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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(910): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01981.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 a0001c0002t0002g0113 a0001c0002t0002g0116 others(1): Show |
4 | 130 | 0.0308 | 917 | c.101 others(936): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(910): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0063 | a0063c0056 | a0063c0056t0001 | a0063c0056t0001g0073 | 1 | 127 | 0.0079 | 917 | c.101 others(936): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716318 | T | TGGGGGAG others(910): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121 | 1 | 163 | 0.0061 | 917 | c.86- others(930): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(910): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 212 | 0.0047 | 917 | c.417 others(934): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(910): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 132 | 0.0076 | 917 | c.94- others(930): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(910): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0167 | 1 | 132 | 0.0076 | 917 | c.94- others(930): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(910): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 133 | 0.0150 | 917 | c.94- others(930): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(910): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 132 | 0.0076 | 917 | c.94- others(930): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859176 | G | GAGTGGTG others(910): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0115 | 1 | 286 | 0.0035 | 917 | c.153 others(936): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(910): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 242 | 0.0041 | 917 | c.129 others(936): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(910): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 125 | 0.0080 | 917 | c.-49 others(928): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(910): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 8 | 0.1250 | 917 | c.250 others(932): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(910): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0256 | 1 | 210 | 0.0048 | 917 | c.-5+ others(932): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(910): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 242 | 0.0041 | 917 | c.-5+ others(932): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(910): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0213 | 1 | 139 | 0.0072 | 917 | c.141 others(934): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(910): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 |
3 | 4 | 0.7500 | 917 | c.734 others(934): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(910): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01952.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0004a0002c0004t0037 | a0002c0004t0004g0066 a0002c0004t0004g0072 a0002c0004t0004g0082 others(2): Show |
5 | 214 | 0.0234 | 917 | c.227 others(934): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(910): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0317 | 1 | 210 | 0.0048 | 917 | c.227 others(934): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(910): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0106 | 1 | 19 | 0.0526 | 917 | c.24+ others(934): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8502129 | T | TGCCCGGC others(910): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 5 | 0.2000 | 917 | c.880 others(934): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(910): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 306 | 0.0033 | 917 | c.45- others(932): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(910): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0069 | a0001c0069t0001 | a0001c0069t0001g0041 | 1 | 120 | 0.0083 | 917 | c.120 others(936): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(910): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 a0001c0001t0005g0334 |
2 | 376 | 0.0053 | 917 | c.-35 others(934): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(910): Show |
intron_variant | MODIFIER | HG03927.hp2 HG04184.hp1 NA18965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0018 a0001c0001t0005g0288 a0001c0001t0005g0327 others(3): Show |
7 | 381 | 0.0184 | 917 | c.-35 others(934): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(910): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0012 | a0001c0001t0004g0019 a0001c0003t0012g0144 |
2 | 29 | 0.0690 | 917 | c.113 others(936): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(910): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0162 a0001c0001t0002g0193 others(5): Show |
8 | 35 | 0.2286 | 917 | c.113 others(936): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(910): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 28 | 0.0357 | 917 | c.113 others(936): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(910): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0125 a0001c0001t0002g0131 |
2 | 29 | 0.0690 | 917 | c.113 others(936): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312448 | C | CTCATCAT others(910): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 215 | 0.0047 | 917 | c.327 others(934): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507099 | G | GTGTATAT others(910): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 372 | 0.0027 | 917 | c.-23 others(934): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(910): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18957.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0005 a0001c0002t0005g0017 |
2 | 99 | 0.0202 | 917 | c.41- others(934): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370313 | G | GTGTATGT others(910): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0166 | 1 | 392 | 0.0026 | 917 | c.-6- others(932): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169105 | C | CCTCCCTC others(910): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 79 | 0.0127 | 917 | c.*92 others(926): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 838 | chrX | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(911): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 23 | 0.0435 | 918 | c.116 others(935): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(911): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 a0001c0003t0001g0025 a0001c0003t0001g0026 others(5): Show |
12 | 34 | 0.3529 | 918 | c.116 others(935): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(911): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02080.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 a0002c0002t0001g0090 a0002c0002t0001g0110 |
6 | 28 | 0.2143 | 918 | c.116 others(935): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(911): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 23 | 0.0435 | 918 | c.116 others(935): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(911): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18983.hp2 NA18997.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0113 a0004c0005t0001g0116 a0004c0005t0001g0118 others(1): Show |
4 | 26 | 0.1538 | 918 | c.116 others(935): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(911): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 7 | 0.1429 | 918 | c.775 others(933): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(911): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0106a0002c0002t0019others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0032 others(8): Show |
11 | 17 | 0.6471 | 918 | c.775 others(933): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(911): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 130 | 0.0077 | 918 | c.441 others(935): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431630 | T | TGGGGGCT others(911): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 284 | 0.0035 | 918 | c.539 others(931): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349903 | C | CAGGGGAA others(911): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 268 | 0.0037 | 918 | c.838 others(933): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687405 | A | ACCCCGTG others(911): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 211 | 0.0047 | 918 | c.-18 others(929): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1560 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(911): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 233 | 0.0043 | 918 | c.-18 others(929): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105240774 | G | GCAGCCCC others(911): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 64 | 0.0156 | 918 | c.694 others(933): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(911): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0255 a0001c0002t0002g0256 |
2 | 214 | 0.0093 | 918 | c.-13 others(937): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2520147 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0046 | 1 | 101 | 0.0099 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0001c0015a0003c0027 | a0001c0001t0004a0001c0015t0034a0003c0027t0011 | a0001c0001t0004g0042 a0001c0015t0034g0056 a0003c0027t0011g0012 |
3 | 32 | 0.0938 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0001c0008a0003c0016 | a0001c0001t0015a0001c0008t0033a0003c0016t0011 | a0001c0001t0015g0035 a0001c0008t0033g0080 a0003c0016t0011g0082 |
3 | 32 | 0.0938 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |