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 | 13720542 | CCAGTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02922.hp1 others(2): Show |
a0001a0008a0027others(1): Show | a0001c0143a0008c0063a0027c0147others(1): Show | a0001c0143t0006a0008c0063t0006a0027c0147t0006others(1): Show | a0001c0143t0006g0195a0008c0063t0006g0151a0027c0147t0006g0188others(2): Show | 5 | 252 | 0.0198 | -5 | c.122 others(24): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 71/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13837692 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(55): Show |
a0002a0006a0007others(38): Show | a0002c0180a0006c0003a0006c0041others(46): Show | a0002c0180t0012a0006c0003t0002a0006c0041t0002others(46): Show | a0002c0180t0012g0167a0006c0003t0002g0040a0006c0003t0002g0070others(55): Show | 58 | 252 | 0.2302 | -5 | c.588 others(24): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 35/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13845762 | ATTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(111): Show |
a0002a0004a0005others(72): Show | a0002c0180a0004c0121a0005c0019others(95): Show | a0002c0180t0012a0004c0121t0001a0005c0019t0001others(96): Show | a0002c0180t0012g0167a0004c0121t0001g0093a0005c0019t0001g0057others(111): Show | 114 | 252 | 0.4524 | -5 | c.511 others(22): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 31/78 | 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 | 13929479 | TTTATG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
a0001a0002a0003others(87): Show | a0001c0128a0001c0130a0002c0129others(118): Show | a0001c0128t0005a0001c0130t0017a0002c0129t0009others(121): Show | a0001c0128t0005g0012a0001c0130t0017g0190a0002c0129t0009g0191others(144): Show | 147 | 252 | 0.5833 | -5 | c.193 others(22): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 2/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84553345 | CTTTCT | C | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02717.hp2 others(9): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0005a0005c0003others(4): Show | a0001c0001t0001a0001c0005t0001a0005c0003t0001others(4): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0076others(9): Show | 12 | 116 | 0.1035 | -5 | c.160 others(22): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84598106 | TCGTGG | T | intron_variant | MODIFIER | HG03486.hp2 HG03540.hp1 HG03579.hp2 others(1): Show |
a0001a0005a0012 | a0001c0021a0005c0003a0012c0019 | a0001c0021t0001a0005c0003t0001a0012c0019t0001 | a0001c0021t0001g0032a0005c0003t0001g0098a0005c0003t0001g0103others(1): Show | 4 | 116 | 0.0345 | -5 | c.286 others(24): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84683412 | ATTTTT | A | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02897.hp2 others(5): Show |
a0005 | a0005c0003a0005c0048 | a0005c0003t0001a0005c0048t0001 | a0005c0003t0001g0095a0005c0003t0001g0096a0005c0003t0001g0098others(5): Show | 8 | 116 | 0.0690 | -5 | c.691 others(24): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 42/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84695348 | CATAAT | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01106.hp1 others(12): Show |
a0003a0007a0013 | a0003c0002a0003c0040a0007c0009others(2): Show | a0003c0002t0001a0003c0040t0001a0007c0009t0001others(2): Show | a0003c0002t0001g0001a0003c0002t0001g0003a0003c0002t0001g0004others(12): Show | 15 | 116 | 0.1293 | -5 | c.752 others(22): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 46/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84726779 | TAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01243.hp1 others(28): Show |
a0002a0005a0006others(4): Show | a0002c0004a0002c0006a0005c0003others(9): Show | a0002c0004t0001a0002c0006t0001a0005c0003t0001others(9): Show | a0002c0004t0001g0011a0002c0004t0001g0012a0002c0004t0001g0013others(28): Show | 31 | 116 | 0.2672 | -5 | c.997 others(22): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 60/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84753755 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01069.hp2 others(5): Show |
a0004 | a0004c0007a0004c0008 | a0004c0007t0001a0004c0008t0001 | a0004c0007t0001g0106a0004c0007t0001g0108a0004c0007t0001g0109others(5): Show | 8 | 116 | 0.0690 | -5 | c.105 others(26): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 63/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195740723 | TATAAA | T | intron_variant | MODIFIER | 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 | -5 | c.118 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195792357 | CTAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01928.hp2 others(11): Show |
a0003a0022a0035 | a0003c0004a0003c0025a0003c0068others(2): Show | a0003c0004t0003a0003c0025t0003a0003c0068t0003others(2): Show | a0003c0004t0003g0094a0003c0004t0003g0098a0003c0004t0003g0100others(11): Show | 14 | 256 | 0.0547 | -5 | c.107 others(26): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 57/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195806038 | CTTTAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(32): Show |
a0002a0039 | a0002c0002a0002c0054a0002c0059others(1): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(1): Show | a0002c0002t0001g0119a0002c0002t0001g0120a0002c0002t0001g0121others(32): Show | 35 | 256 | 0.1367 | -5 | c.101 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 54/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195830036 | GTTATT | G | intron_variant | MODIFIER | NA18971.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141a0002c0002t0001g0142 | 2 | 256 | 0.0078 | -5 | c.910 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 48/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195855221 | TATAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01884.hp2 others(15): Show |
a0003a0022a0035others(2): Show | a0003c0004a0003c0025a0003c0068others(4): Show | a0003c0004t0001a0003c0004t0003a0003c0025t0003others(5): Show | a0003c0004t0001g0096a0003c0004t0001g0097a0003c0004t0003g0094others(15): Show | 18 | 256 | 0.0703 | -5 | c.859 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 45/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195871930 | CAAAAA | C | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp2 NA19006.hp1 others(2): Show |
a0001a0002a0039 | a0001c0001a0002c0002a0039c0056 | a0001c0001t0002a0002c0002t0001a0039c0056t0001 | a0001c0001t0002g0177a0002c0002t0001g0135a0002c0002t0001g0143others(2): Show | 5 | 256 | 0.0195 | -5 | c.663 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 40/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195885550 | ATAAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00741.hp2 others(35): Show |
a0005a0006a0007others(4): Show | a0005c0007a0005c0062a0006c0005others(6): Show | a0005c0007t0005a0005c0007t0006a0005c0062t0005others(8): Show | a0005c0007t0005g0246a0005c0007t0006g0241a0005c0007t0006g0244others(35): Show | 38 | 256 | 0.1484 | -5 | c.553 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 34/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195888113 | TTCTAA | T | intron_variant | MODIFIER | HG00621.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178a0001c0001t0002g0185 | 2 | 256 | 0.0078 | -5 | c.540 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 33/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195925900 | TATTAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(35): Show |
a0002a0039a0040 | a0002c0002a0002c0054a0002c0059others(2): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(2): Show | a0002c0002t0001g0119a0002c0002t0001g0120a0002c0002t0001g0121others(35): Show | 38 | 256 | 0.1484 | -5 | c.361 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 22/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195933888 | TTAAAG | T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02895.hp2 others(4): Show |
a0016a0045a0046others(1): Show | a0016c0013a0045c0028a0046c0030others(1): Show | a0016c0013t0003a0045c0028t0001a0046c0030t0011others(1): Show | a0016c0013t0003g0017a0016c0013t0003g0018a0016c0013t0003g0019others(4): Show | 7 | 256 | 0.0273 | -5 | c.347 others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 21/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195979645 | TAAAGG | T | intron_variant | MODIFIER | HG03098.hp2 NA18962.hp1 NA18977.hp2 |
a0001a0044 | a0001c0006a0044c0031 | a0001c0006t0001a0044c0031t0001 | a0001c0006t0001g0057a0001c0006t0001g0058a0044c0031t0001g0016 | 3 | 256 | 0.0117 | -5 | c.183 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715955 | TATATA | T | intron_variant | MODIFIER | HG00733.hp1 HG01978.hp2 HG02698.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0040a0001c0101a0002c0004others(3): Show | a0001c0040t0002a0001c0101t0001a0002c0004t0001others(3): Show | a0001c0040t0002g0133a0001c0101t0001g0132a0002c0004t0001g0134others(3): Show | 6 | 284 | 0.0211 | -5 | c.-35 others(20): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715956 | ATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG01071.hp2 HG02040.hp2 others(11): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0007a0003c0017others(7): Show | a0001c0001t0001a0001c0007t0002a0003c0017t0001others(7): Show | a0001c0001t0001g0107a0001c0001t0001g0149a0001c0007t0002g0103others(11): Show | 14 | 284 | 0.0493 | -5 | c.-35 others(20): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38733939 | AGATGC | A | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001a0011a0016others(6): Show | a0001c0001a0001c0038a0011c0042others(7): Show | a0001c0001t0001a0001c0038t0001a0011c0042t0001others(7): Show | a0001c0001t0001g0242a0001c0038t0001g0258a0011c0042t0001g0222others(9): Show | 12 | 284 | 0.0423 | -5 | c.611 others(20): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 4/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38816062 | GTTTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(162): Show |
a0001a0002a0003others(56): Show | a0001c0035a0001c0097a0001c0105others(93): Show | a0001c0035t0001a0001c0097t0001a0001c0105t0001others(95): Show | a0001c0035t0001g0166a0001c0035t0001g0171a0001c0097t0001g0252others(162): Show | 165 | 284 | 0.5810 | -5 | c.352 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTT | C | intron_variant | MODIFIER | HG03453.hp2 HG03669.hp2 HG04228.hp2 others(7): Show |
a0005a0006a0016 | a0005c0003a0005c0024a0005c0106others(3): Show | a0005c0003t0002a0005c0024t0001a0005c0024t0002others(4): Show | a0005c0003t0002g0042a0005c0003t0002g0068a0005c0003t0002g0101others(7): Show | 10 | 284 | 0.0352 | -5 | c.408 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874027 | TTTTTC | T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00639.hp1 others(30): Show |
a0003a0004a0006others(14): Show | a0003c0002a0003c0017a0004c0006others(23): Show | a0003c0002t0001a0003c0017t0001a0004c0006t0001others(23): Show | a0003c0002t0001g0090a0003c0002t0001g0140a0003c0002t0001g0185others(30): Show | 33 | 284 | 0.1162 | -5 | c.762 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874116 | CCTCCT | C | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG02135.hp1 others(11): Show |
a0001a0003a0005others(5): Show | a0001c0040a0001c0105a0003c0002others(9): Show | a0001c0040t0001a0001c0105t0001a0003c0002t0001others(9): Show | a0001c0040t0001g0253a0001c0105t0001g0135a0003c0002t0001g0017others(11): Show | 14 | 284 | 0.0493 | -5 | c.762 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38874273 | TCCCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(108): Show |
a0001a0003a0004others(39): Show | a0001c0007a0001c0036a0001c0040others(61): Show | a0001c0007t0002a0001c0036t0001a0001c0040t0001others(64): Show | a0001c0007t0002g0259a0001c0036t0001g0070a0001c0040t0001g0253others(108): Show | 111 | 284 | 0.3909 | -5 | c.762 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874308 | CCCCTT | C | intron_variant | MODIFIER | HG02559.hp1 NA18968.hp2 NA18979.hp2 |
a0009a0050 | a0009c0052a0009c0056a0050c0128 | a0009c0052t0001a0009c0056t0001a0050c0128t0001 | a0009c0052t0001g0004a0009c0056t0001g0083a0050c0128t0001g0232 | 3 | 284 | 0.0106 | -5 | c.762 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38925286 | ATTATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(42): Show |
a0001a0002a0003others(16): Show | a0001c0031a0001c0035a0001c0036others(24): Show | a0001c0031t0001a0001c0035t0001a0001c0036t0001others(25): Show | a0001c0031t0001g0084a0001c0031t0001g0085a0001c0035t0001g0171others(42): Show | 45 | 284 | 0.1585 | -5 | c.109 others(24): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 73/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38965065 | AAAAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp2 others(65): Show |
a0001a0002a0003others(18): Show | a0001c0007a0001c0035a0001c0038others(30): Show | a0001c0007t0001a0001c0035t0001a0001c0038t0001others(34): Show | a0001c0007t0001g0073a0001c0035t0001g0166a0001c0038t0001g0037others(65): Show | 68 | 284 | 0.2394 | -5 | c.124 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38994062 | ACAGAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(91): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0031a0001c0101others(41): Show | a0001c0001t0001a0001c0031t0001a0001c0101t0001others(41): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0092others(91): Show | 94 | 284 | 0.3310 | -5 | c.132 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 88/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11606629 | TAGTAG | T | intron_variant | MODIFIER | HG02976.hp2 HG03453.hp1 |
a0045a0055 | a0045c0020a0055c0073 | a0045c0020t0001a0055c0073t0001 | a0045c0020t0001g0005a0055c0073t0001g0016 | 2 | 178 | 0.0112 | -5 | c.418 others(22): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11661050 | TGTTAA | T | intron_variant | MODIFIER | HG00438.hp1 HG01169.hp2 HG01934.hp1 others(6): Show |
a0001a0003a0006others(4): Show | a0001c0082a0003c0134a0003c0135others(6): Show | a0001c0082t0001a0003c0134t0001a0003c0135t0003others(6): Show | a0001c0082t0001g0104a0003c0134t0001g0080a0003c0135t0003g0020others(6): Show | 9 | 178 | 0.0506 | -5 | c.259 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694720 | CTCTCT | C | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 HG03453.hp1 others(1): Show |
