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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(83): Show |
a0001a0002a0004others(40): Show | a0001c0004a0001c0005a0001c0009others(57): Show | a0001c0004t0002a0001c0004t0004a0001c0005t0001others(61): Show | a0001c0004t0002g0071 a0001c0004t0002g0131 a0001c0004t0004g0104 others(83): Show |
86 | 127 | 0.6772 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0062 | 1 | 42 | 0.0238 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02523.hp1 NA19043.hp1 |
a0006a0067 | a0006c0010a0067c0028 | a0006c0010t0004a0067c0028t0002 | a0006c0010t0004g0079 a0006c0010t0004g0080 a0067c0028t0002g0023 |
3 | 44 | 0.0682 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0033 | a0033c0097 | a0033c0097t0005 | a0033c0097t0005g0147 | 1 | 42 | 0.0238 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0016a0019a0071 | a0016c0014a0019c0031a0019c0032others(1): Show | a0016c0014t0001a0019c0031t0004a0019c0032t0001others(1): Show | a0016c0014t0001g0098 a0016c0014t0001g0099 a0019c0031t0004g0102 others(2): Show |
5 | 46 | 0.1087 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038286 | G | GGGCCGGG others(382): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03041.hp2 |
a0010a0039 | a0010c0006a0039c0075 | a0010c0006t0006a0039c0075t0001 | a0010c0006t0006g0037 a0010c0006t0006g0039 a0039c0075t0001g0130 |
3 | 44 | 0.0682 | 389 | c.722 others(408): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(382): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01255.hp2 HG01258.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0001g0200 a0001c0001t0007g0232 a0001c0001t0009g0225 others(15): Show |
18 | 125 | 0.1440 | 389 | c.-18 others(408): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(382): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0228 | 1 | 108 | 0.0093 | 389 | c.-18 others(408): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCATCACC others(382): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 165 | 0.0061 | 389 | c.186 others(406): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273020 | C | CACAACCG others(382): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 1 | 372 | 0.0027 | 389 | c.228 others(406): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377502 | C | CCCACCCA others(382): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 318 | 0.0031 | 389 | c.-15 others(400): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCC others(382): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 46 | 0.0217 | 389 | c.-25 others(408): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCC others(382): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 46 | 0.0217 | 389 | c.-25 others(408): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3694551 | C | CTCAGCCC others(382): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0122 | 1 | 354 | 0.0028 | 389 | c.186 others(408): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3694551 | C | CTCAGCCC others(382): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0196 | 1 | 354 | 0.0028 | 389 | c.186 others(408): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1480810 | C | CGTCCACA others(382): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0017 | 1 | 112 | 0.0089 | 389 | c.133 others(408): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1537470 | T | TCAAATCC others(382): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01978.hp2 others(7): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0009a0002c0002t0014a0003c0003t0005others(6): Show | a0002c0002t0009g0062 a0002c0002t0014g0008 a0003c0003t0005g0082 others(7): Show |
10 | 107 | 0.0935 | 389 | c.261 others(408): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRIM49D2_chr11_89919064_89938063 | 89935248 | A | ATATTTGT others(382): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 HG03540.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0031 | 2 | 167 | 0.0120 | 389 | c.*23 others(400): Show |
TRIM49D2 | ENSG00000233802.8 | transcript | ENST00000623787.3 | protein_coding | 2186 | chr11 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCCACAC others(382): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 204 | 0.0049 | 389 | c.225 others(408): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530556 | A | ATATTATA others(382): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 11 | 0.0909 | 389 | c.392 others(406): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ZBTB43_chr9_126800040_126843210 | 126814265 | G | GATTTTTA others(382): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0351 | 1 | 78 | 0.0128 | 389 | c.-24 others(406): Show |
ZBTB43 | ENSG00000169155.10 | transcript | ENST00000373464.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 754329 | G | GGGAAACA others(382): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03139.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0003a0001c0033 | a0001c0003t0003a0001c0003t0010a0001c0033t0050 | a0001c0003t0003g0153 a0001c0003t0010g0256 a0001c0003t0010g0262 others(1): Show |
4 | 153 | 0.0261 | 389 | c.503 others(404): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2336775 | G | GTGAGGAG others(382): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 211 | 0.0047 | 389 | c.611 others(404): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2336775 | G | GTGAGGAG others(382): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(71): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0028 others(71): Show |
