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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLF12_chr13_73681089_74139404 | 74039069 | T | TTTTAAAT others(6065): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 120 | 0.0083 | 6072 | c.-31 others(6091): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCAC others(6065): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0218 | 1 | 290 | 0.0035 | 6072 | c.129 others(6089): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6065): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0254 | 1 | 300 | 0.0033 | 6072 | c.63+ others(6087): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72846638 | T | TTGTATTT others(6065): Show |
intron_variant | MODIFIER | HG00408.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 a0001c0001t0002g0238 |
2 | 348 | 0.0058 | 6072 | c.469 others(6091): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 4/10 | chr18 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 132812407 | C | CAAAGAAA others(6065): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056 | 1 | 68 | 0.0147 | 6072 | c.146 others(6093): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
USP53_chr4_119207713_119300518 | 119210413 | A | AGTCAAAT others(6065): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 380 | 0.0026 | 6072 | c.-34 others(6083): Show |
USP53 | ENSG00000145390.12 | transcript | ENST00000692078.1 | protein_coding | 2299 | chr4 | TogoVar | |||||||
WDR11_chr10_120846362_120914524 | 120902665 | T | TAAAAAAG others(6065): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03225.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0252 a0001c0005t0005g0253 |
2 | 386 | 0.0052 | 6072 | c.275 others(6089): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR11_chr10_120846362_120914524 | 120902665 | T | TAAAAAAG others(6065): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0257 | 1 | 386 | 0.0026 | 6072 | c.275 others(6089): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6066): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02293.hp2 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0113 others(3): Show |
6 | 146 | 0.0411 | 6073 | c.62- others(6092): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6066): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0056 | 1 | 146 | 0.0069 | 6073 | c.62- others(6092): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6066): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 74 | 0.0135 | 6073 | c.256 others(6094): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6066): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0031 | 1 | 74 | 0.0135 | 6073 | c.256 others(6094): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
GPR12_chr13_26750200_26765786 | 26764885 | T | TAAACATT others(6066): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0030 | 1 | 382 | 0.0026 | 6073 | c.-43 others(6084): Show |
GPR12 | ENSG00000132975.8 | transcript | ENST00000405846.5 | protein_coding | 4100 | chr13 | TogoVar | |||||||
KLF12_chr13_73681089_74139404 | 74039069 | T | TTTTAAAT others(6066): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 1 | 120 | 0.0083 | 6073 | c.-31 others(6092): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 141079092 | T | TAAACCCA others(6066): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0021 | 1 | 28 | 0.0357 | 6073 | c.101 others(6094): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 7/90 | chr2 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6066): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19058.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0175 a0001c0002t0008g0118 |
2 | 374 | 0.0054 | 6073 | c.283 others(6090): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6066): Show |
intron_variant | MODIFIER | HG02895.hp1 NA20129.hp2 |
a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0201 a0001c0012t0010g0203 |
2 | 280 | 0.0071 | 6073 | c.649 others(6090): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MINDY4_chr7_30766417_30897387 | 30774576 | T | TTCTCGAA others(6066): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0255 | 1 | 300 | 0.0033 | 6073 | c.63+ others(6088): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 48972802 | T | TAAAAAAT others(6067): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0015 | 1 | 104 | 0.0096 | 6074 | c.594 others(6093): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6067): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0043 | 1 | 146 | 0.0069 | 6074 | c.62- others(6093): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61397380 | T | TGAAACTT others(6067): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0058 | 1 | 106 | 0.0094 | 6074 | c.169 others(6095): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136999921 | T | TGAAAATT others(6067): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0218 | 1 | 320 | 0.0031 | 6074 | c.-47 others(6091): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36392558 | T | TAAAACAT others(6067): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0046 | 1 | 324 | 0.0031 | 6074 | c.332 others(6091): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67189554 | C | CAAAACAT others(6067): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0002 | 1 | 46 | 0.0217 | 6074 | c.844 others(6091): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 6/17 | chr10 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948209 | G | GTGGTGGT others(6067): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 136 | 0.0074 | 6074 | c.47- others(6091): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6067): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 74 | 0.0135 | 6074 | c.256 others(6095): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6067): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18941.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 a0002c0002t0002g0145 a0002c0002t0002g0153 |
