| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDXK_chr21_43714129_43767299 | 43741430 | CGGGGGGC others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG03130.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0160a0001c0001t0001g0244a0001c0001t0036g0341 | 3 | 358 | 0.0084 | -12 | c.143 others(27): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43750774 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0083a0001c0001t0084a0001c0001t0087others(1): Show | a0001c0001t0083g0355a0001c0001t0084g0356a0001c0001t0087g0338others(1): Show | 4 | 358 | 0.0112 | -12 | c.510 others(27): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026a0001c0001t0003g0055 | 4 | 418 | 0.0096 | -12 | c.574 others(29): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31682671 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(50): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0038a0001c0001t0001g0047a0001c0001t0001g0059others(50): Show | 53 | 216 | 0.2454 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31689239 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0010a0001c0017others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(14): Show | a0001c0001t0001g0165a0001c0001t0001g0186a0001c0001t0002g0095others(15): Show | 18 | 216 | 0.0833 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31705199 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0045a0001c0001t0001g0081a0001c0001t0001g0083others(21): Show | 24 | 216 | 0.1111 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31709499 | TAAAAGGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0005a0001c0007others(45): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0052others(127): Show | 130 | 216 | 0.6019 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31717550 | CTTAACCT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02572.hp1 others(4): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0003a0005c0009others(3): Show | a0001c0001t0001a0001c0001t0010a0002c0003t0002others(4): Show | a0001c0001t0001g0052a0001c0001t0010g0040a0002c0003t0002g0197others(4): Show | 7 | 216 | 0.0324 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
| PDZD2_chr5_31634131_32115932 | 31721481 | TTAGAAAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(39): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(29): Show | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0059others(39): Show | 42 | 216 | 0.1944 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
| PDZD2_chr5_31634131_32115932 | 31729099 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp2 others(45): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0094a0001c0001t0001g0112a0001c0001t0001g0140others(45): Show | 48 | 216 | 0.2222 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31776626 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp2 others(64): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0007others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0045others(64): Show | 67 | 216 | 0.3102 | -12 | c.-36 others(33): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31802530 | AGAAAATG others(5): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0007a0001c0034others(3): Show | a0001c0001t0016a0001c0007t0009a0001c0034t0019others(3): Show | a0001c0001t0016g0057a0001c0007t0009g0172a0001c0034t0019g0212others(3): Show | 6 | 216 | 0.0278 | -12 | c.476 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31811991 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(24): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0007a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(21): Show | a0001c0001t0001g0180a0001c0001t0001g0186a0001c0001t0001g0195others(24): Show | 27 | 216 | 0.1250 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31815245 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(4): Show |
a0002a0004a0010others(2): Show | a0002c0003a0004c0006a0010c0039others(2): Show | a0002c0003t0002a0004c0006t0007a0004c0006t0010others(3): Show | a0002c0003t0002g0171a0004c0006t0007g0201a0004c0006t0010g0166others(4): Show | 7 | 216 | 0.0324 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31837016 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp1 others(63): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0007others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(42): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(63): Show | 66 | 216 | 0.3056 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31840396 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0010t0015others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0008g0181others(2): Show | 5 | 216 | 0.0232 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31849879 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0004 | a0001c0005a0001c0007a0001c0050others(3): Show | a0001c0005t0001a0001c0007t0009a0001c0050t0036others(3): Show | a0001c0005t0001g0182a0001c0007t0009g0142a0001c0050t0036g0148others(3): Show | 6 | 216 | 0.0278 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31850006 | ATACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0015 | a0006c0015t0046 | a0006c0015t0046g0005 | 1 | 216 | 0.0046 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31856908 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0037others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0151a0001c0001t0001g0152others(8): Show | 11 | 216 | 0.0509 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31862553 | CTTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0037others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0151a0001c0001t0001g0152others(8): Show | 11 | 216 | 0.0509 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31873533 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0007 | a0001c0001t0001g0059a0001c0024t0007g0046 | 2 | 216 | 0.0093 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31881326 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(12): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0007a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0007t0047others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0180others(12): Show | 15 | 216 | 0.0694 | -12 | c.476 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31896323 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0007a0001c0010others(11): Show | a0001c0001t0022a0001c0007t0009a0001c0010t0015others(11): Show | a0001c0001t0022g0170a0001c0007t0009g0058a0001c0010t0015g0199others(11): Show | 14 | 216 | 0.0648 | -12 | c.477 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31919737 | GCACAGTG others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 216 | 0.0046 | -12 | c.477 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31930213 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG03041.hp2 |
a0001a0021 | a0001c0001a0001c0010a0021c0031 | a0001c0001t0001a0001c0010t0015a0021c0031t0001 | a0001c0001t0001g0140a0001c0010t0015g0196a0021c0031t0001g0147 | 3 | 216 | 0.0139 | -12 | c.477 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