74 | 284 | 0.2606 | 389 | c.611 others(404): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(382): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 166 | 0.0060 | 389 | c.-36 others(400): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370846 | T | TATCATAT others(382): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0020 | 1 | 225 | 0.0044 | 389 | c.-36 others(400): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3522 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(382): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 223 | 0.0045 | 389 | c.-34 others(400): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(382): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 223 | 0.0045 | 389 | c.-34 others(400): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975400 | T | TATAAATA others(383): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0180 | 1 | 293 | 0.0034 | 390 | c.130 others(409): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975400 | T | TATAAATA others(383): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0176 | 1 | 293 | 0.0034 | 390 | c.130 others(409): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(383): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0069 | 1 | 236 | 0.0042 | 390 | c.523 others(409): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(383): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0085 | 1 | 236 | 0.0042 | 390 | c.523 others(409): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(383): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0001 | a0002c0001t0036 | a0002c0001t0036g0003 | 1 | 25 | 0.0400 | 390 | c.259 others(411): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1577311 | C | CCCAGTGT others(383): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0019 | a0001c0001t0012g0024 a0001c0001t0019g0038 |
2 | 90 | 0.0222 | 390 | c.100 others(411): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1577311 | C | CCCGGTGT others(383): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 89 | 0.0112 | 390 | c.100 others(411): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1577311 | C | CCCGGTGT others(383): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01934.hp2 HG02027.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0010a0001c0001t0035a0001c0001t0049others(8): Show | a0001c0001t0010g0013 a0001c0001t0035g0079 a0001c0001t0049g0040 others(8): Show |
11 | 99 | 0.1111 | 390 | c.100 others(411): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1577311 | C | CCCGGTGT others(383): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0006 | a0003c0006t0067 | a0003c0006t0067g0080 | 1 | 89 | 0.0112 | 390 | c.100 others(411): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1577360 | G | GAGGTGGA others(383): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0009 | a0009c0015 | a0009c0015t0014 | a0009c0015t0014g0008 | 1 | 87 | 0.0115 | 390 | c.100 others(411): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(383): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 123 | 0.0081 | 390 | c.-1- others(405): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(383): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 123 | 0.0081 | 390 | c.-1- others(405): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(383): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 123 | 0.0081 | 390 | c.-1- others(405): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(383): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01928.hp2 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0183 a0001c0001t0002g0196 a0001c0001t0003g0199 others(3): Show |
6 | 97 | 0.0619 | 390 | c.-37 others(401): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | |||||||
ANKRD29_chr18_23593926_23667911 | 23615974 | C | CTATGTAT others(383): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0020 | 1 | 179 | 0.0056 | 390 | c.723 others(407): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128633 | C | CGCTCCGA others(383): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 261 | 0.0038 | 390 | c.806 others(405): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(383): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 99 | 0.0101 | 390 | c.*67 others(401): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687013 | C | CCCCGTGA others(383): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 235 | 0.0043 | 390 | c.-14 others(401): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1168 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687013 | C | CCCCGTGA others(383): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 235 | 0.0043 | 390 | c.-14 others(401): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1168 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGCGAGCA others(383): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0246 | 1 | 146 | 0.0068 | 390 | c.-18 others(401): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(383): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 a0001c0002t0001g0160 |
2 | 147 | 0.0136 | 390 | c.-18 others(401): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79357958 | T | TCTGGGTC others(383): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 255 | 0.0039 | 390 | c.290 others(409): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |