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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1044): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0014 | a0005c0014t0035 | a0005c0014t0035g0148 | 1 | 6 | 0.1667 | 1051 | c.100 others(1070): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3680089 | A | ACGTCCTC others(1044): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0262 | 1 | 360 | 0.0028 | 1051 | c.106 others(1068): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1044): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0278 | 1 | 136 | 0.0074 | 1051 | c.127 others(1068): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1044): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0015a0001c0001t0035a0001c0001t0049others(2): Show | a0001c0001t0015g0092 a0001c0001t0015g0094 a0001c0001t0015g0096 others(4): Show |
7 | 142 | 0.0493 | 1051 | c.127 others(1068): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1044): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp1 |
a0011 | a0011c0025a0011c0035 | a0011c0025t0001a0011c0035t0001 | a0011c0025t0001g0050 a0011c0025t0001g0051 a0011c0035t0001g0181 |
3 | 224 | 0.0134 | 1051 | c.*23 others(1062): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1044): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0256 | 1 | 34 | 0.0294 | 1051 | c.299 others(1066): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(1044): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0196 | 1 | 16 | 0.0625 | 1051 | c.188 others(1070): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 28 | 0.0357 | 1051 | c.113 others(1070): 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(1044): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 28 | 0.0357 | 1051 | c.113 others(1070): 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(1044): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 28 | 0.0357 | 1051 | c.113 others(1070): 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(1044): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 28 | 0.0357 | 1051 | c.113 others(1070): 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(1044): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 28 | 0.0357 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607701 | G | GACAGACC others(1044): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 178 | 0.0056 | 1051 | c.323 others(1070): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1044): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0167 | 1 | 149 | 0.0067 | 1051 | c.129 others(1068): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1044): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 149 | 0.0067 | 1051 | c.129 others(1068): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1044): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 119 | 0.0084 | 1051 | c.*51 others(1062): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1044): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 21 | 0.0476 | 1051 | c.127 others(1068): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1044): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 100 | 0.0100 | 1051 | c.-10 others(1068): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF236_chr18_76817557_76977901 | 76967266 | T | TATTTGGT others(1044): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(24): Show |
a0001a0002a0008 | a0001c0032a0002c0004a0008c0047 | a0001c0032t0004a0002c0004t0004a0008c0047t0004 | a0001c0032t0004g0213 a0002c0004t0004g0120 a0002c0004t0004g0151 others(24): Show |
27 | 169 | 0.1598 | 1051 | c.542 others(1068): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1045): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 204 | 0.0049 | 1052 | c.106 others(1071): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 3 | 0.3333 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 3 | 0.3333 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19000.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0210 |
3 | 5 | 0.6000 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0124 a0002c0002t0002g0032 a0002c0002t0003g0033 |
3 | 5 | 0.6000 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01169.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0126 others(23): Show |
26 | 28 | 0.9286 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18942.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 others(2): Show |
5 | 7 | 0.7143 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406199 | T | TTGTCACT others(1045): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0002 | 1 | 206 | 0.0049 | 1052 | c.*28 others(1063): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 522 | chr2 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1045): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 299 | 0.0033 | 1052 | c.*36 others(1063): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1045): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18983.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 a0001c0001t0004g0095 a0001c0001t0004g0096 |
4 | 154 | 0.0260 | 1052 | c.63+ others(1065): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(1045): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 302 | 0.0033 | 1052 | c.891 others(1069): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TACACATA others(1045): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 103 | 0.0194 | 1052 | c.*19 others(1063): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TACACATA others(1045): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 119 | 0.0168 | 1052 | c.*19 others(1063): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725406 | A | AGAGGGAG others(1045): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0183 | 1 | 306 | 0.0033 | 1052 | c.340 others(1069): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1045): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0017 | a0017c0166 | a0017c0166t0001 | a0017c0166t0001g0052 | 1 | 98 | 0.0102 | 1052 | c.118 others(1071): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1045): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0134 | a0003c0134t0001 | a0003c0134t0001g0217 | 1 | 68 | 0.0147 | 1052 | c.323 others(1071): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1045): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18612.hp1 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0016 | a0003c0001t0001g0158 a0003c0001t0016g0157 |
2 | 69 | 0.0290 | 1052 | c.323 others(1071): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1045): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0076 | 1 | 143 | 0.0070 | 1052 | c.488 others(1067): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1045): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0082 | 1 | 143 | 0.0070 | 1052 | c.488 others(1067): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406199 | T | TTGTCACT others(1045): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 271 | 0.0037 | 1052 | c.*63 others(1061): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 634 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(1045): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0126 | 1 | 215 | 0.0047 | 1052 | c.129 others(1069): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184620 | A | ACCCAGTG others(1045): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01978.hp1 others(16): Show |
a0001a0011 | a0001c0001a0001c0005a0011c0017 | a0001c0001t0001a0001c0005t0001a0001c0005t0010others(2): Show | a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0005t0001g0004 others(12): Show |
19 | 345 | 0.0551 | 1052 | c.*64 others(1063): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3825 | chr21 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 112972798 | T | TGGATGGA others(1045): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0016 | 1 | 48 | 0.0208 | 1052 | c.79+ others(1067): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82196 | C | CGCGCTGA others(1045): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 404 | 0.0025 | 1052 | c.301 others(1067): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2035081 | A | AATCTCCA others(1045): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0010 a0001c0007t0003g0003 |
2 | 101 | 0.0198 | 1052 | c.-15 others(1073): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949356 | T | TGCCTCCT others(1045): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 203 | 0.0049 | 1052 | c.360 others(1071): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1045): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 | 1 | 67 | 0.0149 | 1052 | c.306 others(1071): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098628 | T | TTCTAACC others(1045): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 57 | 0.0175 | 1052 | c.125 others(1069): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1045): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0154 | 1 | 143 | 0.0070 | 1052 | c.176 others(1069): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325270 | G | GGGGGGCG others(1045): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 134 | 0.0075 | 1052 | c.531 others(1069): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46184620 | A | ACCCAGTG others(1045): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01978.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0022a0002c0002t0023 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0046 others(10): Show |
19 | 242 | 0.0785 | 1052 | c.-12 others(1063): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 162 | chr21 | TogoVar |