| PDZD2_chr5_31634131_32115932 | 31932552 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(1): Show |
a0001a0002a0020others(1): Show | a0001c0007a0002c0002a0020c0059others(1): Show | a0001c0007t0009a0002c0002t0008a0020c0059t0001others(1): Show | a0001c0007t0009g0058a0002c0002t0008g0175a0020c0059t0001g0060others(1): Show | 4 | 216 | 0.0185 | -12 | c.477 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31975795 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02486.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0008a0001c0001t0041a0001c0024t0007others(5): Show | a0001c0001t0008g0161a0001c0001t0041g0210a0001c0024t0007g0046others(5): Show | 8 | 216 | 0.0370 | -12 | c.477 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 32000479 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(87): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0001c0024others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0047others(87): Show | 90 | 216 | 0.4167 | -12 | c.125 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 32002746 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG03139.hp1 |
a0001a0028 | a0001c0001a0028c0051 | a0001c0001t0008a0028c0051t0008 | a0001c0001t0008g0068a0028c0051t0008g0169 | 2 | 216 | 0.0093 | -12 | c.125 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | chr5 | TogoVar | ||||||
| PDZD2_chr5_31634131_32115932 | 32003237 | TTCACACA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02647.hp2 others(7): Show |
a0001a0013a0030 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0001g0045a0001c0001t0008g0181a0001c0001t0017g0185others(7): Show | 10 | 216 | 0.0463 | -12 | c.125 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | chr5 | TogoVar | ||||||
| PDZD2_chr5_31634131_32115932 | 32003338 | ACCACACA others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02145.hp1 others(10): Show |
a0001a0004a0011others(2): Show | a0001c0001a0001c0005a0001c0036others(6): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0041others(9): Show | a0001c0001t0001g0180a0001c0001t0001g0186a0001c0001t0017g0184others(10): Show | 13 | 216 | 0.0602 | -12 | c.125 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 32006907 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017 | a0001c0001t0010g0040a0001c0001t0017g0185 | 2 | 216 | 0.0093 | -12 | c.125 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 32008136 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp1 |
a0001a0004 | a0001c0010a0004c0006 | a0001c0010t0015a0004c0006t0007 | a0001c0010t0015g0199a0004c0006t0007g0190 | 2 | 216 | 0.0093 | -12 | c.125 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD7_chr10_101002679_101036129 | 101019542 | GCCTCCTC others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA18944.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0209a0002c0002t0001g0210 | 2 | 432 | 0.0046 | -12 | c.929 others(27): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | ||||||
| PDZD7_chr10_101002679_101036129 | 101023070 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0105 | 1 | 432 | 0.0023 | -12 | c.542 others(27): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
| PDZD7_chr10_101002679_101036129 | 101025522 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 432 | 0.0023 | -12 | c.227 others(29): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
| PDZD7_chr10_101002679_101036129 | 101026663 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp2 HG03139.hp1 others(3): Show |
a0001a0005a0007 | a0001c0001a0005c0005a0007c0007 | a0001c0001t0001a0001c0001t0005a0005c0005t0022others(1): Show | a0001c0001t0001g0390a0001c0001t0005g0004a0001c0001t0005g0275others(2): Show | 6 | 432 | 0.0139 | -12 | c.227 others(29): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(47): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0015 | a0001c0001t0007a0001c0001t0050a0001c0002t0004others(6): Show | a0001c0001t0007g0143a0001c0001t0007g0153a0001c0001t0007g0154others(47): Show | 50 | 322 | 0.1553 | -12 | c.*19 others(23): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1905 | chr10 | TogoVar | |||||
| PDZD8_chr10_117272274_117380440 | 117290864 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(107): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0188a0001c0001t0001g0189others(106): Show | 110 | 322 | 0.3416 | -12 | c.109 others(29): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117305471 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0009a0001c0002t0028others(3): Show | a0001c0001t0001g0190a0001c0001t0001g0219a0001c0001t0001g0228others(11): Show | 14 | 322 | 0.0435 | -12 | c.109 others(33): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117319392 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0021a0001c0002t0046 | a0001c0002t0002g0098a0001c0002t0021g0113a0001c0002t0021g0129others(1): Show | 4 | 322 | 0.0124 | -12 | c.996 others(27): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117319423 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00741.hp2 others(40): Show |
a0001 | a0001c0001a0001c0012a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0261a0001c0001t0003g0140a0001c0001t0003g0141others(40): Show | 43 | 322 | 0.1335 | -12 | c.996 others(27): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117351210 | CACCAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0039 | 1 | 322 | 0.0031 | -12 | c.873 others(31): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG03669.hp2 NA20129.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0247others(1): Show | 4 | 322 | 0.0124 | -12 | c.872 others(31): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117373604 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0139 | 1 | 322 | 0.0031 | -12 | c.872 others(27): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZD9_chr16_21978865_22006116 | 22000825 | AATGATGA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0201 | 2 | 366 | 0.0055 | -12 | c.31+ others(25): Show |
PDZD9 | ENSG00000155714.14 | transcript | ENST00000424898.3 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| PDZK1IP1_chr1_47178582_47195036 | 47191385 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01358.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(10): Show | 16 | 426 | 0.0376 | -12 | c.-14 others(23): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1350 | chr1 | TogoVar | ||||||
| PDZK1_chr1_145665985_145712368 | 145682009 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0002 | a0001c0001t0001g0140a0004c0007t0002g0297 | 2 | 322 | 0.0062 | -12 | c.597 others(27): Show |
PDZK1 | ENSG00000174827.14 | transcript | ENST00000417171.6 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73388930 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0131 | 2 | 216 | 0.0093 | -12 | c.141 others(29): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73396185 | CCAGCCTG others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0197 | 1 | 216 | 0.0046 | -12 | c.125 others(31): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 5/9 | chr3 | TogoVar |