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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDXDC1_chr16_14970026_15043332 | 14991267 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02257.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0005a0001c0003t0002a0001c0005t0005 | a0001c0001t0005g0113a0001c0003t0002g0194a0001c0003t0002g0195others(5): Show | 8 | 279 | 0.0287 | -10 | c.22- others(25): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXDC1_chr16_14970026_15043332 | 15007157 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138a0001c0001t0003g0147 | 2 | 279 | 0.0072 | -10 | c.579 others(25): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXDC1_chr16_14970026_15043332 | 15020975 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115a0001c0001t0005g0157 | 2 | 279 | 0.0072 | -10 | c.109 others(29): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43737608 | CTGCTGCA others(3): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0097 | 1 | 358 | 0.0028 | -10 | c.142 others(27): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741154 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0086 | a0001c0001t0052g0358a0001c0001t0086g0089 | 2 | 358 | 0.0056 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741223 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 358 | 0.0028 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741235 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 358 | 0.0028 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741246 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0340 | 1 | 358 | 0.0028 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741362 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG01081.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0304a0001c0001t0022g0351 | 2 | 358 | 0.0056 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741373 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02055.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0001g0299a0001c0001t0021g0269a0001c0001t0022g0353others(2): Show | 5 | 358 | 0.0140 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741454 | GGGGGGCT others(3): Show |
G | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0100 | 1 | 358 | 0.0028 | -10 | c.143 others(25): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0022others(12): Show | 41 | 418 | 0.0981 | -10 | c.574 others(27): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PDXP_chr22_37653723_37671932 | 37663919 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp1 others(92): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0100a0001c0001t0002g0001a0001c0001t0002g0011others(24): Show | 95 | 418 | 0.2273 | -10 | c.575 others(27): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PDXP_chr22_37653723_37671932 | 37669429 | CTTTTGTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03239.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0005 | a0001c0001t0002g0001a0001c0001t0005g0146a0002c0002t0005g0050 | 3 | 418 | 0.0072 | -10 | c.*35 others(21): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 2498 | chr22 | TogoVar | ||||||
PDYN_chr20_1973759_1999058 | 1996765 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 4 | 390 | 0.0103 | -10 | c.-29 others(21): Show |
PDYN | ENSG00000101327.9 | transcript | ENST00000217305.3 | protein_coding | 2708 | chr20 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31649937 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0038a0001c0001t0001g0162a0001c0001t0002g0075others(23): Show | 26 | 216 | 0.1204 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31682671 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG02572.hp1 others(5): Show |
a0001a0004a0029others(1): Show | a0001c0001a0001c0053a0004c0006others(2): Show | a0001c0001t0001a0001c0053t0001a0004c0006t0010others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0083a0001c0001t0001g0094others(5): Show | 8 | 216 | 0.0370 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31697897 | ATTATCAT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(118): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0005a0001c0007others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(76): Show | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0052others(118): Show | 121 | 216 | 0.5602 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31703937 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 216 | 0.0046 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31703957 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0081others(43): Show | 46 | 216 | 0.2130 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31705201 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(76): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(76): Show | 79 | 216 | 0.3657 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31712473 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02572.hp1 others(1): Show |
a0001a0002a0033others(1): Show | a0001c0001a0002c0003a0033c0042others(1): Show | a0001c0001t0001a0002c0003t0002a0033c0042t0014others(1): Show | a0001c0001t0001g0052a0002c0003t0002g0197a0033c0042t0014g0187others(1): Show | 4 | 216 | 0.0185 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31729813 | GTTGTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0158 | 1 | 216 | 0.0046 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31740524 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0164 | 1 | 216 | 0.0046 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31741192 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG03491.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0140a0002c0003t0002g0093 | 2 | 216 | 0.0093 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31775664 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG03491.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0038a0002c0003t0002g0093 | 2 | 216 | 0.0093 | -10 | c.-36 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31790691 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0018 | a0018c0047 | a0018c0047t0001 | a0018c0047t0001g0189 | 1 | 216 | 0.0046 | -10 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31813449 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp1 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0047a0001c0001t0001g0066others(11): Show | 14 | 216 | 0.0648 | -10 | 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 | 31840227 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(65): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0001c0007others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(47): Show | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0083others(65): Show | 68 | 216 | 0.3148 | -10 | 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 | 31840396 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0035others(12): Show | a0001c0001t0001g0130a0001c0001t0001g0151a0001c0001t0001g0152others(15): Show | 18 | 216 | 0.0833 | -10 | 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 | 31849881 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01168.hp1 others(34): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(22): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0052others(34): Show | 37 | 216 | 0.1713 | -10 | 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 | 31850008 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp1 NA18939.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0044a0002c0002t0003g0026 | 2 | 216 | 0.0093 | -10 | c.476 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31865621 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0057 | 1 | 216 | 0.0046 | -10 | 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 | 31881326 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0009 | a0009c0018 | a0009c0018t0006 | a0009c0018t0006g0177 | 1 | 216 | 0.0046 | -10 | 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 | 31892862 | TGCCCAGC others(3): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 216 | 0.0046 | -10 | 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 | 31896323 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(11): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(7): Show | a0001c0001t0001g0052a0001c0001t0001g0151a0001c0001t0001g0152others(11): Show | 14 | 216 | 0.0648 | -10 | 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 | 31911425 | ATGCCACC others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0006 | a0004c0006t0010 | a0004c0006t0010g0166 | 1 | 216 | 0.0046 | -10 | 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 | 31920283 | CAAAAATA others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0044others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0047a0001c0001t0001g0083a0001c0001t0001g0146others(30): Show | 33 | 216 | 0.1528 | -10 | 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 | 31930196 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 HG02886.hp1 others(5): Show |
a0001a0004a0005others(4): Show | a0001c0007a0004c0006a0005c0009others(4): Show | a0001c0007t0009a0004c0006t0010a0005c0009t0013others(4): Show | a0001c0007t0009g0142a0001c0007t0009g0183a0004c0006t0010g0173others(5): Show | 8 | 216 | 0.0370 | -10 | 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 | 31930215 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02647.hp1 HG02717.hp2 others(8): Show |
a0001a0002a0005others(4): Show | a0001c0005a0001c0007a0002c0002others(6): Show | a0001c0005t0048a0001c0007t0009a0002c0002t0001others(7): Show | a0001c0005t0048g0002a0001c0007t0009g0172a0002c0002t0001g0120others(8): Show | 11 | 216 | 0.0509 | -10 | c.477 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32014706 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0008a0001c0024t0007 | a0001c0001t0008g0161a0001c0024t0007g0046 | 2 | 216 | 0.0093 | -10 | c.140 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32025591 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(73): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0010others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(73): Show | 76 | 216 | 0.3519 | -10 | c.140 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32026887 | TTTTTTTG others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0195 | 2 | 216 | 0.0093 | -10 | c.140 others(31): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32079259 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 216 | 0.0046 | -10 | c.368 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD7_chr10_101002679_101036129 | 101017833 | AGGAAGGA others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0423a0002c0002t0003g0388 | 2 | 432 | 0.0046 | -10 | c.152 others(27): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101026663 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02486.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0008a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0002c0008t0004others(5): Show | a0001c0001t0002g0277a0001c0001t0005g0027a0002c0008t0004g0025others(5): Show | 8 | 432 | 0.0185 | -10 | c.227 others(27): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117275288 | CACATGTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0006a0001c0002t0006a0001c0002t0022others(4): Show | a0001c0001t0006g0015a0001c0002t0006g0119a0001c0002t0006g0121others(11): Show | 14 | 322 | 0.0435 | -10 | c.*79 others(21): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1985 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01243.hp1 others(18): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0008a0001c0002t0009a0001c0002t0022others(6): Show | a0001c0002t0008g0039a0001c0002t0008g0047a0001c0002t0008g0076others(18): Show | 21 | 322 | 0.0652 | -10 | c.*19 others(21): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1907 | chr10 | TogoVar | |||||
PDZD8_chr10_117272274_117380440 | 117305471 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01433.hp2 others(19): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0010c0017 | a0001c0001t0001a0002c0003t0012a0002c0003t0013others(3): Show | a0001c0001t0001g0205a0001c0001t0001g0207a0001c0001t0001g0220others(19): Show | 22 | 322 | 0.0683 | -10 | c.109 others(31): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117319392 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(77): Show |
a0001a0003a0007others(2): Show | a0001c0002a0001c0008a0003c0005others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(17): Show | a0001c0002t0002g0044a0001c0002t0002g0045a0001c0002t0002g0046others(77): Show | 80 | 322 | 0.2485 | -10 | c.996 others(25): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar |