Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(16): Show AAAAGAAAGAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG02129.hp1 others(8): Show HG01081.hp1 HG01433.hp2 HG02129.hp1 HG02647.hp1 HG02647.hp2 NA18948.hp1 NA18966.hp1 NA19055.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0003 a0009c0023 a0010c0022 a0001c0003 a0009c0023 a0010c0022	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(2): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0009c0023t0005 a0010c0022t0005	a0001c0003t0004g0014 a0001c0003t0004g0030 a0001c0003t0004g0051 others(8): Show a0001c0003t0004g0014 a0001c0003t0004g0030 a0001c0003t0004g0051 a0001c0003t0005g0015 a0001c0003t0005g0330 a0001c0003t0005g0332 a0001c0003t0005g0336 a0001c0003t0005g0338 a0001c0003t0009g0061 a0009c0023t0005g0327 a0010c0022t0005g0016	11	53	0.2075	23	c.167 others(42): Show c.1678+4699_1678+4700insCTTTCTTTCTTTTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH11_chr7_21538039_21906839	21789777	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0160 a0009c0160	a0009c0160t0003 a0009c0160t0003	a0009c0160t0003g0009 a0009c0160t0003g0009	1	296	0.0034	23	c.100 others(42): Show c.10026+436_10026+458dupTTTCTTTCTTTCTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789781	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0013 a0013	a0013c0271 a0013c0271	a0013c0271t0002 a0013c0271t0002	a0013c0271t0002g0153 a0013c0271t0002g0153	1	296	0.0034	23	c.100 others(42): Show c.10026+440_10026+462dupTTTCTTTCTTTCTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21906118	G G	GTGTGATC others(16): Show GTGTGATCTCAGGAGCGCTGCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0206 a0206	a0206c0153 a0206c0153	a0206c0153t0003 a0206c0153t0003	a0206c0153t0003g0077 a0206c0153t0003g0077	1	296	0.0034	23	c.48 others(34): Show c.4864_*4865insTGTGATCTCAGGAGCGCTGCTTA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding		4280		chr7	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0083 a0008c0008t0002g0083	1	147	0.0068	23	c.997 others(42): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	82	0.0122	23	c.730 others(42): Show c.7305+1447_7305+1448insATATATATATATATATTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0044 a0003c0003t0001g0021 a0003c0003t0001g0044	2	60	0.0333	23	c.133 others(42): Show c.1335+1673_1335+1674insATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225078841	T T	TCTCTCCC others(16): Show TCTCTCCCCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	233	0.0043	23	c.242 others(40): Show c.2425-365_2425-364insTCTCCCCCTCTCTCTCTCTCTCC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0071 a0071	a0071c0112 a0071c0112	a0071c0112t0001 a0071c0112t0001	a0071c0112t0001g0076 a0071c0112t0001g0076	1	6	0.1667	23	c.129 others(42): Show c.12916-208_12916-186dupAAAAAAAAAAAAAAAAAAAAAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78433018	G G	GCAGCTTT others(16): Show GCAGCTTTCTTCCCATCCCCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0225 a0001c0008t0001g0225	1	250	0.0040	23	c.122 others(43): Show c.12225+988_12225+1010dupGGAGGGGGATGGGAAGAAAGCTG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00621.hp2 others(6): Show HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01192.hp2 HG02129.hp1 HG03492.hp2 HG03704.hp2 NA18945.hp2 NA18970.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0012 a0023 a0029 a0030	a0001c0001 a0002c0003 a0002c0094 others(6): Show a0001c0001 a0002c0003 a0002c0094 a0002c0179 a0003c0011 a0012c0023 a0023c0033 a0029c0183 a0030c0173	a0001c0001t0001 a0002c0003t0001 a0002c0094t0001 others(6): Show a0001c0001t0001 a0002c0003t0001 a0002c0094t0001 a0002c0179t0001 a0003c0011t0001 a0012c0023t0001 a0023c0033t0001 a0029c0183t0002 a0030c0173t0001	a0001c0001t0001g0058 a0002c0003t0001g0174 a0002c0094t0001g0173 others(6): Show a0001c0001t0001g0058 a0002c0003t0001g0174 a0002c0094t0001g0173 a0002c0179t0001g0152 a0003c0011t0001g0028 a0012c0023t0001g0023 a0023c0033t0001g0194 a0029c0183t0002g0092 a0030c0173t0001g0244	9	57	0.1579	23	c.239 others(40): Show c.2392-826_2392-804dupTTTTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7714166	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0117 a0001c0028t0001g0117	1	311	0.0032	23	c.-46 others(34): Show c.-4648_-4647insGTGTGTGTGTGTGTGTGTGTGTG	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		3577		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7733475	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0003 a0026c0030t0003	a0026c0030t0003g0305 a0026c0030t0003g0305	1	295	0.0034	23	c.628 others(38): Show c.628+180_628+181insTTTTTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	5/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18972.hp2 NA18990.hp2 NA18950.hp2 NA18972.hp2 NA18990.hp2	a0004 a0007 a0004 a0007	a0004c0098 a0007c0008 a0004c0098 a0007c0008	a0004c0098t0001 a0007c0008t0001 a0004c0098t0001 a0007c0008t0001	a0004c0098t0001g0061 a0007c0008t0001g0085 a0007c0008t0001g0097 a0004c0098t0001g0061 a0007c0008t0001g0085 a0007c0008t0001g0097	3	118	0.0254	23	c.563 others(40): Show c.5639-529_5639-528insAAAAAAAAAAATATATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067782	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0063 a0002c0006t0001g0063	1	232	0.0043	23	c.324 others(40): Show c.3244-364_3244-363insCTCTCTCTCTCTCTCTCTCTCTC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13778539	G G	GAGAAAGA others(16): Show GAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0063 a0063	a0063c0037 a0063c0037	a0063c0037t0011 a0063c0037t0011	a0063c0037t0011g0006 a0063c0037t0011g0006	1	186	0.0054	23	c.895 others(42): Show c.8952-1185_8952-1184insTCTTTCTTTCTTTCTTTCTTTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH6_chr2_84511498_84824589	84598188	T T	TTTCTTTC others(16): Show TTTCTTTCTTCTCTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	23	c.286 others(42): Show c.2868+2401_2868+2402insCTTTCTTCTCTCTTTCTTTTCTT	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	18/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01071.hp2 HG01928.hp1 others(6): Show HG00621.hp2 HG01071.hp2 HG01928.hp1 HG01981.hp2 HG03831.hp2 NA18939.hp1 NA19070.hp2 NA19084.hp1 NA20752.hp1	a0001 a0015 a0023 a0001 a0015 a0023	a0001c0001 a0015c0014 a0023c0049 a0001c0001 a0015c0014 a0023c0049	a0001c0001t0002 a0001c0001t0009 a0015c0014t0002 others(1): Show a0001c0001t0002 a0001c0001t0009 a0015c0014t0002 a0023c0049t0002	a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0186 others(6): Show a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0002g0218 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0009g0184 a0015c0014t0002g0231 a0023c0049t0002g0227	9	73	0.1233	23	c.114 others(44): Show c.11433+5470_11433+5492dupAAAAAAAAAAAAAAAAAAAAAAA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195950851	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0105	1	40	0.0250	23	c.307 others(42): Show c.3078+6387_3078+6409dupTTTTTTTTTTTTTTTTTTTTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	19/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0196 a0002c0004t0001g0196	1	101	0.0099	23	c.-35 others(38): Show c.-35+546_-35+547insATATATTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0001 a0016c0034t0001	a0016c0034t0001g0142 a0016c0034t0001g0142	1	101	0.0099	23	c.-35 others(38): Show c.-35+546_-35+547insATTTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38818537	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0067 a0012c0016t0001g0067	1	72	0.0139	23	c.352 others(42): Show c.3523+2896_3523+2897insAAAAAAAAAAAAAAAAAAAAAAA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	26/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	39025192	A A	ATCTGGCA others(16): Show ATCTGGCAAACTCCTATGTAGCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0058 a0058	a0058c0142 a0058c0142	a0058c0142t0001 a0058c0142t0001	a0058c0142t0001g0282 a0058c0142t0001g0282	1	284	0.0035	23	c.137 others(44): Show c.13715-1351_13715-1329dupTGGCAAACTCCTATGTAGCTCTC	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	91/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11812024	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0001 a0001c0099t0001	a0001c0099t0001g0095 a0001c0099t0001g0095	1	146	0.0068	23	c.870 others(42): Show c.8707+1655_8707+1656insTATATATATATATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68			chr17	TogoVar
DNAH9_chr17_11593470_11974748	11930765	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0127 a0001c0127	a0001c0127t0001 a0001c0127t0001	a0001c0127t0001g0052 a0001c0127t0001g0052	1	8	0.1250	23	c.121 others(42): Show c.12105+689_12105+690insAAAAAAAAAAAAAAAAAAAAAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	63/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11960435	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03492.hp1 HG04184.hp1 others(2): Show HG02922.hp1 HG03492.hp1 HG04184.hp1 NA18982.hp2 NA19056.hp1	a0001 a0003 a0017 others(2): Show a0001 a0003 a0017 a0053 a0070	a0001c0107 a0003c0013 a0017c0059 others(2): Show a0001c0107 a0003c0013 a0017c0059 a0053c0148 a0070c0118	a0001c0107t0001 a0003c0013t0001 a0017c0059t0001 others(2): Show a0001c0107t0001 a0003c0013t0001 a0017c0059t0001 a0053c0148t0001 a0070c0118t0001	a0001c0107t0001g0071 a0003c0013t0001g0057 a0017c0059t0001g0049 others(2): Show a0001c0107t0001g0071 a0003c0013t0001g0057 a0017c0059t0001g0049 a0053c0148t0001g0008 a0070c0118t0001g0105	5	65	0.0769	23	c.128 others(44): Show c.12844-1427_12844-1405dupAAAAAAAAAAAAAAAAAAAAAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	67/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG01074.hp2 HG01243.hp2 others(29): Show HG00423.hp2 HG01074.hp2 HG01243.hp2 HG01943.hp1 HG01978.hp1 HG02293.hp1 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG03471.hp2 HG03669.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18953.hp1 NA18955.hp2 NA18967.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(29): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0002g0015 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0250 a0002c0002t0001g0260 a0002c0002t0001g0267 a0002c0002t0001g0301	32	33	0.9697	23	c.189 others(36): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAJC12_chr10_67791669_67843188	67819660	G G	GAGAAGAA others(16): Show GAGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	275	0.0036	23	c.157 others(40): Show c.157+3653_157+3654insTTCTTTCTTTCTTTCTTTCTTCT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819722	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	381	0.0026	23	c.157 others(40): Show c.157+3591_157+3592insTTTCTTTCTTTCTTTCTTTCTTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0299 a0001c0001t0002g0300	2	48	0.0417	23	c.326 others(40): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01106.hp1 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0052 a0001c0002t0001 a0001c0002t0052	a0001c0002t0001g0095 a0001c0002t0052g0094 a0001c0002t0001g0095 a0001c0002t0052g0094	2	57	0.0351	23	c.108 others(40): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC18_chr5_139405203_139444525	139435705	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp2 HG02257.hp2 others(4): Show HG00673.hp2 HG02015.hp2 HG02257.hp2 HG03139.hp2 NA19001.hp1 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0140 a0001c0001t0004g0143 a0001c0001t0004g0161	7	28	0.2500	23	c.227 others(40): Show c.227+1644_227+1666dupAAAAAAAAAAAAAAAAAAAAAAA	DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding	2/7			chr5	TogoVar
DNAJC1_chr10_21751548_22008730	21790010	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	17	0.0588	23	c.109 others(44): Show c.1098+15947_1098+15969dupTTTTTTTTTTTTTTTTTTTTTTT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG02486.hp2 others(8): Show HG01099.hp1 HG01123.hp1 HG02486.hp2 HG02809.hp2 HG02896.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 NA18747.hp1 NA18997.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0009t0005	a0001c0001t0004g0219 a0001c0001t0005g0197 a0001c0001t0005g0352 others(8): Show a0001c0001t0004g0219 a0001c0001t0005g0197 a0001c0001t0005g0352 a0001c0001t0005g0355 a0001c0001t0009g0208 a0001c0001t0009g0218 a0001c0001t0009g0232 a0001c0001t0011g0184 a0001c0001t0021g0147 a0001c0001t0021g0354 a0001c0009t0005g0105	11	216	0.0509	23	c.83- others(38): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GACAGAGA others(16): Show GACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	233	0.0043	23	c.29 others(34): Show c.2942_*2943insACAGAGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65380911	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	303	0.0033	23	c.666 others(40): Show c.666+1391_666+1392insTTTTTTTTTTTTTTTTTTTTTTT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65380916	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp1 HG01255.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0038 a0002c0002t0011g0126 a0002c0002t0011g0038 a0002c0002t0011g0126	2	116	0.0172	23	c.666 others(40): Show c.666+1396_666+1397insTTTTTTTTTTTTTTTTTTTTTTT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC7_chr17_41971435_42022439	41986047	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19058.hp2 HG00558.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0222 a0001c0001t0001g0184 a0001c0001t0001g0222	2	10	0.2000	23	c.101 others(42): Show c.1010+1749_1010+1771dupTTTTTTTTTTTTTTTTTTTTTTT	DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	9/13			chr17	TogoVar
DNAL1_chr14_73639986_73708732	73681625	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0318 a0001c0001t0016g0203 a0001c0001t0015g0318 a0001c0001t0016g0203	2	256	0.0078	23	c.265 others(40): Show c.265-5634_265-5633insTATATATATATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7			chr14	TogoVar
DNASE1_chr16_3649691_3663095	3653806	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	49	0.0204	23	c.-12 others(34): Show c.-1240_-1239insAAAAAAAAAAAAAAAAAAAAAAA	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding		884		chr16	TogoVar
DNER_chr2_229352629_229719555	229563946	C C	CCCCATCA others(16): Show CCCCATCACCATCATCATCCTCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 NA18906.hp2 HG03130.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0148 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0148	3	174	0.0172	23	c.848 others(42): Show c.848-16877_848-16855dupATGAGGATGATGATGGTGATGGG	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229564594	T T	TCATCATC others(16): Show TCATCATCATCCTCACCACATCAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02630.hp2 HG02717.hp2 others(2): Show HG01261.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0002t0001g0156	5	174	0.0287	23	c.848 others(42): Show c.848-17525_848-17503dupGTGATGTGGTGAGGATGATGATG	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNHD1_chr11_6492280_6577020	6517652	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0001 a0020c0016t0001	a0020c0016t0001g0250 a0020c0016t0001g0250	1	73	0.0137	23	c.139 others(42): Show c.1393-1936_1393-1914dupTTTTTTTTTTTTTTTTTTTTTTT	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
DNM2_chr19_10713079_10836903	10726218	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02735.hp1 HG03688.hp2 HG02135.hp1 HG02735.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0002t0001g0003 a0001c0002t0002g0017 a0001c0001t0001g0016 a0001c0002t0001g0003 a0001c0002t0002g0017	3	261	0.0115	23	c.161 others(40): Show c.161+7827_161+7828insAAAAAAAAAAAAAAAAAAAAAAA	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG03834.hp2 others(1): Show HG00438.hp2 HG01109.hp2 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0021	a0001c0001t0001g0078 a0001c0001t0002g0064 a0001c0001t0003g0098 others(1): Show a0001c0001t0001g0078 a0001c0001t0002g0064 a0001c0001t0003g0098 a0001c0002t0021g0077	4	76	0.0526	23	c.177 others(42): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304222	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0118 a0001c0001t0013g0118	1	113	0.0088	23	c.177 others(42): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAAAAC	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20			chr1	TogoVar
DNM3_chr1_171836498_172417717	172354142	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	125	0.0080	23	c.189 others(44): Show c.1894-24876_1894-24875insGAGAGAGAGAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20			chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG01884.hp1 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0021 a0001c0006t0004 a0001c0006t0021	a0001c0006t0004g0242 a0001c0006t0021g0166 a0001c0006t0004g0242 a0001c0006t0021g0166	2	240	0.0083	23	c.454 others(40): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99883638	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	93	0.0108	23	c.399 others(40): Show c.3997+350_3997+372dupTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	15/16			chr10	TogoVar
DNTTIP2_chr1_93861284_93884206	93863090	T T	TTATTCTT others(16): Show TTATTCTTCCATCCTCAAAATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0044 a0001c0006t0024g0044	1	372	0.0027	23	c.67 others(34): Show c.6760_*6761insTGCATTTTGAGGATGGAAGAATA	DNTTIP2	ENSG00000067334.14	transcript	ENST00000436063.7	protein_coding		3193		chr1	TogoVar

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