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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK5_chr20_9532370_9844076 | 9766474 | TGTATATA others(41): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03209.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0006t0002g0028 |
3 | 206 | 0.0146 | -48 | c.-16 others(69): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALM_chr19_703935_753329 | 735205 | GTGTCCTG others(41): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0379 | 1 | 402 | 0.0025 | -48 | c.443 others(63): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | chr19 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166553 | CCAATCCC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047 a0001c0001t0002g0001 a0001c0001t0002g0091 |
3 | 435 | 0.0069 | -48 | c.-41 others(59): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4177 | chr22 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116405025 | GATCATAG others(41): Show |
G | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 232 | 0.0043 | -48 | c.*84 others(59): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 2705 | chr9 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69355296 | CTTTCTTT others(41): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0271 others(5): Show |
8 | 282 | 0.0284 | -48 | c.-11 others(67): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR6_chr1_156238320_156253056 | 156249901 | AAGCTAGA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -48 | c.-20 others(59): Show |
PAQR6 | ENSG00000160781.17 | transcript | ENST00000292291.10 | protein_coding | 1846 | chr1 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035999 | GAGAAGGA others(41): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0012a0001c0003t0003 | a0001c0002t0012g0247 a0001c0003t0003g0031 a0001c0003t0003g0189 others(2): Show |
6 | 356 | 0.0169 | -48 | c.132 others(67): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARP6_chr15_72236181_72277554 | 72275712 | ACTTTCTT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 394 | 0.0025 | -48 | c.-38 others(59): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 3159 | chr15 | TogoVar | |||||||
PARP6_chr15_72236181_72277554 | 72275860 | AGTGTCAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02970.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show |
4 | 13 | 0.3077 | -48 | c.-39 others(59): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 3307 | chr15 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44056921 | CGAGCTGG others(41): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0315 others(21): Show |
24 | 46 | 0.5217 | -48 | c.112 others(67): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44127742 | ATTGCCCA others(41): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0028 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0002g0206 a0001c0001t0004g0187 a0001c0001t0008g0193 others(11): Show |
14 | 170 | 0.0824 | -48 | c.377 others(65): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672318 | ATATATAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0162 | 1 | 274 | 0.0036 | -48 | c.-34 others(59): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3282 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613943 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 224 | 0.0045 | -48 | c.649 others(63): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613947 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 250 | 0.0040 | -48 | c.649 others(63): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613951 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0166 | 1 | 238 | 0.0042 | -48 | c.649 others(63): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(41): Show |
T | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 337 | 0.0030 | -48 | c.-23 others(57): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771901 | AGAGAGAG others(41): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0026 others(1): Show |
6 | 358 | 0.0168 | -48 | c.-28 others(57): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 147 | chr21 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125779893 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 292 | 0.0034 | -48 | c.274 others(67): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45918448 | AGGAAGAA others(41): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 143 | 0.0070 | -48 | c.717 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45918569 | GGTCGGTG others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0175 a0001c0001t0001g0287 a0001c0001t0002g0035 others(113): Show |
117 | 266 | 0.4399 | -48 | c.717 others(65): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264086 | CGGTATCT others(41): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02300.hp2 NA18956.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 others(1): Show |
4 | 172 | 0.0233 | -48 | c.819 others(65): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264110 | CGGTATCT others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02735.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0110 others(5): Show |
8 | 162 | 0.0494 | -48 | c.819 others(65): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264172 | CGTATATA others(41): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0086 others(4): Show |
7 | 171 | 0.0409 | -48 | c.819 others(65): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | chr13 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92484169 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0002t0008others(1): Show | a0001c0001t0002g0072 a0001c0001t0006g0021 a0001c0002t0008g0008 others(1): Show |
4 | 153 | 0.0261 | -48 | c.336 others(69): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307056 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0009 | a0001c0001t0020g0094 a0002c0002t0009g0023 |
2 | 100 | 0.0200 | -48 | c.876 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307056 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03098.hp1 |
a0001a0002 | a0001c0007a0002c0028 | a0001c0007t0001a0002c0028t0001 | a0001c0007t0001g0086 a0002c0028t0001g0022 |
2 | 92 | 0.0217 | -48 | c.876 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDHA10_chr5_140850897_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 258 | 0.0039 | -48 | c.238 others(69): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA11_chr5_140863957_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 258 | 0.0039 | -48 | c.239 others(69): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA12_chr5_140870308_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 258 | 0.0039 | -48 | c.236 others(69): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA13_chr5_140877124_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0182 | 1 | 258 | 0.0039 | -48 | c.239 others(69): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 198 | 0.0051 | -48 | c.239 others(69): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 200 | 0.0050 | -48 | c.238 others(69): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0145 | 1 | 206 | 0.0049 | -48 | c.239 others(69): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 210 | 0.0048 | -48 | c.238 others(69): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 1 | 218 | 0.0046 | -48 | c.235 others(69): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 234 | 0.0043 | -48 | c.239 others(69): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 246 | 0.0041 | -48 | c.235 others(69): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 256 | 0.0039 | -48 | c.239 others(69): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0024 | a0024c0025 | a0024c0025t0001 | a0024c0025t0001g0024 | 1 | 254 | 0.0039 | -48 | c.239 others(69): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140926155 | TGCAGCAG others(41): Show |
T | upstream_gene_variant | MODIFIER | HG03710.hp2 HG03942.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0085 a0002c0001t0001g0086 |
2 | 278 | 0.0072 | -48 | c.-73 others(57): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 143 | chr5 | TogoVar | |||||||
PCDHGA1_chr5_141325514_141517975 | 141347101 | CTCTCTCT others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0238 | 1 | 266 | 0.0038 | -48 | c.242 others(69): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141347101 | CTCTCTCT others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 270 | 0.0037 | -48 | c.242 others(67): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141347101 | CTCTCTCT others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0269 | 1 | 268 | 0.0037 | -48 | c.242 others(65): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141347101 | CTCTCTCT others(41): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 | 1 | 276 | 0.0036 | -48 | c.-31 others(59): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2997 | chr5 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842801 | TATAGATG others(41): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 433 | 0.0023 | -48 | c.-26 others(59): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2147 | chr20 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149786168 | CCCCCAAC others(41): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 332 | 0.0030 | -48 | c.193 others(65): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMTD1_chr8_51812583_51904036 | 51891668 | AACAAAAA others(41): Show |
A | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0244 | 1 | 334 | 0.0030 | -48 | c.-96 others(65): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76040337 | CTCTCTCT others(41): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA20129.hp2 |
a0003a0011 | a0003c0057a0011c0078 | a0003c0057t0018a0011c0078t0001 | a0003c0057t0018g0056 a0011c0078t0001g0006 |
2 | 164 | 0.0122 | -48 | c.632 others(67): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101310307 | CCAAAGAG others(41): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0010 | a0010c0040 | a0010c0040t0003 | a0010c0040t0003g0078 | 1 | 334 | 0.0030 | -48 | c.269 others(67): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165422300 | CGCATACA others(41): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0013 others(7): Show |
10 | 218 | 0.0459 | -48 | c.165 others(67): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 10/21 | chr6 | TogoVar |