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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK8_chr9_209865_470255 | 432330 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0003others(32): Show | a0001c0002a0001c0003a0001c0011others(88): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(91): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0043others(172): Show | 175 | 256 | 0.6836 | 0 | c.478 others(6): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 37/47 | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 433978 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0003others(32): Show | a0001c0002a0001c0003a0001c0011others(89): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(92): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0043others(173): Show | 176 | 256 | 0.6875 | 0 | c.488 others(6): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 38/47 | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 443420 | T | A | splice_region_variant others(1): Show |
LOW | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 256 | 0.0039 | 0 | c.549 others(6): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 42/47 | chr9 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98794751 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(254): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(252): Show | 257 | 348 | 0.7385 | 0 | c.615 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 52/52 | chr13 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98826885 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00733.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0234a0001c0009t0001g0235a0001c0009t0001g0236others(3): Show | 6 | 348 | 0.0172 | 0 | c.496 others(4): Show |
p.Ala others(7): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 44/53 | 5123/7631 | 4968/6279 | 1656/2092 | chr13 | TogoVar | ||
DOCK9_chr13_98788429_98983064 | 98829529 | C | T | splice_region_variant others(1): Show |
LOW | HG01361.hp2 HG01516.hp1 HG02300.hp2 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0005a0002c0008t0005g0006a0002c0008t0005g0007others(1): Show | 4 | 348 | 0.0115 | 0 | c.475 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 42/52 | chr13 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98853525 | A | G | splice_region_variant others(1): Show |
LOW | HG01981.hp2 HG02257.hp1 HG02258.hp1 others(10): Show |
a0001a0007 | a0001c0002a0001c0013a0001c0031others(1): Show | a0001c0002t0001a0001c0013t0002a0001c0031t0001others(1): Show | a0001c0002t0001g0011a0001c0002t0001g0021a0001c0002t0001g0072others(10): Show | 13 | 348 | 0.0374 | 0 | c.383 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 34/52 | chr13 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98860520 | A | G | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG01934.hp1 HG01981.hp2 others(34): Show |
a0001a0007 | a0001c0002a0001c0013a0001c0031others(1): Show | a0001c0002t0001a0001c0002t0013a0001c0013t0002others(2): Show | a0001c0002t0001g0011a0001c0002t0001g0021a0001c0002t0001g0066others(34): Show | 37 | 348 | 0.1063 | 0 | c.358 others(4): Show |
p.Thr others(7): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 33/53 | 3737/7631 | 3582/6279 | 1194/2092 | chr13 | TogoVar | ||
DOCK9_chr13_98788429_98983064 | 98884963 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(218): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(217): Show | 221 | 348 | 0.6351 | 0 | c.238 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 21/52 | chr13 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98885838 | G | A | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 348 | 0.0029 | 0 | c.213 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 19/52 | chr13 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98888152 | A | C | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00558.hp2 HG01106.hp1 others(66): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0001t0001g0089a0001c0001t0001g0151a0001c0003t0002g0060others(66): Show | 69 | 348 | 0.1983 | 0 | c.204 others(6): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 18/52 | chr13 | TogoVar | ||||||
DOK1_chr2_74549720_74562551 | 74555561 | G | GCTCT | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01256.hp2 HG02109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0002t0001g0002 | 27 | 334 | 0.0808 | 4 | c.361 others(16): Show |
DOK1 | ENSG00000115325.14 | transcript | ENST00000233668.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DOK3_chr5_177496904_177514826 | 177508548 | G | A | splice_region_variant others(1): Show |
LOW | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 436 | 0.0023 | 0 | c.67- others(4): Show |
DOK3 | ENSG00000146094.16 | transcript | ENST00000510898.7 | protein_coding | 2/5 | chr5 | TogoVar | ||||||
DOK4_chr16_57466922_57491493 | 57473895 | C | A | splice_region_variant others(1): Show |
LOW | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 410 | 0.0024 | 0 | c.738 others(5): Show |
DOK4 | ENSG00000125170.11 | transcript | ENST00000340099.10 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3463437 | C | T | splice_region_variant others(1): Show |
LOW | NA18964.hp2 NA18971.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024a0002c0002t0001g0376 | 3 | 404 | 0.0074 | 0 | c.54+ others(4): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476338 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02572.hp2 HG02723.hp1 |
a0011a0013 | a0011c0011a0013c0029 | a0011c0011t0013a0013c0029t0002 | a0011c0011t0013g0040a0011c0011t0013g0366a0013c0029t0002g0026 | 3 | 404 | 0.0074 | 0 | c.332 others(5): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | chr4 | TogoVar | ||||||
DOLPP1_chr9_129076111_129095438 | 129085204 | C | T | splice_region_variant others(1): Show |
LOW | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 414 | 0.0024 | 0 | c.263 others(5): Show |
DOLPP1 | ENSG00000167130.18 | transcript | ENST00000372546.9 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83096733 | A | C | splice_region_variant | LOW | HG02723.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0018a0006c0006t0004g0019a0006c0006t0004g0020others(1): Show | 4 | 298 | 0.0134 | 0 | c.-14 others(4): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 2/39 | chr6 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36223223 | T | C | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0258a0001c0001t0002g0062 | 2 | 292 | 0.0069 | 0 | c.125 others(6): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 10/36 | chr21 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36239762 | C | T | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG02559.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0044 | a0001c0001t0001a0001c0044t0002 | a0001c0001t0001g0162a0001c0001t0001g0281a0001c0044t0002g0043 | 3 | 292 | 0.0103 | 0 | c.287 others(6): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 17/36 | chr21 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36246681 | C | T | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0043 | 1 | 292 | 0.0034 | 0 | c.469 others(6): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 19/36 | chr21 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36288743 | A | AT | splice_region_variant others(1): Show |
LOW | HG00609.hp1 HG00621.hp1 HG00639.hp2 others(51): Show |
a0001a0002a0005others(6): Show | a0001c0002a0001c0025a0002c0004others(10): Show | a0001c0002t0001a0001c0025t0002a0002c0004t0001others(14): Show | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0226others(51): Show | 54 | 292 | 0.1849 | 1 | c.629 others(7): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DOT1L_chr19_2158933_2237578 | 2193789 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02559.hp2 |
a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0314a0002c0014t0003g0316 | 2 | 378 | 0.0053 | 0 | c.588 others(5): Show |
DOT1L | ENSG00000104885.19 | transcript | ENST00000398665.8 | protein_coding | 6/27 | chr19 | TogoVar | ||||||
DOT1L_chr19_2158933_2237578 | 2211096 | C | T | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 378 | 0.0027 | 0 | c.135 others(6): Show |
DOT1L | ENSG00000104885.19 | transcript | ENST00000398665.8 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
DOT1L_chr19_2158933_2237578 | 2223276 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(26): Show |
a0001a0002a0017others(1): Show | a0001c0001a0002c0004a0002c0007others(3): Show | a0001c0001t0001a0002c0004t0004a0002c0004t0007others(5): Show | a0001c0001t0001g0109a0001c0001t0001g0368a0002c0004t0004g0001others(25): Show | 29 | 378 | 0.0767 | 0 | c.339 others(6): Show |
DOT1L | ENSG00000104885.19 | transcript | ENST00000398665.8 | protein_coding | 24/27 | chr19 | TogoVar | ||||||
DOT1L_chr19_2158933_2237578 | 2227131 | G | C | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02615.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0130a0001c0001t0001g0293a0001c0001t0001g0295others(4): Show | 7 | 378 | 0.0185 | 0 | c.460 others(6): Show |
DOT1L | ENSG00000104885.19 | transcript | ENST00000398665.8 | protein_coding | 27/27 | chr19 | TogoVar | ||||||
DPCD_chr10_101583321_101614662 | 101600697 | TGATGCTT others(12): Show |
T | splice_region_variant others(1): Show |
LOW | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 342 | 0.0029 | -19 | c.146 others(31): Show |
DPCD | ENSG00000166171.13 | transcript | ENST00000370151.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89636043 | A | AC | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG01192.hp1 HG01243.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0045others(5): Show | 8 | 250 | 0.0320 | 1 | c.237 others(6): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89636260 | A | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 250 | 0.0040 | 0 | c.238 others(5): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
DPEP2_chr16_67982394_68004484 | 67990129 | C | A | missense_variant others(1): Show |
MODERATE | HG03927.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0067 | 1 | 356 | 0.0028 | 0 | c.912 others(3): Show |
p.Lys others(6): Show |
DPEP2 | ENSG00000167261.14 | transcript | ENST00000393847.6 | protein_coding | 8/11 | 1067/1728 | 912/1461 | 304/486 | chr16 | TogoVar | ||
DPF1_chr19_38206006_38229222 | 38212137 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(117): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(67): Show | 120 | 434 | 0.2765 | 0 | c.109 others(6): Show |
DPF1 | ENSG00000011332.22 | transcript | ENST00000355526.10 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
DPF1_chr19_38206006_38229222 | 38212275 | C | T | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 434 | 0.0023 | 0 | c.109 others(6): Show |
DPF1 | ENSG00000011332.22 | transcript | ENST00000355526.10 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
DPF1_chr19_38206006_38229222 | 38216349 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(288): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(168): Show | 291 | 434 | 0.6705 | 0 | c.778 others(5): Show |
DPF1 | ENSG00000011332.22 | transcript | ENST00000355526.10 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
DPF1_chr19_38206006_38229222 | 38218928 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(359): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(221): Show | 362 | 434 | 0.8341 | 0 | c.426 others(5): Show |
DPF1 | ENSG00000011332.22 | transcript | ENST00000355526.10 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DPF2_chr11_65328852_65359262 | 65345922 | C | T | splice_region_variant others(1): Show |
LOW | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 354 | 0.0028 | 0 | c.776 others(5): Show |
DPF2 | ENSG00000133884.11 | transcript | ENST00000528416.6 | protein_coding | 7/10 | chr11 | TogoVar | ||||||
DPF2_chr11_65328852_65359262 | 65346243 | A | C | splice_region_variant others(1): Show |
LOW | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 354 | 0.0028 | 0 | c.905 others(5): Show |
DPF2 | ENSG00000133884.11 | transcript | ENST00000528416.6 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72619990 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0221 | 1 | 234 | 0.0043 | 0 | c.985 others(5): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72753374 | G | A | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0149 | 1 | 234 | 0.0043 | 0 | c.194 others(5): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 2/10 | chr14 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2036690 | G | C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0244a0001c0001t0002g0149 | 2 | 392 | 0.0051 | 0 | c.558 others(5): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 5/12 | chr17 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2041096 | T | C | splice_region_variant others(1): Show |
LOW | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 392 | 0.0026 | 0 | c.100 others(6): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2041098 | C | T | splice_region_variant others(1): Show |
LOW | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 392 | 0.0026 | 0 | c.100 others(6): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2041883 | C | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01257.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0165a0001c0001t0001g0167others(3): Show | 6 | 392 | 0.0153 | 0 | c.*18 others(5): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
DPH2_chr1_43965010_43978369 | 43972415 | C | T | missense_variant others(1): Show |
MODERATE | NA21309.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0001 | 1 | 384 | 0.0026 | 0 | c.134 others(4): Show |
p.Ala others(6): Show |
DPH2 | ENSG00000132768.14 | transcript | ENST00000255108.8 | protein_coding | 6/6 | 1512/2466 | 1346/1470 | 449/489 | chr1 | TogoVar | ||
DPH5_chr1_100984623_101030784 | 100992744 | T | C | splice_region_variant others(1): Show |
LOW | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 282 | 0.0036 | 0 | c.531 others(5): Show |
DPH5 | ENSG00000117543.22 | transcript | ENST00000370109.8 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35372205 | TA | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0047others(79): Show | 82 | 228 | 0.3597 | -1 | c.751 others(6): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35381814 | T | C | splice_region_variant others(1): Show |
LOW | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 228 | 0.0044 | 0 | c.662 others(5): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137564609 | G | A | splice_region_variant others(1): Show |
LOW | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 340 | 0.0029 | 0 | c.777 others(5): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 7/8 | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137574734 | ACCAAGCC others(3): Show |
A | splice_region_variant others(1): Show |
LOW | HG02738.hp2 HG03491.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0228others(1): Show | 4 | 340 | 0.0118 | -10 | c.467 others(22): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 4/8 | chr9 | TogoVar | ||||||
DPM1_chr20_50929870_50963532 | 50935242 | T | TA | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00741.hp1 HG01106.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0049others(29): Show | 38 | 380 | 0.1000 | 1 | c.679 others(12): Show |
DPM1 | ENSG00000000419.14 | transcript | ENST00000371588.10 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
DPM1_chr20_50929870_50963532 | 50935242 | T | TAA | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02559.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0266a0001c0001t0001g0267others(2): Show | 7 | 380 | 0.0184 | 2 | c.679 others(13): Show |
DPM1 | ENSG00000000419.14 | transcript | ENST00000371588.10 | protein_coding | 8/8 | chr20 | TogoVar |