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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCCA_chr13_100084093_100535435 | 100400623 | TTTAGTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0083 others(7): Show |
10 | 174 | 0.0575 | -7 | c.174 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100531800 | ATATTTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(95): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
98 | 174 | 0.5632 | -7 | c.*16 others(18): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 1366 | chr13 | TogoVar | |||||||
PCCB_chr3_136245340_136335169 | 136317212 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(24): Show |
27 | 300 | 0.0900 | -7 | c.109 others(24): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91789200 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(34): Show |
37 | 154 | 0.2403 | -7 | c.-37 others(26): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91853847 | ACTTTTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0025 | a0001c0001t0006g0053 a0001c0001t0012g0052 a0001c0001t0025g0059 |
3 | 154 | 0.0195 | -7 | c.540 others(26): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92111219 | TAAAAAAA | T | intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0031 | a0001c0003t0001g0145 a0001c0009t0031g0044 |
2 | 154 | 0.0130 | -7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148008 | TTTCTTTC | T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 154 | 0.0065 | -7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92230448 | ATATAATT | A | intron_variant | MODIFIER | HG02572.hp1 NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0018 a0001c0001t0002g0085 a0001c0001t0006g0003 |
3 | 154 | 0.0195 | -7 | c.311 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92355417 | CAAAAAAA | C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 154 | 0.0065 | -7 | c.314 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92355442 | AAAAAAAG | A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 154 | 0.0065 | -7 | c.314 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92412505 | AATAGTAT | A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0029 | a0001c0001t0001g0140 a0001c0001t0002g0076 a0001c0001t0029g0024 |
3 | 154 | 0.0195 | -7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92419669 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0014 | 1 | 154 | 0.0065 | -7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92452492 | TATATATG | T | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01943.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0152 others(12): Show |
15 | 154 | 0.0974 | -7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | chrX | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92496793 | CACTATAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0001 a0001c0001t0006g0022 a0001c0001t0007g0017 others(5): Show |
8 | 154 | 0.0520 | -7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01496.hp2 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0042 others(9): Show |
12 | 154 | 0.0779 | -7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92545387 | CTTTTTTT | C | intron_variant | MODIFIER | HG02015.hp1 HG02258.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0006g0053 others(2): Show |
5 | 154 | 0.0325 | -7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92563047 | GTTTTTTT | G | intron_variant | MODIFIER | HG01934.hp1 HG02027.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0002g0095 others(4): Show |
7 | 154 | 0.0455 | -7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92579325 | TATCTTGA | T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 154 | 0.0065 | -7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92613542 | TTGTTGTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01109.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(33): Show |
36 | 154 | 0.2338 | -7 | c.336 others(26): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5068012 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 |
3 | 115 | 0.0261 | -7 | c.360 others(26): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5267197 | CTTTTTTT | C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 115 | 0.0087 | -7 | c.285 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5402652 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0057 | 1 | 115 | 0.0087 | -7 | c.285 others(28): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5575352 | TTAATAAA | T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0112 | 1 | 115 | 0.0087 | -7 | c.305 others(26): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH12_chr5_141938581_141963202 | 141940429 | AGCCCACC | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0009others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(97): Show |
304 | 412 | 0.7379 | -7 | c.*49 others(18): Show |
PCDH12 | ENSG00000113555.6 | transcript | ENST00000231484.4 | protein_coding | 3151 | chr5 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53828207 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG03471.hp1 others(4): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0014a0002c0002t0023a0003c0003t0001others(4): Show | a0001c0001t0014g0074 a0002c0002t0023g0034 a0003c0003t0001g0084 others(4): Show |
7 | 102 | 0.0686 | -7 | c.421 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 31/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53888695 | ATATATAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG06807.hp1 |
a0002a0019a0025 | a0002c0002a0019c0019a0025c0027 | a0002c0002t0007a0019c0019t0015a0025c0027t0001 | a0002c0002t0007g0038 a0019c0019t0015g0001 a0025c0027t0001g0080 |
3 | 102 | 0.0294 | -7 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53930457 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG03130.hp1 others(4): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0004a0005c0005others(3): Show | a0002c0002t0004a0004c0004t0005a0005c0005t0004others(3): Show | a0002c0002t0004g0097 a0004c0004t0005g0024 a0004c0004t0005g0025 others(4): Show |
7 | 102 | 0.0686 | -7 | c.337 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 25/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54296144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG03041.hp2 HG03225.hp2 others(2): Show |
a0001a0002a0017others(2): Show | a0001c0001a0002c0002a0017c0024others(2): Show | a0001c0001t0003a0002c0002t0023a0017c0024t0001others(2): Show | a0001c0001t0003g0098 a0002c0002t0023g0034 a0017c0024t0001g0053 others(2): Show |
5 | 102 | 0.0490 | -7 | c.876 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54345801 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01081.hp1 others(5): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0005others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0002g0070 others(5): Show |
8 | 102 | 0.0784 | -7 | c.594 others(22): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54421840 | ACACACAC | A | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02896.hp1 others(2): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0010a0008c0007others(2): Show | a0001c0001t0003a0007c0010t0001a0008c0007t0003others(2): Show | a0001c0001t0003g0098 a0007c0010t0001g0091 a0008c0007t0003g0065 others(2): Show |
5 | 102 | 0.0490 | -7 | c.158 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54604078 | TCATATGG | T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(90): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0042a0002c0002others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0022 others(90): Show |
93 | 102 | 0.9118 | -7 | c.91+ others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54617755 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0039 others(38): Show |
41 | 102 | 0.4020 | -7 | c.91+ others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54752485 | AAAAAAAC | A | intron_variant | MODIFIER | HG01884.hp1 HG03492.hp1 HG04184.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0042a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0042t0016others(1): Show | a0001c0001t0001g0014 a0001c0001t0003g0015 a0001c0042t0016g0002 others(1): Show |
4 | 102 | 0.0392 | -7 | c.-29 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54752510 | AAACAAAC | A | intron_variant | MODIFIER | HG00642.hp2 HG02922.hp2 HG03209.hp1 others(2): Show |
a0001a0006a0026others(2): Show | a0001c0001a0006c0006a0026c0015others(2): Show | a0001c0001t0002a0006c0006t0010a0026c0015t0001others(2): Show | a0001c0001t0002g0070 a0006c0006t0010g0030 a0026c0015t0001g0029 others(2): Show |
5 | 102 | 0.0490 | -7 | c.-29 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54756053 | AAAAACAC | A | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 |
a0010a0025 | a0010c0009a0025c0027 | a0010c0009t0011a0025c0027t0001 | a0010c0009t0011g0078 a0025c0027t0001g0080 |
2 | 102 | 0.0196 | -7 | c.-29 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53828207 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG03471.hp1 others(4): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0005a0004c0004others(4): Show | a0002c0002t0009a0003c0005t0001a0004c0004t0001others(4): Show | a0002c0002t0009g0031 a0003c0005t0001g0076 a0004c0004t0001g0023 others(4): Show |
7 | 94 | 0.0745 | -7 | c.421 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 31/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888695 | ATATATAT | A | intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0014a0031 | a0014c0023a0031c0030 | a0014c0023t0006a0031c0030t0001 | a0014c0023t0006g0001 a0031c0030t0001g0035 |
2 | 94 | 0.0213 | -7 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53930457 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG03130.hp1 HG03139.hp2 others(3): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0004a0005c0009others(3): Show | a0002c0002t0002a0004c0004t0001a0005c0009t0002others(3): Show | a0002c0002t0002g0089 a0004c0004t0001g0022 a0005c0009t0002g0070 others(3): Show |
6 | 94 | 0.0638 | -7 | c.337 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54296144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG03041.hp1 HG03225.hp2 others(2): Show |
a0001a0002a0012others(2): Show | a0001c0007a0002c0002a0012c0031others(2): Show | a0001c0007t0001a0002c0002t0009a0012c0031t0001others(2): Show | a0001c0007t0001g0090 a0002c0002t0009g0031 a0012c0031t0001g0051 others(2): Show |
5 | 94 | 0.0532 | -7 | c.876 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54345801 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01081.hp2 others(4): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0008c0016others(1): Show | a0001c0001t0001a0004c0004t0001a0008c0016t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0064 others(4): Show |
7 | 94 | 0.0745 | -7 | c.594 others(22): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54421840 | ACACACAC | A | intron_variant | MODIFIER | HG01192.hp1 HG03041.hp1 HG03139.hp2 |
a0001a0020 | a0001c0001a0001c0007a0020c0022 | a0001c0001t0001a0001c0007t0001a0020c0022t0001 | a0001c0001t0001g0083 a0001c0007t0001g0090 a0020c0022t0001g0004 |
3 | 94 | 0.0319 | -7 | c.158 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54604078 | TCATATGG | T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(82): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0007a0002c0002others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(49): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(82): Show |
85 | 94 | 0.9043 | -7 | c.91+ others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54617755 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00738.hp2 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0002c0002others(19): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(37): Show |
40 | 94 | 0.4255 | -7 | c.91+ others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54752485 | AAAAAAAC | A | intron_variant | MODIFIER | HG01884.hp1 HG03492.hp1 HG04184.hp2 others(1): Show |
a0001a0003a0030 | a0001c0001a0003c0003a0030c0048 | a0001c0001t0001a0003c0003t0001a0030c0048t0007 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0003c0003t0001g0030 others(1): Show |
4 | 94 | 0.0426 | -7 | c.-29 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54752510 | AAACAAAC | A | intron_variant | MODIFIER | HG00642.hp1 HG02922.hp2 HG03209.hp1 others(2): Show |
a0001a0006a0018others(2): Show | a0001c0001a0006c0008a0018c0017others(2): Show | a0001c0001t0001a0006c0008t0001a0018c0017t0001others(2): Show | a0001c0001t0001g0064 a0006c0008t0001g0027 a0018c0017t0001g0026 others(2): Show |
5 | 94 | 0.0532 | -7 | c.-29 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH17_chr13_57626744_57734311 | 57641558 | GAAAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01081.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0101 a0001c0001t0002g0144 others(18): Show |
21 | 310 | 0.0677 | -7 | c.256 others(26): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100295035 | GCTGTTAC | G | 3_prime_UTR_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0136 | 1 | 281 | 0.0036 | -7 | c.*12 others(18): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 6/6 | 1235 | chrX | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100348065 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0274 | 1 | 281 | 0.0036 | -7 | c.267 others(26): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100379340 | CACACACA | C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0002g0097 a0001c0001t0002g0127 a0001c0001t0002g0128 others(6): Show |
9 | 281 | 0.0320 | -7 | c.261 others(28): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31056451 | AAAGAAAG | A | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0005g0041 others(12): Show |
15 | 214 | 0.0701 | -7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |