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 | 13713434 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0105 | a0105c0064 | a0105c0064t0001 | a0105c0064t0001g0021 | 1 | 252 | 0.0040 | 14 | c.131 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04115.hp1 NA19002.hp1 others(1): Show |
a0002a0010a0027others(1): Show | a0002c0175a0010c0002a0027c0145others(1): Show | a0002c0175t0001a0010c0002t0002a0027c0145t0002others(1): Show | a0002c0175t0001g0173a0010c0002t0002g0211a0027c0145t0002g0168others(1): Show | 4 | 252 | 0.0159 | 14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02258.hp2 HG02559.hp2 others(5): Show |
a0006a0012a0013others(5): Show | a0006c0093a0012c0084a0013c0117others(5): Show | a0006c0093t0002a0012c0084t0001a0013c0117t0001others(5): Show | a0006c0093t0002g0049a0012c0084t0001g0059a0013c0117t0001g0105others(5): Show | 8 | 252 | 0.0318 | 14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0018 | a0018c0090 | a0018c0090t0001 | a0018c0090t0001g0068 | 1 | 252 | 0.0040 | 14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778598 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18612.hp1 NA18956.hp1 others(3): Show |
a0006a0029a0062others(2): Show | a0006c0003a0029c0027a0062c0125others(2): Show | a0006c0003t0002a0029c0027t0004a0062c0125t0004others(2): Show | a0006c0003t0002g0040a0006c0003t0002g0083a0029c0027t0004g0242others(3): Show | 6 | 252 | 0.0238 | 14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842429 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 |
a0130a0141 | a0130c0141a0141c0192 | a0130c0141t0002a0141c0192t0001 | a0130c0141t0002g0134a0141c0192t0001g0026 | 2 | 252 | 0.0079 | 14 | c.527 others(31): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01168.hp1 others(16): Show |
a0006a0014a0017others(14): Show | a0006c0041a0014c0166a0017c0008others(14): Show | a0006c0041t0002a0014c0166t0002a0017c0008t0002others(14): Show | a0006c0041t0002g0038a0014c0166t0002g0117a0017c0008t0002g0215others(16): Show | 19 | 252 | 0.0754 | 14 | c.527 others(31): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG02165.hp1 others(2): Show |
a0006a0016a0021others(2): Show | a0006c0093a0016c0200a0021c0092others(2): Show | a0006c0093t0002a0016c0200t0016a0021c0092t0001others(2): Show | a0006c0093t0002g0049a0016c0200t0016g0217a0021c0092t0001g0106others(2): Show | 5 | 252 | 0.0198 | 14 | c.459 others(31): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01243.hp2 others(14): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0015a0001c0024others(8): Show | a0001c0001t0001a0001c0015t0001a0001c0024t0001others(8): Show | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0056others(14): Show | 17 | 116 | 0.1466 | 14 | c.-17 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02486.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0052a0001c0001t0001g0058a0001c0020t0001g0031 | 3 | 116 | 0.0259 | 14 | c.160 others(29): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84580316 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0031 | 1 | 116 | 0.0086 | 14 | c.222 others(31): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195740650 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0114 | 1 | 256 | 0.0039 | 14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198a0001c0001t0002g0214 | 2 | 256 | 0.0078 | 14 | c.114 others(35): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778618 | G | GGAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0246 | 1 | 256 | 0.0039 | 14 | c.108 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778643 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0064 | 1 | 256 | 0.0039 | 14 | c.108 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778661 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18964.hp1 NA18965.hp1 |
a0003 | a0003c0004a0003c0025 | a0003c0004t0003a0003c0025t0003 | a0003c0004t0003g0105a0003c0025t0003g0099a0003c0025t0003g0101 | 3 | 256 | 0.0117 | 14 | c.108 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195781976 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG04184.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181a0001c0001t0002g0212 | 2 | 256 | 0.0078 | 14 | c.108 others(35): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195846949 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01891.hp1 others(5): Show |
a0006a0007 | a0006c0005a0007c0008 | a0006c0005t0001a0006c0005t0007a0007c0008t0001 | a0006c0005t0001g0006a0006c0005t0001g0007a0006c0005t0001g0013others(5): Show | 8 | 256 | 0.0313 | 14 | c.878 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195906410 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(5): Show |
a0013a0018a0049 | a0013c0016a0018c0018a0049c0026 | a0013c0016t0001a0018c0018t0001a0049c0026t0001 | a0013c0016t0001g0031a0013c0016t0001g0034a0013c0016t0001g0035others(5): Show | 8 | 256 | 0.0313 | 14 | c.433 others(31): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 27/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195921352 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 256 | 0.0039 | 14 | c.393 others(31): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 24/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01975.hp2 others(16): Show |
a0001a0009a0010others(5): Show | a0001c0001a0001c0006a0001c0047others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(9): Show | a0001c0001t0001g0187a0001c0001t0001g0206a0001c0001t0001g0209others(16): Show | 19 | 256 | 0.0742 | 14 | c.183 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715927 | T | TAAATAAA others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18979.hp2 |
a0009a0015 | a0009c0052a0015c0034 | a0009c0052t0001a0015c0034t0001 | a0009c0052t0001g0004a0015c0034t0001g0174 | 2 | 284 | 0.0070 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715958 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0011 | a0011c0042 | a0011c0042t0001 | a0011c0042t0001g0222 | 1 | 284 | 0.0035 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0025 | a0025c0091 | a0025c0091t0001 | a0025c0091t0001g0156 | 1 | 284 | 0.0035 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19043.hp2 |
a0012a0028 | a0012c0126a0028c0027 | a0012c0126t0001a0028c0027t0001 | a0012c0126t0001g0208a0028c0027t0001g0207 | 2 | 284 | 0.0070 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATTTTT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0066 | 1 | 284 | 0.0035 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0052 | a0052c0100 | a0052c0100t0001 | a0052c0100t0001g0175 | 1 | 284 | 0.0035 | 14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38725337 | A | AATAATAA others(7): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0101 | a0001c0001t0001a0001c0101t0001 | a0001c0001t0001g0107a0001c0101t0001g0132 | 2 | 284 | 0.0070 | 14 | c.525 others(31): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 3/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38743007 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0127 | a0008c0127t0001 | a0008c0127t0001g0152 | 1 | 284 | 0.0035 | 14 | c.129 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 8/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38772971 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0062 | 1 | 284 | 0.0035 | 14 | c.176 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02148.hp2 |
a0004 | a0004c0006a0004c0015 | a0004c0006t0001a0004c0015t0001 | a0004c0006t0001g0039a0004c0015t0001g0033 | 2 | 284 | 0.0070 | 14 | c.352 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp1 others(5): Show |
a0004a0006a0009others(3): Show | a0004c0006a0006c0005a0006c0029others(4): Show | a0004c0006t0001a0006c0005t0001a0006c0029t0001others(4): Show | a0004c0006t0001g0192a0006c0005t0001g0044a0006c0005t0001g0202others(5): Show | 8 | 284 | 0.0282 | 14 | c.408 others(31): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932183 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01192.hp2 others(37): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0035a0001c0101others(28): Show | a0001c0001t0001a0001c0035t0001a0001c0101t0001others(29): Show | a0001c0001t0001g0149a0001c0035t0001g0166a0001c0101t0001g0132others(37): Show | 40 | 284 | 0.1409 | 14 | c.114 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932216 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02280.hp1 HG02615.hp2 others(10): Show |
a0001a0012a0015others(4): Show | a0001c0007a0001c0038a0001c0040others(9): Show | a0001c0007t0001a0001c0038t0001a0001c0040t0001others(9): Show | a0001c0007t0001g0073a0001c0038t0001g0258a0001c0040t0001g0253others(10): Show | 13 | 284 | 0.0458 | 14 | c.114 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654355 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 |
a0007a0028 | a0007c0023a0028c0038 | a0007c0023t0001a0028c0038t0001 | a0007c0023t0001g0018a0028c0038t0001g0072 | 2 | 178 | 0.0112 | 14 | c.259 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843859 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01261.hp1 others(4): Show |
a0001a0003a0010others(3): Show | a0001c0014a0001c0122a0003c0104others(4): Show | a0001c0014t0001a0001c0122t0001a0003c0104t0001others(4): Show | a0001c0014t0001g0143a0001c0122t0001g0054a0003c0104t0001g0107others(4): Show | 7 | 178 | 0.0393 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843861 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 HG03195.hp1 |
a0014a0048a0055 | a0014c0074a0048c0052a0055c0073 | a0014c0074t0001a0048c0052t0001a0055c0073t0001 | a0014c0074t0001g0084a0048c0052t0001g0141a0055c0073t0001g0016 | 3 | 178 | 0.0169 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0065 | a0065c0067 | a0065c0067t0001 | a0065c0067t0001g0038 | 1 | 178 | 0.0056 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18522.hp1 |
a0001a0020 | a0001c0082a0020c0026 | a0001c0082t0001a0020c0026t0001 | a0001c0082t0001g0104a0020c0026t0001g0164 | 2 | 178 | 0.0112 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0099 | a0001c0099t0001 | a0001c0099t0001g0095 | 1 | 178 | 0.0056 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843890 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0026 | a0026c0095 | a0026c0095t0001 | a0026c0095t0001g0044 | 1 | 178 | 0.0056 | 14 | c.950 others(33): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00621.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0099others(3): Show | a0001c0001t0001a0001c0012t0001a0001c0099t0001others(3): Show | a0001c0001t0001g0139a0001c0012t0001g0035a0001c0099t0001g0095others(3): Show | 6 | 178 | 0.0337 | 14 | c.118 others(35): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11952309 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0079 | a0079c0145 | a0079c0145t0001 | a0079c0145t0001g0013 | 1 | 178 | 0.0056 | 14 | c.128 others(35): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02559.hp1 |
a0003a0051 | a0003c0013a0051c0019 | a0003c0013t0001a0051c0019t0001 | a0003c0013t0001g0033a0051c0019t0001g0001 | 2 | 178 | 0.0112 | 14 | c.128 others(35): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GAGATATA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0030others(5): Show | 8 | 382 | 0.0209 | 14 | c.682 others(29): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0004a0001c0001t0001g0050a0001c0001t0001g0066others(32): Show | 38 | 382 | 0.0995 | 14 | c.682 others(29): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85084277 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp1 NA18980.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0108a0001c0001t0001g0130a0001c0001t0001g0143others(1): Show | 4 | 374 | 0.0107 | 14 | c.391 others(29): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85092794 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | NA18973.hp1 NA19062.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0047 | 2 | 374 | 0.0054 | 14 | c.858 others(29): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66831752 | T | TGTACTGG others(7): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0133 | 1 | 264 | 0.0038 | 14 | c.201 others(33): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 13/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66836206 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19083.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0164a0003c0005t0001g0230 | 2 | 264 | 0.0076 | 14 | c.158 others(31): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar |