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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARG_chr10_49813279_49947027 | 49920473 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 292 | 0.0034 | -26 | c.166 others(45): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 6/17 | chr10 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14451843 | TAAAAAAA others(19): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0002g0070 others(6): Show |
9 | 169 | 0.0533 | -26 | c.167 others(45): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122698874 | CACTTTGA others(19): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 366 | 0.0027 | -26 | c.836 others(41): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP14_chr3_122675839_122735840 | 122703005 | AAAAAACA others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(9): Show |
a0004a0005 | a0004c0008a0004c0009a0004c0011others(1): Show | a0004c0008t0008a0004c0009t0008a0004c0011t0008others(1): Show | a0004c0008t0008g0076 a0004c0008t0008g0078 a0004c0008t0008g0079 others(7): Show |
12 | 366 | 0.0328 | -26 | c.308 others(43): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24506379 | CTTCCACA others(19): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 362 | 0.0028 | -26 | c.-1- others(41): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 1/33 | chr13 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50754134 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG02735.hp2 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0126 |
3 | 328 | 0.0092 | -26 | c.184 others(43): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50754136 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp2 others(50): Show |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0003a0001c0002t0018a0001c0002t0027others(5): Show | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0071 others(48): Show |
53 | 328 | 0.1616 | -26 | c.184 others(43): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44122502 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01517.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0022 | a0001c0001t0001g0167 a0001c0002t0003g0200 a0001c0002t0022g0177 |
3 | 332 | 0.0090 | -26 | c.376 others(43): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241113415 | CATACCTG others(19): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0020 | a0005c0020t0001 | a0005c0020t0001g0246 | 1 | 376 | 0.0027 | -26 | c.333 others(44): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 14/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241142383 | AAGGAGGC others(19): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 |
a0006 | a0006c0032 | a0006c0032t0009 | a0006c0032t0009g0040 a0006c0032t0009g0041 |
2 | 376 | 0.0053 | -26 | c.196 others(41): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61813356 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02280.hp1 HG02622.hp2 others(2): Show |
a0001a0002a0042others(1): Show | a0001c0024a0001c0048a0002c0029others(2): Show | a0001c0024t0001a0001c0048t0009a0002c0029t0001others(2): Show | a0001c0024t0001g0139 a0001c0048t0009g0080 a0002c0029t0001g0138 others(2): Show |
5 | 158 | 0.0317 | -26 | c.168 others(45): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61813360 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02922.hp1 HG02965.hp1 |
a0002a0012a0045 | a0002c0012a0012c0005a0045c0111 | a0002c0012t0010a0012c0005t0001a0045c0111t0021 | a0002c0012t0010g0150 a0012c0005t0001g0129 a0045c0111t0021g0073 |
3 | 158 | 0.0190 | -26 | c.168 others(45): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62024657 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(24): Show |
a0001a0002a0003others(12): Show | a0001c0059a0002c0049a0002c0094others(21): Show | a0001c0059t0009a0002c0049t0004a0002c0094t0002others(21): Show | a0001c0059t0009g0045 a0002c0049t0004g0029 a0002c0094t0002g0002 others(24): Show |
27 | 158 | 0.1709 | -26 | c.395 others(45): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62094558 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0031 | a0031c0131 | a0031c0131t0004 | a0031c0131t0004g0086 | 1 | 158 | 0.0063 | -26 | c.437 others(45): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613965 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 256 | 0.0039 | -26 | c.649 others(41): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632288 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 256 | 0.0039 | -26 | c.517 others(45): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632296 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0040 a0001c0003t0003g0085 |
2 | 256 | 0.0078 | -26 | c.517 others(45): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638880 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0158 | 1 | 256 | 0.0039 | -26 | c.517 others(45): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721321 | ATGTATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 400 | 0.0025 | -26 | c.*67 others(37): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2841 | chr20 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100745317 | CCTCCCTC others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 232 | 0.0043 | -26 | c.-94 others(35): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 264 | chr10 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222203012 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02723.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0004g0269 a0001c0001t0004g0291 |
3 | 328 | 0.0092 | -26 | c.117 others(43): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222260578 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0119 a0001c0001t0001g0164 a0001c0001t0001g0174 others(14): Show |
17 | 328 | 0.0518 | -26 | c.587 others(45): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31794420 | CCACACAC others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0002t0003g0229 |
3 | 376 | 0.0080 | -26 | c.724 others(41): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18689402 | AAGCCCTG others(19): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG03492.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0004t0002a0001c0004t0013others(1): Show | a0001c0004t0001g0162 a0001c0004t0001g0166 a0001c0004t0002g0240 others(2): Show |
5 | 302 | 0.0166 | -26 | c.587 others(43): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32758900 | TATTGCCC others(19): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 |
3 | 360 | 0.0083 | -26 | c.138 others(43): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 7/17 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771923 | AGAGAGAG others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG03579.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0164 |
3 | 360 | 0.0083 | -26 | c.-28 others(35): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 169 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771949 | CGAGAGAG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 360 | 0.0028 | -26 | c.-30 others(35): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 195 | chr21 | TogoVar | |||||||
PBOV1_chr6_138210986_138223491 | 138217571 | ACTTGAAC others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 384 | 0.0026 | -26 | c.*39 others(35): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 391 | chr6 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0279 | 1 | 300 | 0.0033 | -26 | c.282 others(45): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164651231 | TGGGGAGG others(19): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065 a0001c0001t0002g0004 a0001c0001t0002g0018 |
3 | 184 | 0.0163 | -26 | c.265 others(45): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX2_chr6_32179733_32195202 | 32194170 | TGCTGCAA others(19): Show |
T | upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 435 | 0.0023 | -26 | c.-42 others(37): Show |
PBX2 | ENSG00000204304.12 | transcript | ENST00000375050.6 | protein_coding | 3969 | chr6 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18983.hp1 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0242 others(2): Show |
5 | 294 | 0.0170 | -26 | c.843 others(43): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125970229 | ATGTATGT others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0118 | 1 | 294 | 0.0034 | -26 | c.*43 others(37): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2853 | chr9 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45669801 | GTGTGTAT others(19): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp1 NA18940.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0078 others(2): Show |
5 | 292 | 0.0171 | -26 | c.-20 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898550 | CCAGCCTC others(19): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 292 | 0.0034 | -26 | c.166 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910053 | CCACTGCC others(19): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG01943.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0021 | a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0032 others(21): Show |
24 | 292 | 0.0822 | -26 | c.471 others(41): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910071 | CCCCCCCC others(19): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 a0001c0001t0003g0103 |
2 | 292 | 0.0069 | -26 | c.471 others(41): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264053 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0018 | 1 | 174 | 0.0058 | -26 | c.819 others(43): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG00738.hp2 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0039 others(24): Show |
27 | 174 | 0.1552 | -26 | c.184 others(45): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100440185 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0115 |
2 | 174 | 0.0115 | -26 | c.184 others(45): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100458419 | GCGCGCAC others(19): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG03017.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0096 others(4): Show |
7 | 174 | 0.0402 | -26 | c.189 others(45): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100517046 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01074.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0042 others(26): Show |
29 | 174 | 0.1667 | -26 | c.204 others(45): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136273578 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0266 a0001c0001t0001g0267 others(1): Show |
4 | 300 | 0.0133 | -26 | c.544 others(45): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136300065 | AACACATA others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0205 a0001c0001t0001g0262 others(4): Show |
8 | 300 | 0.0267 | -26 | c.885 others(41): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5312544 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 115 | 0.0087 | -26 | c.285 others(49): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53851671 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0060 | 1 | 102 | 0.0098 | -26 | c.380 others(45): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53918713 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01069.hp2 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0042a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 others(29): Show |
32 | 102 | 0.3137 | -26 | c.337 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 25/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53984116 | GCTTTTCT others(19): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0059 | 1 | 102 | 0.0098 | -26 | c.286 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 21/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54242128 | TTTTATAT others(19): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02896.hp2 others(2): Show |
a0003a0025a0036 | a0003c0003a0025c0027a0036c0012 | a0003c0003t0001a0003c0003t0004a0003c0003t0009others(2): Show | a0003c0003t0001g0017 a0003c0003t0004g0088 a0003c0003t0009g0018 others(2): Show |
5 | 102 | 0.0490 | -26 | c.877 others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54551055 | CGAGGCAG others(19): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp2 |
a0004a0029 | a0004c0004a0029c0026 | a0004c0004t0025a0029c0026t0008 | a0004c0004t0025g0032 a0029c0026t0008g0081 |
2 | 102 | 0.0196 | -26 | c.92- others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar |