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
MAJIN_chr11_64933230_64977108	64948639	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02723.hp1 HG01978.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0066 a0001c0001t0001g0078	2	384	0.0052	15	c.350 others(30): Show c.350-821_350-820insATATATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948639	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	384	0.0026	15	c.350 others(30): Show c.350-821_350-820insAAAAAAAAATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948640	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18957.hp2 HG00558.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0249 a0001c0001t0001g0091 a0001c0001t0001g0249	2	384	0.0052	15	c.350 others(30): Show c.350-822_350-821insTATATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK_chr6_10757723_10843539	10765440	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0230 a0001c0001t0010g0230	1	272	0.0037	15	c.179 others(32): Show c.1793-849_1793-835dupAAAAAAAAAAAAAAA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	14/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10810439	A A	AAGCGATT others(8): Show AAGCGATTCTCCTGCG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	272	0.0037	15	c.359 others(32): Show c.359-1498_359-1497insCGCAGGAGAATCGCT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19065287	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG02818.hp2 others(2): Show HG00741.hp2 HG02622.hp2 HG02818.hp2 HG02976.hp1 HG06807.hp2	a0001 a0033 a0062 others(2): Show a0001 a0033 a0062 a0068 a0087	a0001c0076 a0033c0082 a0062c0114 others(2): Show a0001c0076 a0033c0082 a0062c0114 a0068c0110 a0087c0086	a0001c0076t0002 a0033c0082t0001 a0062c0114t0002 others(2): Show a0001c0076t0002 a0033c0082t0001 a0062c0114t0002 a0068c0110t0002 a0087c0086t0002	a0001c0076t0002g0075 a0033c0082t0001g0144 a0062c0114t0002g0076 others(2): Show a0001c0076t0002g0075 a0033c0082t0001g0144 a0062c0114t0002g0076 a0068c0110t0002g0081 a0087c0086t0002g0074	5	152	0.0329	15	c.200 others(32): Show c.200-1424_200-1410dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19108387	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0091 a0091	a0091c0096 a0091c0096	a0091c0096t0001 a0091c0096t0001	a0091c0096t0001g0004 a0091c0096t0001g0004	1	152	0.0066	15	c.694 others(32): Show c.694+4336_694+4350dupTTTTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	5/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19142171	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0019 a0060 a0019 a0060	a0019c0009 a0060c0055 a0019c0009 a0060c0055	a0019c0009t0002 a0060c0055t0001 a0019c0009t0002 a0060c0055t0001	a0019c0009t0002g0070 a0060c0055t0001g0108 a0019c0009t0002g0070 a0060c0055t0001g0108	2	152	0.0132	15	c.141 others(34): Show c.1412-4015_1412-4001dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	10/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19163137	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02074.hp1 HG02622.hp2 others(1): Show HG00741.hp1 HG02074.hp1 HG02622.hp2 NA19030.hp2	a0001 a0032 a0062 others(1): Show a0001 a0032 a0062 a0092	a0001c0001 a0032c0037 a0062c0114 others(1): Show a0001c0001 a0032c0037 a0062c0114 a0092c0089	a0001c0001t0001 a0032c0037t0001 a0062c0114t0002 others(1): Show a0001c0001t0001 a0032c0037t0001 a0062c0114t0002 a0092c0089t0001	a0001c0001t0001g0057 a0032c0037t0001g0121 a0062c0114t0002g0076 others(1): Show a0001c0001t0001g0057 a0032c0037t0001g0121 a0062c0114t0002g0076 a0092c0089t0001g0011	4	152	0.0263	15	c.165 others(34): Show c.1657-2486_1657-2472dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165266	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0076 a0076	a0076c0047 a0076c0047	a0076c0047t0001 a0076c0047t0001	a0076c0047t0001g0002 a0076c0047t0001g0002	1	152	0.0066	15	c.165 others(32): Show c.1657-371_1657-370insATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19199813	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0072 a0072	a0072c0088 a0072c0088	a0072c0088t0001 a0072c0088t0001	a0072c0088t0001g0013 a0072c0088t0001g0013	