a0019a0032a0045others(1): Show | a0019c0017a0032c0089a0045c0020others(1): Show | a0019c0017t0001a0032c0089t0001a0045c0020t0001others(1): Show | a0019c0017t0001g0009a0032c0089t0001g0094a0045c0020t0001g0005others(1): Show | 4 | 178 | 0.0225 | -5 | c.487 others(22): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11711903 | TATTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(31): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0012a0001c0014others(30): Show | a0001c0001t0001a0001c0012t0001a0001c0014t0001others(30): Show | a0001c0001t0001g0124a0001c0012t0001g0035a0001c0014t0001g0143others(31): Show | 34 | 178 | 0.1910 | -5 | c.555 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11759094 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(18): Show |
a0003a0006a0032others(5): Show | a0003c0006a0003c0007a0003c0013others(15): Show | a0003c0006t0001a0003c0007t0001a0003c0013t0001others(15): Show | a0003c0006t0001g0042a0003c0006t0001g0122a0003c0007t0001g0115others(18): Show | 21 | 178 | 0.1180 | -5 | c.699 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 35/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11779974 | CAAGAG | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0044a0067 | a0044c0041a0067c0094 | a0044c0041t0001a0067c0094t0001 | a0044c0041t0001g0041a0067c0094t0001g0063 | 2 | 178 | 0.0112 | -5 | c.755 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 38/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11811989 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp2 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0129a0002c0015a0003c0006others(7): Show | a0001c0129t0001a0002c0015t0001a0003c0006t0001others(7): Show | a0001c0129t0001g0112a0002c0015t0001g0149a0003c0006t0001g0122others(7): Show | 10 | 178 | 0.0562 | -5 | c.870 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11918205 | TTTTTG | T | intron_variant | MODIFIER | HG01258.hp2 HG02257.hp1 HG02622.hp1 others(1): Show |
a0005a0062a0072others(1): Show | a0005c0097a0062c0063a0072c0088others(1): Show | a0005c0097t0001a0062c0063t0001a0072c0088t0001others(1): Show | a0005c0097t0001g0153a0062c0063t0001g0118a0072c0088t0001g0165others(1): Show | 4 | 178 | 0.0225 | -5 | c.117 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 61/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11926035 | GAAAAA | G | intron_variant | MODIFIER | HG02040.hp1 HG02559.hp1 HG03139.hp1 others(2): Show |
a0001a0009a0015others(1): Show | a0001c0001a0001c0002a0009c0018others(2): Show | a0001c0001t0001a0001c0002t0001a0009c0018t0001others(2): Show | a0001c0001t0001g0028a0001c0002t0001g0129a0009c0018t0001g0004others(2): Show | 5 | 178 | 0.0281 | -5 | c.118 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11947535 | ATAGTC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(48): Show |
a0002a0004a0005others(20): Show | a0002c0114a0004c0042a0004c0043others(45): Show | a0002c0114t0001a0004c0042t0001a0004c0043t0001others(45): Show | a0002c0114t0001g0031a0004c0042t0001g0040a0004c0043t0001g0140others(48): Show | 51 | 178 | 0.2865 | -5 | c.128 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11972429 | CCTTCT | C | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03471.hp2 others(1): Show |
a0016a0019a0057others(1): Show | a0016c0011a0019c0017a0057c0060others(1): Show | a0016c0011t0001a0019c0017t0001a0057c0060t0001others(1): Show | a0016c0011t0001g0073a0019c0017t0001g0014a0057c0060t0001g0064others(1): Show | 4 | 178 | 0.0225 | -5 | c.*29 others(16): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 2682 | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34468494 | GGTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(18): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0010a0001c0001t0001g0170a0001c0001t0001g0173others(17): Show | 21 | 382 | 0.0550 | -5 | c.48+ others(20): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34477920 | CTCTCT | C | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01099.hp1 others(26): Show |
a0002a0008 | a0002c0002a0008c0021 | a0002c0002t0001a0008c0021t0001 | a0002c0002t0001g0018a0002c0002t0001g0019a0002c0002t0001g0021others(23): Show | 29 | 382 | 0.0759 | -5 | c.49- others(20): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34477922 | CTCTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01070.hp1 others(19): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0007a0001c0011others(3): Show | a0001c0001t0001a0001c0007t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0229a0001c0007t0001g0044a0001c0007t0001g0045others(17): Show | 22 | 382 | 0.0576 | -5 | c.49- others(20): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74294155 | ATTAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00609.hp1 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0196a0001c0002t0001g0093a0001c0002t0001g0145others(69): Show | 73 | 398 | 0.1834 | -5 | c.724 others(22): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66892945 | AAAGAG | A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp2 NA19240.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0200a0002c0002t0001g0180a0002c0002t0001g0181others(1): Show | 4 | 264 | 0.0152 | -5 | c.530 others(20): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar |