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0254 others(1): Show |
4 | 342 | 0.0117 | -20 | c.*3+ others(35): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79318784 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG02258.hp2 HG02896.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0011 | a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0320 others(3): Show |
6 | 342 | 0.0175 | -20 | c.*3+ others(35): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44114565 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0027 | 1 | 338 | 0.0030 | -20 | c.*14 others(35): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 5/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87620460 | GAGAGGGA others(13): Show |
G | intron_variant | MODIFIER | NA18943.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0349 a0001c0001t0014g0350 |
2 | 380 | 0.0053 | -20 | c.382 others(39): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87655337 | TTTATTTT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(219): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(63): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(218): Show |
222 | 380 | 0.5842 | -20 | c.116 others(41): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41762160 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 410 | 0.0024 | -20 | c.149 others(37): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 8/13 | chr17 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124078866 | ACAAGGGT others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0042 | a0001c0042t0003 | a0001c0042t0003g0108 | 1 | 116 | 0.0086 | -20 | c.73+ others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124170831 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02257.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0019a0001c0040a0001c0061others(1): Show | a0001c0019t0004a0001c0040t0032a0001c0061t0001others(1): Show | a0001c0019t0004g0104 a0001c0040t0032g0100 a0001c0061t0001g0098 others(1): Show |
4 | 116 | 0.0345 | -20 | c.74- others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02559.hp2 HG03139.hp2 |
a0001a0007 | a0001c0014a0001c0015a0007c0052 | a0001c0014t0007a0001c0015t0001a0007c0052t0008 | a0001c0014t0007g0116 a0001c0015t0001g0097 a0007c0052t0008g0075 |
3 | 116 | 0.0259 | -20 | c.74- others(33): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124287770 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0053 | a0002c0053t0004 | a0002c0053t0004g0094 | 1 | 116 | 0.0086 | -20 | c.970 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124549333 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG02165.hp1 HG02559.hp1 NA18612.hp2 |
a0001a0003a0005 | a0001c0004a0003c0028a0005c0077 | a0001c0004t0030a0003c0028t0001a0005c0077t0001 | a0001c0004t0030g0052 a0003c0028t0001g0033 a0005c0077t0001g0061 |
3 | 116 | 0.0259 | -20 | c.493 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 33/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124555414 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG01515.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0017a0001c0037 | a0001c0017t0005a0001c0037t0005 | a0001c0017t0005g0043 a0001c0037t0005g0059 |
2 | 116 | 0.0172 | -20 | c.493 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 33/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124668043 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0030 | 1 | 116 | 0.0086 | -20 | c.670 others(37): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 47/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124707394 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007a0001c0042others(4): Show | a0001c0001t0003a0001c0007t0002a0001c0007t0003others(5): Show | a0001c0001t0003g0010 a0001c0001t0003g0029 a0001c0001t0003g0112 others(8): Show |
11 | 116 | 0.0948 | -20 | c.807 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 57/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 697086 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 254 | 0.0039 | -20 | c.38- others(37): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK2_chr19_11159270_11202545 | 11195670 | AGTCTCTC others(13): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0008others(22): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(68): Show | a0001c0001t0002g0357 a0001c0001t0006g0136 a0001c0001t0017g0371 others(192): Show |
199 | 394 | 0.5051 | -20 | c.-14 others(29): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 2/13 | 1160 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8328387 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01074.hp2 others(45): Show |
a0003a0004a0006others(2): Show | a0003c0003a0004c0004a0004c0019others(3): Show | a0003c0003t0001a0004c0004t0002a0004c0019t0002others(3): Show | a0003c0003t0001g0318 a0004c0004t0002g0009 a0004c0004t0002g0010 others(43): Show |
48 | 406 | 0.1182 | -20 | c.193 others(39): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8345703 | GTGTGTGT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG03130.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0006 | a0001c0001t0001g0208 a0003c0003t0006g0329 a0003c0003t0006g0336 |
3 | 406 | 0.0074 | -20 | c.-25 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2442 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8345774 | GTCTTGCT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 | 1 | 406 | 0.0025 | -20 | c.-25 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2513 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346364 | AAAAAATA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045 | 1 | 406 | 0.0025 | -20 | c.-31 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3103 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346366 | AAAATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 406 | 0.0025 | -20 | c.-31 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3105 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346368 | AATATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18947.hp1 NA18990.hp2 NA18999.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 others(3): Show |
6 | 406 | 0.0148 | -20 | c.-31 others(31): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3107 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62293062 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0027others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0026 others(80): Show |
83 | 322 | 0.2578 | -20 | c.-70 others(39): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 | 1 | 284 | 0.0035 | -20 | c.175 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079612 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0243 | 1 | 284 | 0.0035 | -20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210079680 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0044 | 1 | 284 | 0.0035 | -20 | c.155 others(39): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210174915 | CCTATCCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(68): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0095 others(67): Show |
71 | 284 | 0.2500 | -20 | c.-38 others(31): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3507 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210174920 | CCTATTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 a0001c0001t0002g0101 |
2 | 284 | 0.0070 | -20 | c.-38 others(31): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3512 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052963 | CCAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(6): Show |
9 | 321 | 0.0280 | -20 | c.184 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(60): Show |
a0001a0005a0010 | a0001c0002a0001c0017a0005c0007others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0007others(9): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(60): Show |
63 | 321 | 0.1963 | -20 | c.184 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46058737 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 others(6): Show |
9 | 321 | 0.0280 | -20 | c.184 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46058741 | ACACTCTC others(13): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0269 | 1 | 321 | 0.0031 | -20 | c.184 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46058743 | ACTCTCTC others(13): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0210 a0001c0006t0004g0110 a0001c0006t0004g0111 others(1): Show |
4 | 321 | 0.0125 | -20 | c.184 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46083725 | GCTCCCCT others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 321 | 0.0685 | -20 | c.143 others(39): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46105886 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0080 | 1 | 321 | 0.0031 | -20 | c.129 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL2_chr12_48648211_48687238 | 48649853 | AAAAAAAA others(13): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 322 | 0.0031 | -20 | c.*41 others(31): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 3357 | chr12 | TogoVar | |||||||
KASH5_chr19_49383249_49422990 | 49411918 | GGGAAGGA others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02615.hp1 |
a0001a0002 | a0001c0005a0002c0004a0002c0009 | a0001c0005t0006a0002c0004t0001a0002c0009t0011 | a0001c0005t0006g0165 a0002c0004t0001g0053 a0002c0009t0011g0152 |
3 | 354 | 0.0085 | -20 | c.127 others(38): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49411955 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0311 a0002c0007t0005g0312 |
2 | 354 | 0.0057 | -20 | c.127 others(38): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20045317 | CTATTTAT others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02896.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0004g0311 a0001c0002t0001g0138 a0001c0002t0002g0312 others(6): Show |
9 | 374 | 0.0241 | -20 | c.303 others(37): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106961 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02735.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0004 a0001c0002t0003g0305 |
2 | 374 | 0.0054 | -20 | c.852 others(37): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106999 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 374 | 0.0027 | -20 | c.852 others(37): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054248 | AAAAAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp2 NA18522.hp2 NA18978.hp2 |
a0001a0003 | a0001c0003a0001c0012a0003c0006 | a0001c0003t0017a0001c0012t0045a0003c0006t0089 | a0001c0003t0017g0161 a0001c0012t0045g0191 a0003c0006t0089g0300 |
3 | 374 | 0.0080 | -20 | c.-26 others(31): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2262 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054250 | AAAAAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(23): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0017a0001c0003t0028others(7): Show | a0001c0003t0004g0180 a0001c0003t0004g0181 a0001c0003t0004g0185 others(23): Show |
26 | 374 | 0.0695 | -20 | c.-26 others(31): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2264 | chr8 | TogoVar |