1	152	0.0066	15	c.195 others(34): Show c.1952-3899_1952-3885dupAAATAAAATAAAATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19200661	T T	TTTTTGTT others(8): Show TTTTTGTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0019 a0019	a0019c0009 a0019c0009	a0019c0009t0002 a0019c0009t0002	a0019c0009t0002g0091 a0019c0009t0002g0091	1	152	0.0066	15	c.195 others(34): Show c.1952-3063_1952-3062insGTTTGTTTTTGTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19200661	T T	TTTTTTTT others(8): Show TTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0040 a0009c0040	a0009c0040t0002 a0009c0040t0002	a0009c0040t0002g0067 a0009c0040t0002g0067	1	152	0.0066	15	c.195 others(34): Show c.1952-3059_1952-3058insGTTTTTGTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315131	G G	GAAATATA others(8): Show GAAATATAATTTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0078 a0078	a0078c0045 a0078c0045	a0078c0045t0001 a0078c0045t0001	a0078c0045t0001g0014 a0078c0045t0001g0014	1	152	0.0066	15	c.342 others(34): Show c.3420-8812_3420-8811insAATTTATATAAATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315161	G G	GTAAATAT others(8): Show GTAAATATAATTTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0063 a0063	a0063c0069 a0063c0069	a0063c0069t0002 a0063c0069t0002	a0063c0069t0002g0089 a0063c0069t0002g0089	1	152	0.0066	15	c.342 others(34): Show c.3420-8779_3420-8765dupATTTATATAAATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315162	T T	TAAATATA others(8): Show TAAATATAATTTATAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG01884.hp2 HG02486.hp1	a0042 a0053 a0042 a0053	a0042c0049 a0053c0021 a0042c0049 a0053c0021	a0042c0049t0001 a0053c0021t0002 a0042c0049t0001 a0053c0021t0002	a0042c0049t0001g0022 a0053c0021t0002g0092 a0042c0049t0001g0022 a0053c0021t0002g0092	2	152	0.0132	15	c.342 others(34): Show c.3420-8773_3420-8772insGAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00642.hp2 HG01070.hp1 HG01071.hp1 HG02280.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03579.hp2 NA18522.hp1	a0001 a0009 a0013 others(4): Show a0001 a0009 a0013 a0017 a0018 a0020 a0069	a0001c0003 a0009c0040 a0009c0071 others(5): Show a0001c0003 a0009c0040 a0009c0071 a0013c0019 a0017c0017 a0018c0108 a0020c0026 a0069c0095	a0001c0003t0001 a0009c0040t0002 a0009c0071t0001 others(5): Show a0001c0003t0001 a0009c0040t0002 a0009c0071t0001 a0013c0019t0002 a0017c0017t0001 a0018c0108t0002 a0020c0026t0001 a0069c0095t0001	a0001c0003t0001g0056 a0009c0040t0002g0067 a0009c0071t0001g0001 others(6): Show a0001c0003t0001g0056 a0009c0040t0002g0067 a0009c0071t0001g0001 a0013c0019t0002g0071 a0013c0019t0002g0072 a0017c0017t0001g0107 a0018c0108t0002g0145 a0020c0026t0001g0055 a0069c0095t0001g0069	9	152	0.0592	15	c.444 others(34): Show c.4441+3561_4441+3562insATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19373203	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20905.hp2 NA20805.hp1 NA20905.hp2	a0094 a0095 a0094 a0095	a0094c0101 a0095c0033 a0094c0101 a0095c0033	a0094c0101t0001 a0095c0033t0001 a0094c0101t0001 a0095c0033t0001	a0094c0101t0001g0113 a0095c0033t0001g0103 a0094c0101t0001g0113 a0095c0033t0001g0103	2	152	0.0132	15	c.444 others(36): Show c.4442-14322_4442-14308dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18971.hp2 NA18988.hp2 HG00741.hp2 NA18971.hp2 NA18988.hp2	a0003 a0033 a0090 a0003 a0033 a0090	a0003c0028 a0033c0082 a0090c0100 a0003c0028 a0033c0082 a0090c0100	a0003c0028t0001 a0033c0082t0001 a0090c0100t0001 a0003c0028t0001 a0033c0082t0001 a0090c0100t0001	a0003c0028t0001g0101 a0033c0082t0001g0144 a0090c0100t0001g0143 a0003c0028t0001g0101 a0033c0082t0001g0144 a0090c0100t0001g0143	3	152	0.0197	15	c.547 others(36): Show c.5478+16468_5478+16469insATATATATATATATT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547819	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03710.hp2 NA18964.hp2 others(1): Show HG02074.hp1 HG03710.hp2 NA18964.hp2 NA20752.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0027 a0010c0018 others(1): Show a0001c0001 a0003c0027 a0010c0018 a0010c0029	a0001c0001t0001 a0003c0027t0001 a0010c0018t0001 others(1): Show a0001c0001t0001 a0003c0027t0001 a0010c0018t0001 a0010c0029t0001	a0001c0001t0001g0057 a0003c0027t0001g0060 a0010c0018t0001g0028 others(1): Show a0001c0001t0001g0057 a0003c0027t0001g0060 a0010c0018t0001g0028 a0010c0029t0001g0097	4	152	0.0263	15	c.547 others(36): Show c.5478+16468_5478+16469insATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19615516	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02615.hp2 HG02897.hp1 others(6): Show HG00558.hp2 HG02615.hp2 HG02897.hp1 HG03098.hp1 HG03579.hp2 NA18957.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0004 a0018 a0020 others(3): Show a0004 a0018 a0020 a0024 a0072 a0093	a0004c0005 a0018c0038 a0018c0108 others(5): Show a0004c0005 a0018c0038 a0018c0108 a0020c0026 a0020c0072 a0024c0067 a0072c0088 a0093c0031	a0004c0005t0001 a0018c0038t0001 a0018c0108t0002 others(5): Show a0004c0005t0001 a0018c0038t0001 a0018c0108t0002 a0020c0026t0001 a0020c0072t0002 a0024c0067t0001 a0072c0088t0001 a0093c0031t0001	a0004c0005t0001g0033 a0004c0005t0001g0094 a0018c0038t0001g0120 others(6): Show a0004c0005t0001g0033 a0004c0005t0001g0094 a0018c0038t0001g0120 a0018c0108t0002g0145 a0020c0026t0001g0055 a0020c0072t0002g0082 a0024c0067t0001g0003 a0072c0088t0001g0013 a0093c0031t0001g0136	9	152	0.0592	15	c.607 others(32): Show c.6071-336_6071-322dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	35/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19687910	A A	AATGTTAT others(8): Show AATGTTATGTTATGTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18988.hp2 NA18998.hp2 NA18947.hp1 NA18988.hp2 NA18998.hp2	a0089 a0090 a0091 a0089 a0090 a0091	a0089c0119 a0090c0100 a0091c0096 a0089c0119 a0090c0100 a0091c0096	a0089c0119t0001 a0090c0100t0001 a0091c0096t0001 a0089c0119t0001 a0090c0100t0001 a0091c0096t0001	a0089c0119t0001g0010 a0090c0100t0001g0143 a0091c0096t0001g0004 a0089c0119t0001g0010 a0090c0100t0001g0143 a0091c0096t0001g0004	3	152	0.0197	15	c.613 others(34): Show c.6138-4314_6138-4300dupGTTATGTTATGTTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19699203	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18960.hp1 HG03139.hp2 NA18960.hp1	a0026 a0076 a0026 a0076	a0026c0097 a0076c0047 a0026c0097 a0076c0047	a0026c0097t0001 a0076c0047t0001 a0026c0097t0001 a0076c0047t0001	a0026c0097t0001g0104 a0076c0047t0001g0002 a0026c0097t0001g0104 a0076c0047t0001g0002	2	152	0.0132	15	c.631 others(34): Show c.6314+6660_6314+6674dupTAATAATAATAATAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19705804	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02897.hp1 HG02976.hp1 others(5): Show HG02602.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2	a0001 a0019 a0020 others(4): Show a0001 a0019 a0020 a0058 a0079 a0092 a0093	a0001c0076 a0019c0009 a0020c0026 others(5): Show a0001c0076 a0019c0009 a0020c0026 a0020c0072 a0058c0080 a0079c0064 a0092c0089 a0093c0031	a0001c0076t0002 a0019c0009t0002 a0020c0026t0001 others(5): Show a0001c0076t0002 a0019c0009t0002 a0020c0026t0001 a0020c0072t0002 a0058c0080t0001 a0079c0064t0001 a0092c0089t0001 a0093c0031t0001	a0001c0076t0002g0075 a0019c0009t0002g0091 a0020c0026t0001g0055 others(5): Show a0001c0076t0002g0075 a0019c0009t0002g0091 a0020c0026t0001g0055 a0020c0072t0002g0082 a0058c0080t0001g0058 a0079c0064t0001g0152 a0092c0089t0001g0011 a0093c0031t0001g0136	8	152	0.0526	15	c.631 others(36): Show c.6314+13264_6314+13265insAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19705804	T T	TGAAAAAA others(8): Show TGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0019 a0019	a0019c0009 a0019c0009	a0019c0009t0002 a0019c0009t0002	a0019c0009t0002g0070 a0019c0009t0002g0070	1	152	0.0066	15	c.631 others(36): Show c.6314+13250_6314+13251insGAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19722590	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03486.hp1 HG01071.hp1 HG03486.hp1	a0013 a0080 a0013 a0080	a0013c0019 a0080c0043 a0013c0019 a0080c0043	a0013c0019t0002 a0080c0043t0002 a0013c0019t0002 a0080c0043t0002	a0013c0019t0002g0072 a0080c0043t0002g0148 a0013c0019t0002g0072 a0080c0043t0002g0148	2	152	0.0132	15	c.631 others(34): Show c.6315-8101_6315-8087dupAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58692407	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0053 a0002c0003t0004g0053	1	406	0.0025	15	c.377 others(32): Show c.377-3959_377-3958insTCTCTCTCTCTCTCT	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16			chr18	TogoVar
MALT1_chr18_58666465_58759477	58692452	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19064.hp2 NA18971.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0036 a0001c0001t0014g0050 a0001c0001t0004g0036 a0001c0001t0014g0050	2	406	0.0049	15	c.377 others(32): Show c.377-3914_377-3913insTCTCTCTCTCTCTCT	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16			chr18	TogoVar
MAML1_chr5_179727822_179782283	179752342	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp2 NA18942.hp2 others(3): Show HG00621.hp2 NA18747.hp2 NA18942.hp2 NA18951.hp1 NA18997.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0310 a0001c0001t0001g0311	6	360	0.0167	15	c.316 others(34): Show c.316-12984_316-12983insTATATATATATATAT	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/4			chr5	TogoVar
MAML1_chr5_179727822_179782283	179752344	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18987.hp2 NA18959.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	360	0.0056	15	c.316 others(34): Show c.316-12982_316-12981insTATATATATATATAT	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/4			chr5	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02559.hp1 others(9): Show HG01109.hp2 HG02258.hp2 HG02559.hp1 HG02647.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG04199.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0009	a0001c0001t0004 a0001c0002t0003 a0001c0002t0011 others(8): Show a0001c0001t0004 a0001c0002t0003 a0001c0002t0011 a0002c0003t0001 a0002c0003t0012 a0002c0003t0025 a0003c0005t0004 a0003c0005t0007 a0003c0005t0041 a0003c0005t0048 a0005c0009t0023	a0001c0001t0004g0184 a0001c0002t0003g0173 a0001c0002t0011g0223 others(9): Show a0001c0001t0004g0184 a0001c0002t0003g0173 a0001c0002t0011g0223 a0002c0003t0001g0170 a0002c0003t0012g0189 a0002c0003t0025g0069 a0003c0005t0004g0156 a0003c0005t0004g0177 a0003c0005t0007g0043 a0003c0005t0041g0096 a0003c0005t0048g0230 a0005c0009t0023g0048	12	230	0.0522	15	c.514 others(34): Show c.514-28278_514-28264dupAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01934.hp1 NA19074.hp1 HG01256.hp1 HG01934.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0021 a0001c0006t0006 a0001c0002t0001 a0001c0002t0021 a0001c0006t0006	a0001c0002t0001g0207 a0001c0002t0021g0226 a0001c0006t0006g0112 a0001c0002t0001g0207 a0001c0002t0021g0226 a0001c0006t0006g0112	3	230	0.0130	15	c.514 others(34): Show c.514-65888_514-65887insAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG06807.hp2 HG02818.hp2 HG03209.hp1 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0002c0003t0033 a0003c0005t0007 a0002c0003t0001 a0002c0003t0033 a0003c0005t0007	a0002c0003t0001g0186 a0002c0003t0033g0193 a0003c0005t0007g0015 a0002c0003t0001g0186 a0002c0003t0033g0193 a0003c0005t0007g0015	3	230	0.0130	15	c.513 others(36): Show c.513+100811_513+100825dupTTTTTTTTTTTTTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299056	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG00323.hp1 HG01256.hp2 HG01258.hp2 HG02080.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 a0001c0002t0043	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0002t0001g0135 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0002t0001g0135 a0001c0002t0027g0002 a0001c0002t0043g0104	5	230	0.0217	15	c.513 others(34): Show c.513+42326_513+42327insATATATATATATATA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299058	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	230	0.0044	15	c.513 others(34): Show c.513+42324_513+42325insATATATATATATATA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96312219	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02735.hp2 NA19084.hp2 HG00438.hp1 HG02735.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0017 a0001c0001t0001 a0001c0002t0002 a0001c0004t0017	a0001c0001t0001g0162 a0001c0002t0002g0041 a0001c0004t0017g0067 a0001c0001t0001g0162 a0001c0002t0002g0041 a0001c0004t0017g0067	3	230	0.0130	15	c.513 others(34): Show c.513+29149_513+29163dupTTTTTTTTTTTTTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139801633	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0122 a0006c0007t0006g0122	1	152	0.0066	15	c.208 others(36): Show c.2080-70967_2080-70966insACACACACACACACA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139814025	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	152	0.0066	15	c.207 others(36): Show c.2079+75331_2079+75332insGTGTGTGTGTGTGTG	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139832094	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0021 a0001c0004 a0003c0021	a0001c0004t0002 a0003c0021t0012 a0001c0004t0002 a0003c0021t0012	a0001c0004t0002g0060 a0003c0021t0012g0071 a0001c0004t0002g0060 a0003c0021t0012g0071	2	152	0.0132	15	c.207 others(36): Show c.2079+57248_2079+57262dupAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139905491	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0075 a0001c0023t0002g0075	1	152	0.0066	15	c.469 others(34): Show c.469-14539_469-14525dupTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140060365	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0035 a0003c0020t0035	a0003c0020t0035g0047 a0003c0020t0035g0047	1	152	0.0066	15	c.468 others(34): Show c.468+92480_468+92494dupTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150394129	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	226	0.0044	15	c.-64 others(34): Show c.-64+30610_-64+30624dupTTTTTTTTTTTTTTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150398252	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	226	0.0044	15	c.-64 others(34): Show c.-64+34798_-64+34812dupAGAAGAAGAAGAAGA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150481968	G G	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01978.hp2 HG01433.hp1 HG01978.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0003 a0003c0003t0001 a0004c0004t0003	a0003c0003t0001g0137 a0004c0004t0003g0098 a0003c0003t0001g0137 a0004c0004t0003g0098	2	226	0.0089	15	c.204 others(34): Show c.2040+8167_2040+8181dupAAAGAAAGAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMSTR_chr19_48707725_48724725	48707888	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	386	0.0026	15	c.53 others(26): Show c.5378_*5379insCTTTCTTTCTTTCTT	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4836		chr19	TogoVar
MAMSTR_chr19_48707725_48724725	48707901	A A	AAGAAAGA others(8): Show AAGAAAGAAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	386	0.0026	15	c.53 others(26): Show c.5365_*5366insCCTTCCTTTCTTTCT	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4823		chr19	TogoVar
MAN1A1_chr6_119172205_119354761	119319381	A A	AATCATCA others(8): Show AATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0105 a0001c0002t0009g0105	1	350	0.0029	15	c.604 others(34): Show c.604-12390_604-12389insGATGATGATGATGAT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	2/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117458523	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0034 a0001c0001t0019g0034	1	370	0.0027	15	c.951 others(32): Show c.951-1965_951-1964insATATTTTTTTTTTTT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117458523	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0032 a0001c0001t0019g0032	1	370	0.0027	15	c.951 others(32): Show c.951-1963_951-1949dupTTTTTTTTTTTTTTT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25627287	T T	TTGTCTTC others(8): Show TTGTCTTCTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02027.hp1 HG02083.hp2 others(2): Show HG01978.hp1 HG02027.hp1 HG02083.hp2 HG04184.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 others(2): Show a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0203 a0001c0002t0013g0202	5	250	0.0200	15	c.540 others(32): Show c.540+8951_540+8952insGTCTTCTCTTCTTCT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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