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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH5_chr5_13685328_13949688 | 13886135 | C | CA | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(7): Show |
a0011a0020a0040others(6): Show | a0011c0082a0020c0014a0040c0153others(7): Show | a0011c0082t0002a0020c0014t0001a0040c0153t0001others(7): Show | a0011c0082t0002g0086a0020c0014t0001g0020a0040c0153t0001g0205others(7): Show | 10 | 252 | 0.0397 | 1 | c.257 others(7): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 17/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13886135 | CA | C | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01074.hp2 HG01109.hp2 others(21): Show |
a0001a0002a0003others(15): Show | a0001c0130a0002c0129a0003c0013others(18): Show | a0001c0130t0017a0002c0129t0009a0003c0013t0002others(18): Show | a0001c0130t0017g0190a0002c0129t0009g0191a0003c0013t0002g0041others(21): Show | 24 | 252 | 0.0952 | -1 | c.257 others(7): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 17/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13886135 | CAA | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(90): Show |
a0001a0002a0004others(52): Show | a0001c0006a0001c0035a0001c0128others(71): Show | a0001c0006t0002a0001c0006t0023a0001c0035t0002others(74): Show | a0001c0006t0002g0120a0001c0006t0002g0132a0001c0006t0023g0233others(90): Show | 93 | 252 | 0.3691 | -2 | c.257 others(15): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 17/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13886135 | CAAA | C | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01168.hp1 HG01192.hp2 others(41): Show |
a0001a0004a0007others(34): Show | a0001c0162a0004c0112a0007c0116others(36): Show | a0001c0162t0002a0004c0112t0001a0007c0116t0002others(36): Show | a0001c0162t0002g0123a0004c0112t0001g0033a0007c0116t0002g0058others(41): Show | 44 | 252 | 0.1746 | -3 | c.257 others(16): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 17/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13886135 | CAAAAA | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02451.hp2 HG02970.hp2 others(3): Show |
a0035a0091a0092others(2): Show | a0035c0025a0091c0115a0092c0114others(2): Show | a0035c0025t0006a0091c0115t0002a0092c0114t0001others(2): Show | a0035c0025t0006g0149a0035c0025t0006g0152a0091c0115t0002g0014others(3): Show | 6 | 252 | 0.0238 | -5 | c.257 others(19): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 17/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13894645 | C | T | splice_region_variant others(1): Show |
LOW | HG02809.hp2 | a0130 | a0130c0141 | a0130c0141t0002 | a0130c0141t0002g0134 | 1 | 252 | 0.0040 | 0 | c.243 others(6): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 16/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13902136 | G | C | missense_variant others(1): Show |
MODERATE | HG01515.hp2 | a0110 | a0110c0186 | a0110c0186t0002 | a0110c0186t0002g0113 | 1 | 252 | 0.0040 | 0 | c.164 others(4): Show |
p.Asn others(6): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 13/79 | 1897/15781 | 1647/13875 | 549/4624 | chr5 | TogoVar | ||
DNAH5_chr5_13685328_13949688 | 13916463 | A | G | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG03041.hp2 |
a0008a0100 | a0008c0065a0100c0057 | a0008c0065t0002a0100c0057t0001 | a0008c0065t0002g0016a0100c0057t0001g0015 | 2 | 252 | 0.0079 | 0 | c.109 others(6): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 8/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13919170 | G | A | splice_region_variant others(1): Show |
LOW | NA19002.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0057 | 1 | 252 | 0.0040 | 0 | c.975 others(5): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 7/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84637385 | T | C | splice_region_variant others(1): Show |
LOW | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0007 | a0007c0009a0007c0047 | a0007c0009t0001a0007c0047t0001 | a0007c0009t0001g0034a0007c0009t0001g0035a0007c0009t0001g0037others(2): Show | 5 | 116 | 0.0431 | 0 | c.482 others(6): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 31/76 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84653321 | G | C | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(26): Show |
a0003a0004a0006others(5): Show | a0003c0002a0003c0040a0004c0007others(9): Show | a0003c0002t0001a0003c0040t0001a0004c0007t0001others(9): Show | a0003c0002t0001g0001a0003c0002t0001g0003a0003c0002t0001g0004others(26): Show | 29 | 116 | 0.2500 | 0 | c.508 others(4): Show |
p.Gly others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 34/77 | 5175/12752 | 5081/12477 | 1694/4158 | chr2 | TogoVar | ||
DNAH6_chr2_84511498_84824589 | 84733446 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0009 | a0009c0046 | a0009c0046t0001 | a0009c0046t0001g0094 | 1 | 116 | 0.0086 | 0 | c.102 others(5): Show |
p.Glu others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 62/77 | 10303/12752 | 10209/12477 | 3403/4158 | chr2 | TogoVar | ||
DNAH6_chr2_84511498_84824589 | 84745077 | C | T | splice_region_variant others(1): Show |
LOW | HG02572.hp2 HG02809.hp2 HG02897.hp2 others(5): Show |
a0005 | a0005c0003a0005c0048 | a0005c0003t0001a0005c0048t0001 | a0005c0003t0001g0095a0005c0003t0001g0096a0005c0003t0001g0098others(5): Show | 8 | 116 | 0.0690 | 0 | c.103 others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 62/76 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84784723 | T | C | splice_region_variant others(1): Show |
LOW | HG02723.hp2 | a0015 | a0015c0042 | a0015c0042t0001 | a0015c0042t0001g0062 | 1 | 116 | 0.0086 | 0 | c.108 others(5): Show |
p.Asp others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 66/77 | 10960/12752 | 10866/12477 | 3622/4158 | chr2 | TogoVar | ||
DNAH6_chr2_84511498_84824589 | 84796430 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00438.hp2 HG00642.hp2 others(57): Show |
a0001a0002a0003others(10): Show | a0001c0010a0001c0020a0001c0021others(22): Show | a0001c0010t0001a0001c0020t0001a0001c0021t0001others(22): Show | a0001c0010t0001g0020a0001c0010t0001g0025a0001c0010t0001g0026others(57): Show | 60 | 116 | 0.5172 | 0 | c.113 others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 69/76 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84813138 | C | T | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG03540.hp1 |
a0012 | a0012c0019a0012c0032 | a0012c0019t0001a0012c0032t0001 | a0012c0019t0001g0033a0012c0032t0001g0074 | 2 | 116 | 0.0172 | 0 | c.119 others(7): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 74/76 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195738125 | C | T | missense_variant others(1): Show |
MODERATE | NA18522.hp1 | a0043 | a0043c0065 | a0043c0065t0001 | a0043c0065t0001g0093 | 1 | 256 | 0.0039 | 0 | c.118 others(5): Show |
p.Met others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 65/65 | 11997/12419 | 11871/12075 | 3957/4024 | chr2 | TogoVar | ||
DNAH7_chr2_195732703_196073837 | 195771897 | A | G | splice_region_variant others(1): Show |
LOW | HG03098.hp2 | a0044 | a0044c0031 | a0044c0031t0001 | a0044c0031t0001g0016 | 1 | 256 | 0.0039 | 0 | c.112 others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 60/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195834202 | A | G | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03453.hp2 HG03486.hp2 others(4): Show |
a0012a0021a0048 | a0012c0011a0021c0071a0048c0027 | a0012c0011t0003a0021c0071t0003a0048c0027t0001 | a0012c0011t0003g0024a0012c0011t0003g0025a0012c0011t0003g0026others(4): Show | 7 | 256 | 0.0273 | 0 | c.910 others(6): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 48/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195876697 | A | C | missense_variant others(1): Show |
MODERATE | NA18979.hp2 | a0024 | a0024c0051 | a0024c0051t0001 | a0024c0051t0001g0183 | 1 | 256 | 0.0039 | 0 | c.596 others(4): Show |
p.Asn others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 37/65 | 6090/12419 | 5964/12075 | 1988/4024 | chr2 | TogoVar | ||
DNAH7_chr2_195732703_196073837 | 195876704 | A | G | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(36): Show |
a0002a0010a0039others(1): Show | a0002c0002a0002c0054a0002c0059others(3): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(3): Show | a0002c0002t0001g0119a0002c0002t0001g0120a0002c0002t0001g0121others(36): Show | 39 | 256 | 0.1523 | 0 | c.596 others(6): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 36/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195884581 | T | C | splice_region_variant others(1): Show |
LOW | HG02647.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0075 | 1 | 256 | 0.0039 | 0 | c.576 others(6): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 35/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195891811 | GA | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(198): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0006a0001c0022others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0002a0001c0001t0001g0053a0001c0001t0001g0187others(198): Show | 201 | 256 | 0.7852 | -1 | c.489 others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 30/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195891811 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(21): Show |
a0006a0007a0017others(2): Show | a0006c0005a0007c0008a0017c0019others(2): Show | a0006c0005t0001a0006c0005t0007a0007c0008t0001others(3): Show | a0006c0005t0001g0004a0006c0005t0001g0005a0006c0005t0001g0006others(21): Show | 24 | 256 | 0.0938 | -2 | c.489 others(15): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 30/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195897767 | T | TA | splice_region_variant others(1): Show |
LOW | HG01169.hp1 HG01934.hp2 HG02135.hp2 others(7): Show |
a0001a0004a0011others(3): Show | a0001c0001a0004c0003a0004c0035others(4): Show | a0001c0001t0001a0001c0001t0002a0004c0003t0004others(5): Show | a0001c0001t0001g0187a0001c0001t0002g0173a0001c0001t0002g0180others(7): Show | 10 | 256 | 0.0391 | 1 | c.454 others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 28/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195897767 | TA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00642.hp2 HG00741.hp2 others(73): Show |
a0001a0002a0005others(20): Show | a0001c0001a0002c0002a0005c0007others(22): Show | a0001c0001t0002a0002c0002t0001a0005c0007t0005others(24): Show | a0001c0001t0002g0175a0001c0001t0002g0214a0002c0002t0001g0121others(73): Show | 76 | 256 | 0.2969 | -1 | c.454 others(7): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 28/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38761806 | T | G | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02258.hp2 HG02622.hp2 others(3): Show |
a0019a0027a0028others(1): Show | a0019c0053a0027c0028a0028c0027others(1): Show | a0019c0053t0001a0027c0028t0001a0028c0027t0001others(1): Show | a0019c0053t0001g0227a0027c0028t0001g0231a0027c0028t0001g0268others(3): Show | 6 | 284 | 0.0211 | 0 | c.161 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38832433 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(79): Show |
a0001a0002a0004others(28): Show | a0001c0035a0001c0097a0001c0105others(42): Show | a0001c0035t0001a0001c0097t0001a0001c0105t0001others(43): Show | a0001c0035t0001g0166a0001c0035t0001g0171a0001c0097t0001g0252others(79): Show | 82 | 284 | 0.2887 | 0 | c.430 others(4): Show |
p.Leu others(7): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 31/93 | 4439/14663 | 4300/14124 | 1434/4707 | chr6 | TogoVar | ||
DNAH8_chr6_38710311_39035792 | 38884004 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp1 | a0025 | a0025c0091 | a0025c0091t0001 | a0025c0091t0001g0156 | 1 | 284 | 0.0035 | 0 | c.825 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 56/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38917234 | TA | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(134): Show |
a0001a0002a0003others(49): Show | a0001c0001a0001c0007a0001c0022others(77): Show | a0001c0001t0001a0001c0007t0001a0001c0022t0001others(79): Show | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0093others(134): Show | 137 | 284 | 0.4824 | -1 | c.101 others(8): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 68/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38923189 | G | A | splice_region_variant others(1): Show |
LOW | HG02738.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0095 | 1 | 284 | 0.0035 | 0 | c.107 others(7): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 72/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38990172 | C | T | missense_variant others(1): Show |
MODERATE | HG02559.hp1 | a0050 | a0050c0128 | a0050c0128t0001 | a0050c0128t0001g0232 | 1 | 284 | 0.0035 | 0 | c.132 others(5): Show |
p.Thr others(7): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 88/93 | 13353/14663 | 13214/14124 | 4405/4707 | chr6 | TogoVar | ||
DNAH9_chr17_11593470_11974748 | 11629583 | C | T | missense_variant others(1): Show |
MODERATE | NA19085.hp1 | a0031 | a0031c0066 | a0031c0066t0001 | a0031c0066t0001g0158 | 1 | 178 | 0.0056 | 0 | c.151 others(4): Show |
p.Thr others(6): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 7/69 | 1546/13711 | 1517/13461 | 506/4486 | chr17 | TogoVar | ||
DNAH9_chr17_11593470_11974748 | 11640271 | G | A | splice_region_variant others(1): Show |
LOW | NA19084.hp2 | a0010 | a0010c0096 | a0010c0096t0001 | a0010c0096t0001g0135 | 1 | 178 | 0.0056 | 0 | c.178 others(4): Show |
p.Gly others(6): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 10/69 | 1817/13711 | 1788/13461 | 596/4486 | chr17 | TogoVar | ||
DNAH9_chr17_11593470_11974748 | 11689553 | CTG | C | splice_region_variant others(1): Show |
LOW | HG02970.hp1 HG03130.hp2 NA18906.hp1 others(1): Show |
a0016a0066a0079 | a0016c0011a0066c0085a0079c0145 | a0016c0011t0001a0066c0085t0001a0079c0145t0001 | a0016c0011t0001g0073a0016c0011t0001g0121a0066c0085t0001g0161others(1): Show | 4 | 178 | 0.0225 | -2 | c.374 others(15): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 19/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11699728 | T | C | splice_region_variant others(1): Show |
LOW | NA19056.hp2 | a0006 | a0006c0046 | a0006c0046t0001 | a0006c0046t0001g0037 | 1 | 178 | 0.0056 | 0 | c.487 others(6): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11807727 | T | C | splice_region_variant others(1): Show |
LOW | NA19043.hp2 | a0008 | a0008c0068 | a0008c0068t0001 | a0008c0068t0001g0099 | 1 | 178 | 0.0056 | 0 | c.842 others(6): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11905807 | A | G | missense_variant others(1): Show |
MODERATE | HG01884.hp1 HG02559.hp1 |
a0051a0053 | a0051c0019a0053c0139 | a0051c0019t0001a0053c0139t0001 | a0051c0019t0001g0001a0053c0139t0001g0106 | 2 | 178 | 0.0112 | 0 | c.117 others(5): Show |
p.Gln others(7): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 61/69 | 11776/13711 | 11747/13461 | 3916/4486 | chr17 | TogoVar | ||
DNAH9_chr17_11593470_11974748 | 11932014 | G | A | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(17): Show |
a0005a0010a0022others(8): Show | a0005c0004a0005c0055a0005c0070others(15): Show | a0005c0004t0001a0005c0055t0001a0005c0070t0001others(15): Show | a0005c0004t0001g0025a0005c0004t0001g0091a0005c0004t0001g0092others(17): Show | 20 | 178 | 0.1124 | 0 | c.121 others(5): Show |
p.Asp others(7): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 64/69 | 12135/13711 | 12106/13461 | 4036/4486 | chr17 | TogoVar | ||
DNAI1_chr9_34453805_34525984 | 34483484 | AG | A | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01934.hp1 HG01978.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019a0002c0002t0001g0314a0002c0002t0001g0315others(1): Show | 5 | 382 | 0.0131 | -1 | c.81+ others(5): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 2/19 | chr9 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34485239 | C | T | missense_variant others(1): Show |
MODERATE | HG01891.hp1 HG02615.hp1 HG02630.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0020a0006c0006t0001g0322a0006c0006t0001g0323others(4): Show | 8 | 382 | 0.0209 | 0 | c.179 others(3): Show |
p.Ala others(5): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 3/20 | 380/2529 | 179/2100 | 60/699 | chr9 | TogoVar | ||
DNAI2_chr17_74269234_74319884 | 74287103 | C | T | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0386 | 1 | 398 | 0.0025 | 0 | c.467 others(5): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74289590 | G | T | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03041.hp1 HG03516.hp2 |
a0004 | a0004c0012 | a0004c0012t0003 | a0004c0012t0003g0228a0004c0012t0003g0233a0004c0012t0003g0234 | 3 | 398 | 0.0075 | 0 | c.468 others(5): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74299862 | C | T | splice_region_variant others(1): Show |
LOW | HG03130.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0232 | 1 | 398 | 0.0025 | 0 | c.864 others(5): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 7/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301041 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00609.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0196a0001c0002t0001g0093a0001c0002t0001g0112others(73): Show | 77 | 398 | 0.1935 | 0 | c.865 others(5): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 7/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74309395 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0056a0001c0001t0001g0065a0001c0001t0001g0155others(106): Show | 114 | 398 | 0.2864 | 0 | c.134 others(6): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74314277 | G | A | splice_region_variant others(1): Show |
LOW | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(6): Show |
a0003a0008 | a0003c0004a0008c0020 | a0003c0004t0001a0003c0004t0002a0008c0020t0003 | a0003c0004t0001g0047a0003c0004t0001g0066a0003c0004t0001g0142others(5): Show | 9 | 398 | 0.0226 | 0 | c.*55 others(5): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85094426 | A | G | splice_region_variant others(1): Show |
LOW | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 374 | 0.0027 | 0 | c.104 others(6): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 9/22 | chr1 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85097661 | C | A | splice_region_variant others(1): Show |
LOW | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 374 | 0.0027 | 0 | c.135 others(6): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85124256 | GT | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(230): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(225): Show | 233 | 374 | 0.6230 | -1 | c.211 others(7): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |