Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAGI2_chr7_78012055_79458667	79387094	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0008 a0001c0003t0002g0012 a0001c0002t0001g0008 a0001c0003t0002g0012	2	40	0.0500	18	c.301 others(37): Show c.301+65908_301+65925dupCACACACACACACACACA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113437876	T T	TTCTTCTT others(11): Show TTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp1 NA18994.hp1 HG01192.hp2 HG02300.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0004g0022 a0001c0001t0004g0040 a0001c0001t0001g0029 a0001c0001t0004g0022 a0001c0001t0004g0040	3	236	0.0127	18	c.316 others(37): Show c.316+46530_316+46531insTCTTCTTCTTCTTCCTCT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113437882	T T	TTCTTCTT others(11): Show TTCTTCTTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	236	0.0042	18	c.316 others(37): Show c.316+46536_316+46537insTCTTCTTCCTCTTCCTCT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113449360	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	236	0.0042	18	c.316 others(37): Show c.316+58023_316+58040dupTGTGTGTGTGTGTGTGTG	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113623453	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG03834.hp1 others(5): Show HG01192.hp1 HG01952.hp2 HG03834.hp1 NA18950.hp1 NA18957.hp1 NA18973.hp1 NA19074.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0170	8	236	0.0339	18	c.136 others(35): Show c.1360+477_1360+494dupCACACACACACACACACA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGIX_chrX_49157758_49173774	49169081	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02647.hp1 HG02886.hp2 others(8): Show HG01261.hp1 HG02647.hp1 HG02886.hp2 NA18906.hp2 NA18940.hp1 NA18966.hp1 NA18990.hp1 NA18997.hp2 NA19005.hp1 NA19012.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0001c0001t0001 a0002c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0003t0005g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0003t0005g0004 a0002c0003t0005g0021	11	260	0.0423	18	c.26 others(29): Show c.2682_*2683insAAAAAAAAAAAAAAAAAA	MAGIX	ENSG00000269313.6	transcript	ENST00000595224.6	protein_coding		308		chrX	TogoVar
MAGOH_chr1_53221900_53243518	53237673	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18939.hp1 NA18943.hp2 others(1): Show HG02165.hp2 NA18939.hp1 NA18943.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142	4	438	0.0091	18	c.88+ others(31): Show c.88+670_88+687dupTTTTTTTTTTTTTTTTTT	MAGOH	ENSG00000162385.11	transcript	ENST00000371470.8	protein_coding	1/4			chr1	TogoVar
MAJIN_chr11_64933230_64977108	64948602	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	384	0.0026	18	c.350 others(33): Show c.350-801_350-784dupATATATATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK16_chr8_33480182_33506262	33481617	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA18974.hp1 HG03942.hp2 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0026 a0002c0002t0005g0112 a0002c0002t0005g0026 a0002c0002t0005g0112	2	400	0.0050	18	c.-35 others(29): Show c.-3590_-3589insGTGTGTGTGTGTGTGTGT	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding		3564		chr8	TogoVar
MAK16_chr8_33480182_33506262	33484317	C C	CCTGACCT others(11): Show CCTGACCTCAGGTAATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0138 a0002c0002t0028g0138	1	400	0.0025	18	c.-89 others(27): Show c.-890_-889insCTGACCTCAGGTAATTCG	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding		864		chr8	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTACATAT others(11): Show GTACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	272	0.0037	18	c.278 others(35): Show c.278+1937_278+1938insTATATATATATATATGTA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02647.hp2 HG02055.hp2 HG02257.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214	3	272	0.0110	18	c.278 others(35): Show c.278+1920_278+1937dupTATATATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0178 a0001c0002t0003g0178	1	272	0.0037	18	c.278 others(35): Show c.278+1937_278+1938insTATATATATATATACACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815945	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0226 a0001c0001t0001g0199 a0001c0001t0002g0226	2	272	0.0074	18	c.278 others(35): Show c.278+1904_278+1905insTTATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19140543	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0001 a0028c0097t0001	a0028c0097t0001g0104 a0028c0097t0001g0104	1	152	0.0066	18	c.141 others(37): Show c.1411+3774_1411+3791dupGTGTGTGTGTGTGTGTGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	10/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	18	c.165 others(35): Show c.1657-388_1657-371dupATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19171457	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0118 a0004c0118	a0004c0118t0001 a0004c0118t0001	a0004c0118t0001g0100 a0004c0118t0001g0100	1	152	0.0066	18	c.183 others(37): Show c.1831-3750_1831-3749insTATATATATATATACACA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19176366	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19043.hp2 HG01256.hp1 NA19043.hp2	a0073 a0074 a0073 a0074	a0073c0031 a0074c0032 a0073c0031 a0074c0032	a0073c0031t0001 a0074c0032t0001 a0073c0031t0001 a0074c0032t0001	a0073c0031t0001g0136 a0074c0032t0001g0124 a0073c0031t0001g0136 a0074c0032t0001g0124	2	152	0.0132	18	c.195 others(37): Show c.1951+1040_1951+1057dupTTTTTTTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATGAT others(11): Show TATATGATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	18	c.444 others(37): Show c.4441+3561_4441+3562insATATGATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19358193	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp2 HG02109.hp2 NA18522.hp2	a0031 a0034 a0031 a0034	a0031c0122 a0034c0046 a0031c0122 a0034c0046	a0031c0122t0001 a0034c0046t0002 a0031c0122t0001 a0034c0046t0002	a0031c0122t0001g0024 a0034c0046t0002g0146 a0031c0122t0001g0024 a0034c0046t0002g0146	2	152	0.0132	18	c.444 others(37): Show c.4441+5896_4441+5897insGTGTGTGTGTGTGTGTGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19373203	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02523.hp1 HG03669.hp2 others(1): Show HG02074.hp2 HG02523.hp1 HG03669.hp2 NA18971.hp1	a0010 a0026 a0075 others(1): Show a0010 a0026 a0075 a0083	a0010c0014 a0026c0063 a0075c0030 others(1): Show a0010c0014 a0026c0063 a0075c0030 a0083c0054	a0010c0014t0001 a0026c0063t0001 a0075c0030t0001 others(1): Show a0010c0014t0001 a0026c0063t0001 a0075c0030t0001 a0083c0054t0001	a0010c0014t0001g0135 a0026c0063t0001g0041 a0075c0030t0001g0125 others(1): Show a0010c0014t0001g0135 a0026c0063t0001g0041 a0075c0030t0001g0125 a0083c0054t0001g0036	4	152	0.0263	18	c.444 others(39): Show c.4442-14308_4442-14307insAAAAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19454405	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(4): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 NA18947.hp2 NA19086.hp1	a0001 a0014 a0020 others(3): Show a0001 a0014 a0020 a0023 a0039 a0045	a0001c0003 a0001c0076 a0014c0068 others(4): Show a0001c0003 a0001c0076 a0014c0068 a0020c0007 a0023c0060 a0039c0095 a0045c0066	a0001c0003t0001 a0001c0076t0002 a0014c0068t0001 others(4): Show a0001c0003t0001 a0001c0076t0002 a0014c0068t0001 a0020c0007t0001 a0023c0060t0001 a0039c0095t0001 a0045c0066t0001	a0001c0003t0001g0056 a0001c0076t0002g0075 a0014c0068t0001g0079 others(4): Show a0001c0003t0001g0056 a0001c0076t0002g0075 a0014c0068t0001g0079 a0020c0007t0001g0131 a0023c0060t0001g0027 a0039c0095t0001g0069 a0045c0066t0001g0012	7	152	0.0461	18	c.502 others(37): Show c.5029+3925_5029+3942dupTATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19482652	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0118 a0004c0118	a0004c0118t0001 a0004c0118t0001	a0004c0118t0001g0100 a0004c0118t0001g0100	1	152	0.0066	18	c.503 others(37): Show c.5030-8843_5030-8826dupCACACACACACACACACA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19539897	T T	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0090 a0090	a0090c0034 a0090c0034	a0090c0034t0003 a0090c0034t0003	a0090c0034t0003g0112 a0090c0034t0003g0112	1	152	0.0066	18	c.547 others(37): Show c.5478+8547_5478+8548insTGTGTGCGCGCGCGCGCG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547785	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA20805.hp2 HG01256.hp2 NA20805.hp2	a0006 a0080 a0006 a0080	a0006c0004 a0080c0053 a0006c0004 a0080c0053	a0006c0004t0001 a0080c0053t0001 a0006c0004t0001 a0080c0053t0001	a0006c0004t0001g0133 a0080c0053t0001g0117 a0006c0004t0001g0133 a0080c0053t0001g0117	2	152	0.0132	18	c.547 others(39): Show c.5478+16451_5478+16468dupATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01993.hp1 HG03491.hp1 others(1): Show HG01192.hp1 HG01993.hp1 HG03491.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0120 a0003c0002 a0001c0001 a0001c0120 a0003c0002	a0001c0001t0001 a0001c0120t0001 a0003c0002t0001 a0001c0001t0001 a0001c0120t0001 a0003c0002t0001	a0001c0001t0001g0054 a0001c0120t0001g0142 a0003c0002t0001g0029 others(1): Show a0001c0001t0001g0054 a0001c0120t0001g0142 a0003c0002t0001g0029 a0003c0002t0001g0046	4	152	0.0263	18	c.547 others(39): Show c.5478+16468_5478+16469insATATATATATATATATTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0061 a0007c0008t0001g0061	1	152	0.0066	18	c.547 others(39): Show c.5478+16468_5478+16469insATATATATATATATTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19692867	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG03710.hp2 others(4): Show HG01884.hp1 HG03540.hp2 HG03710.hp2 NA18957.hp2 NA18960.hp1 NA18988.hp1 NA19088.hp1	a0001 a0011 a0022 others(2): Show a0001 a0011 a0022 a0028 a0071	a0001c0003 a0011c0018 a0022c0010 others(3): Show a0001c0003 a0011c0018 a0022c0010 a0028c0097 a0028c0098 a0071c0121	a0001c0003t0001 a0011c0018t0001 a0022c0010t0001 others(3): Show a0001c0003t0001 a0011c0018t0001 a0022c0010t0001 a0028c0097t0001 a0028c0098t0001 a0071c0121t0002	a0001c0003t0001g0114 a0001c0003t0001g0115 a0011c0018t0001g0028 others(4): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0011c0018t0001g0028 a0022c0010t0001g0138 a0028c0097t0001g0104 a0028c0098t0001g0040 a0071c0121t0002g0078	7	152	0.0461	18	c.631 others(35): Show c.6314+316_6314+333dupTATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19692886	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0036 a0036	a0036c0045 a0036c0045	a0036c0045t0001 a0036c0045t0001	a0036c0045t0001g0014 a0036c0045t0001g0014	1	152	0.0066	18	c.631 others(35): Show c.6314+333_6314+334insTATATATATATATATAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19699277	A A	AGAAAGGA others(11): Show AGAAAGGAGGGAAAGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp2 HG02615.hp2 HG03579.hp2	a0016 a0016	a0016c0038 a0016c0108 a0016c0038 a0016c0108	a0016c0038t0001 a0016c0108t0002 a0016c0038t0001 a0016c0108t0002	a0016c0038t0001g0120 a0016c0108t0002g0145 a0016c0038t0001g0120 a0016c0108t0002g0145	2	152	0.0132	18	c.631 others(37): Show c.6314+6757_6314+6774dupAGGGAAAGGAGGGAAAGG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719167	T T	TATACATA others(11): Show TATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0035 a0006c0004t0001g0035	1	152	0.0066	18	c.631 others(39): Show c.6315-11532_6315-11531insTATATATATACATACATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719169	T T	TACATATA others(11): Show TACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0066 a0066	a0066c0082 a0066c0082	a0066c0082t0001 a0066c0082t0001	a0066c0082t0001g0144 a0066c0082t0001g0144	1	152	0.0066	18	c.631 others(39): Show c.6315-11532_6315-11531insTATATATATATACACATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719208	A A	ACACATAT others(11): Show ACACATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	152	0.0066	18	c.631 others(39): Show c.6315-11498_6315-11497insCACATATATATATATATG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19722590	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0087 a0087	a0087c0105 a0087c0105	a0087c0105t0001 a0087c0105t0001	a0087c0105t0001g0047 a0087c0105t0001g0047	1	152	0.0066	18	c.631 others(37): Show c.6315-8104_6315-8087dupAAAAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19729592	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18988.hp1 NA18957.hp2 NA18988.hp1	a0001 a0028 a0001 a0028	a0001c0003 a0028c0098 a0001c0003 a0028c0098	a0001c0003t0001 a0028c0098t0001 a0001c0003t0001 a0028c0098t0001	a0001c0003t0001g0114 a0028c0098t0001g0040 a0001c0003t0001g0114 a0028c0098t0001g0040	2	152	0.0132	18	c.631 others(37): Show c.6315-1109_6315-1092dupGTGTGTGTGTGTGTGTGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19731492	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0090 a0090	a0090c0034 a0090c0034	a0090c0034t0003 a0090c0034t0003	a0090c0034t0003g0112 a0090c0034t0003g0112	1	152	0.0066	18	c.639 others(35): Show c.6390+722_6390+739dupTGTGTGTGTGTGTGTGTG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	39/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58692407	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18612.hp2 NA18956.hp1 HG00609.hp1 NA18612.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0025	3	406	0.0074	18	c.377 others(35): Show c.377-3947_377-3930dupTCTCTCTCTCTCTCTCTC	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAMDC2_chr9_70038848_70231972	70099980	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18991.hp1 HG03130.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0270 a0001c0001t0001g0212 a0001c0001t0001g0270	2	340	0.0059	18	c.149 others(35): Show c.149-8204_149-8187dupAGAGAGAGAGAGAGAGAG	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70100017	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	340	0.0029	18	c.149 others(35): Show c.149-8187_149-8186insAGAGAGAGAGCGAGAGAG	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70118297	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp2 HG02135.hp2 others(6): Show HG00673.hp1 HG02129.hp2 HG02135.hp2 HG02886.hp1 NA18747.hp2 NA18994.hp1 NA19005.hp1 NA19080.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0185 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0005g0052 a0001c0001t0005g0067	9	340	0.0265	18	c.643 others(35): Show c.643+5199_643+5216dupCACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221356	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02630.hp2 HG01358.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	340	0.0059	18	c.191 others(37): Show c.1911+2768_1911+2785dupTATATATATATATATATA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	340	0.0029	18	c.191 others(37): Show c.1911+2785_1911+2786insTATAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0295 a0003c0004t0003g0295	1	340	0.0029	18	c.191 others(37): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19060.hp1 NA18950.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0008t0003 a0002c0002t0002 a0002c0008t0003	a0002c0002t0002g0111 a0002c0008t0003g0034 a0002c0002t0002g0111 a0002c0008t0003g0034	2	340	0.0059	18	c.191 others(37): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0140	1	340	0.0029	18	c.191 others(37): Show c.1911+2785_1911+2786insTATATATATATAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19000.hp2 NA18953.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0100 a0002c0002t0002g0102	2	340	0.0059	18	c.191 others(37): Show c.1911+2785_1911+2786insTATATATATATATAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML1_chr5_179727822_179782283	179752340	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	360	0.0028	18	c.316 others(37): Show c.316-12985_316-12984insTATATATATATATATATA	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAML2_chr11_95971598_96348195	96034432	T T	TGTGTGTG others(11): Show TGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0099 a0003c0006t0006g0099	1	230	0.0044	18	c.214 others(39): Show c.2140-42710_2140-42709insTCTCTCTCTCTCACACAC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96068438	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG03486.hp1 others(3): Show HG00099.hp1 HG01256.hp1 HG03486.hp1 NA19062.hp2 NA19074.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0002c0003t0012 a0002c0003t0029	a0001c0002t0001g0151 a0001c0002t0001g0207 a0001c0002t0003g0199 others(3): Show a0001c0002t0001g0151 a0001c0002t0001g0207 a0001c0002t0003g0199 a0001c0002t0021g0226 a0002c0003t0012g0189 a0002c0003t0029g0084	6	230	0.0261	18	c.213 others(39): Show c.2139+23436_2139+23453dupTGTGTGTGTGTGTGTGTG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG03490.hp2 others(2): Show HG01975.hp1 HG02257.hp2 HG03490.hp2 HG03710.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013	a0001c0001t0009g0080 a0001c0002t0001g0207 a0001c0002t0002g0011 others(2): Show a0001c0001t0009g0080 a0001c0002t0001g0207 a0001c0002t0002g0011 a0001c0002t0003g0132 a0001c0002t0013g0045	5	230	0.0217	18	c.514 others(37): Show c.514-28281_514-28264dupAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar

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