3 | 340 | 0.0088 | 6074 | c.140 others(6093): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6067): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18941.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 a0001c0002t0001g0082 |
2 | 374 | 0.0054 | 6074 | c.283 others(6091): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6067): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0039 | 1 | 280 | 0.0036 | 6074 | c.649 others(6091): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6067): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0009a0001c0013a0001c0017 | a0001c0009t0010a0001c0013t0010a0001c0013t0024others(1): Show | a0001c0009t0010g0238 a0001c0013t0010g0079 a0001c0013t0024g0004 others(1): Show |
4 | 280 | 0.0143 | 6074 | c.649 others(6091): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6067): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0263 | 1 | 280 | 0.0036 | 6074 | c.649 others(6091): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6067): Show |
intron_variant | MODIFIER | HG01192.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0086 a0001c0001t0013g0173 |
2 | 224 | 0.0089 | 6074 | c.619 others(6091): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6067): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 224 | 0.0045 | 6074 | c.619 others(6091): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6067): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 224 | 0.0045 | 6074 | c.619 others(6091): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6068): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 168 | 0.0060 | 6075 | c.124 others(6094): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6068): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 168 | 0.0060 | 6075 | c.124 others(6094): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180071628 | C | CAAAAATT others(6068): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0023 | a0023c0029 | a0023c0029t0010 | a0023c0029t0010g0012 | 1 | 248 | 0.0040 | 6075 | c.556 others(6094): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136999921 | T | TGAAAATT others(6068): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0009 | a0004c0009t0028 | a0004c0009t0028g0303 | 1 | 320 | 0.0031 | 6075 | c.-47 others(6092): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10631054 | A | ACGGAATC others(6068): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01515.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0008a0003c0003t0017others(1): Show | a0003c0003t0007g0111 a0003c0003t0007g0117 a0003c0003t0008g0115 others(4): Show |
7 | 320 | 0.0219 | 6075 | c.12- others(6092): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10631054 | A | ACGGAATC others(6068): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0297 | 1 | 320 | 0.0031 | 6075 | c.12- others(6092): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67189554 | C | CAAAACAT others(6068): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0039 | 1 | 46 | 0.0217 | 6075 | c.844 others(6092): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 6/17 | chr10 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6068): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 74 | 0.0135 | 6075 | c.256 others(6096): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6068): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | 74 | 0.0270 | 6075 | c.256 others(6096): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6068): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121 | 1 | 340 | 0.0029 | 6075 | c.140 others(6094): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6068): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18947.hp2 NA18953.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 others(7): Show |
10 | 340 | 0.0294 | 6075 | c.140 others(6094): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6068): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0262 | 1 | 340 | 0.0029 | 6075 | c.140 others(6094): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6068): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19091.hp1 |
a0002 | a0002c0002a0002c0025 | a0002c0002t0002a0002c0025t0002 | a0002c0002t0002g0111 a0002c0025t0002g0112 |
2 | 340 | 0.0059 | 6075 | c.140 others(6094): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6068): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(27): Show |
a0002a0011a0012others(1): Show | a0002c0002a0002c0008a0002c0019others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0008t0003others(4): Show | a0002c0002t0002g0122 a0002c0002t0002g0125 a0002c0002t0002g0126 others(27): Show |
30 | 340 | 0.0882 | 6075 | c.140 others(6094): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6068): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0080 | 1 | 374 | 0.0027 | 6075 | c.283 others(6092): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6068): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0121 | 1 | 280 | 0.0036 | 6075 | c.649 others(6092): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |