Joint Open Genome and Omics Platform (JoGo)

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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
LYPD8_chr1_248734415_248760759	248744638	G G	GTGGATCT others(21): Show GTGGATCTCACAATGGGTAGCGTCAAATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA18522.hp2 HG02622.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0092 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0003g0092 a0001c0001t0006g0047 a0001c0001t0006g0048	3	374	0.0080	28	c.475 others(43): Show c.475+503_475+504insTATTTGACGCTACCCATTGTGAGATCCA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746942	G G	GCACCCAC others(21): Show GCACCCACCCAGGGCATCGCCCGCACGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp1 HG02129.hp2 others(6): Show HG01106.hp1 HG01934.hp1 HG02129.hp2 HG03139.hp1 HG03490.hp1 HG04228.hp2 NA19011.hp1 NA19066.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0165 a0001c0001t0001g0166 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0235 a0001c0001t0001g0244 a0004c0004t0001g0152	9	374	0.0241	28	c.337 others(45): Show c.337+1346_337+1347insGCCGTGCGGGCGATGCCCTGGGTGGGTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYRM1_chr16_20895771_20930006	20927049	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00642.hp1 others(20): Show HG00423.hp1 HG00597.hp1 HG00642.hp1 HG01069.hp2 HG01099.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG02300.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG03831.hp1 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18974.hp2 NA18990.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0216 a0001c0001t0003g0027 a0001c0001t0005g0215	23	382	0.0602	28	c.29 others(39): Show c.2933_*2934insATATATATATATATATATATATATATAT	LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding		2044		chr16	TogoVar
LYRM4_chr6_5103419_5265950	5134982	G G	GCTGTGGA others(21): Show GCTGTGGAGGGTGCGGTTCACTCCCGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01943.hp2 others(15): Show HG00597.hp1 HG01167.hp1 HG01943.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03471.hp1 HG03491.hp2 NA18906.hp1 NA19076.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010	a0001c0001t0002g0121 a0002c0002t0002g0001 a0002c0002t0002g0005 others(15): Show a0001c0001t0002g0121 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0005g0196 a0002c0002t0005g0199 a0002c0002t0005g0205 a0002c0002t0005g0206 a0002c0002t0005g0210 a0002c0002t0005g0231 a0002c0002t0005g0269 a0002c0002t0005g0277 a0002c0002t0010g0186 a0002c0002t0010g0188 a0002c0002t0010g0189	18	286	0.0629	28	c.208 others(47): Show c.208-25492_208-25491insTCCCGGGAGTGAACCGCACCCTCCAC AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135010	G G	GCTGTGGA others(21): Show GCTGTGGAGGGTGCGGTTCACTCCCGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0191 a0002c0002t0010g0191	1	286	0.0035	28	c.208 others(47): Show c.208-25520_208-25519insTCCCGGGAGTGAACCGCACCCTCCAC AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135113	G G	GCTCCCGG others(21): Show GCTCCCGGGACTGTGGAGGGTGCGGTTCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	286	0.0035	28	c.208 others(47): Show c.208-25623_208-25622insTGAACCGCACCCTCCACAGTCCCGGG AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135222	T T	TTCGCTCC others(21): Show TTCGCTCCCGGGACTGTGGAGGGTGCGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0191 a0002c0002t0010g0191	1	286	0.0035	28	c.208 others(47): Show c.208-25732_208-25731insTCCGCACCCTCCACAGTCCCGGGAGC GA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135290	G G	GCTGTGGA others(21): Show GCTGTGGAGGGTGCGGATCGCTCCCGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01943.hp2 others(12): Show HG00597.hp1 HG01167.hp1 HG01943.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG03471.hp1 NA19076.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010	a0001c0001t0002g0121 a0002c0002t0002g0005 a0002c0002t0002g0010 others(12): Show a0001c0001t0002g0121 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0005g0196 a0002c0002t0005g0199 a0002c0002t0005g0205 a0002c0002t0005g0206 a0002c0002t0005g0231 a0002c0002t0005g0269 a0002c0002t0005g0277 a0002c0002t0010g0186 a0002c0002t0010g0188 a0002c0002t0010g0189	15	286	0.0525	28	c.208 others(47): Show c.208-25800_208-25799insTCCCGGGAGCGATCCGCACCCTCCAC AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135290	G G	GCTGTGGA others(21): Show GCTGTGGAGGGTGCGGTTCGCTCCCGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03453.hp2 others(1): Show HG02615.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0014 a0002c0002t0018 a0002c0002t0008 a0002c0002t0014 a0002c0002t0018	a0002c0002t0008g0211 a0002c0002t0014g0018 a0002c0002t0014g0025 others(1): Show a0002c0002t0008g0211 a0002c0002t0014g0018 a0002c0002t0014g0025 a0002c0002t0018g0190	4	286	0.0140	28	c.208 others(47): Show c.208-25800_208-25799insTCCCGGGAGCGAACCGCACCCTCCAC AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135337	G G	GCTCCTGG others(21): Show GCTCCTGGGGCTGTGGAGGGTGCGGTTCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0195 a0002c0002t0008g0195	1	286	0.0035	28	c.208 others(47): Show c.208-25847_208-25846insTGAACCGCACCCTCCACAGCCCCAGG AG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM7_chr5_131165944_131210428	131181302	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	300	0.0033	28	c.92- others(41): Show c.92-912_92-911insTATATATATATATATATATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG02559.hp2 HG03710.hp2 HG01169.hp1 HG02559.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0041 a0001c0001t0030g0138 a0001c0001t0030g0041 a0001c0001t0030g0138	3	344	0.0087	28	c.64 others(37): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA19009.hp2 HG02630.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0007 a0001c0001t0004g0005 a0001c0001t0003g0007 a0001c0001t0004g0005	2	410	0.0049	28	c.40 others(39): Show c.4063_*4064insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		870		chr5	TogoVar
LYST_chr1_235656041_235871906	235755388	C C	CAAGAAAA others(21): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0105 a0005c0019t0001g0105	1	236	0.0042	28	c.722 others(43): Show c.7229+89_7229+90insCTTTTCTTTTCTTTTCTTTTCTTTTCTT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52			chr1	TogoVar
LYVE1_chr11_10551966_10573665	10556700	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA19011.hp2 NA18947.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	394	0.0051	28	c.24 others(39): Show c.2410_*2411insAAGGAAGGAAGGAAGGAAGGAAGGAAGG	LYVE1	ENSG00000133800.9	transcript	ENST00000256178.8	protein_coding		265		chr11	TogoVar
LYZL2_chr10_30606779_30634753	30611530	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	456	0.0022	28	c.42 others(37): Show c.424_*425insCTTCCTTCCTTCCTTCCTTCCTTCCTTC	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		248		chr10	TogoVar
LYZL2_chr10_30606779_30634753	30611570	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0250 a0001c0004t0001g0250	1	456	0.0022	28	c.38 others(37): Show c.384_*385insTTTCTTTCCTTCCTTCCTTCCTTCCTTC	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		208		chr10	TogoVar
LYZL2_chr10_30606779_30634753	30611702	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp2 others(7): Show HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02970.hp1 HG03486.hp1 HG03486.hp2 HG03834.hp2 NA18959.hp1 NA19064.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0122 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0001g0400	10	456	0.0219	28	c.25 others(37): Show c.252_*253insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		76		chr10	TogoVar
LZTS1_chr8_20241165_20308963	20274961	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02895.hp1 others(4): Show HG01891.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0009 a0001c0001t0010 a0003c0005t0009 a0001c0001t0009 a0001c0001t0010 a0003c0005t0009	a0001c0001t0009g0389 a0001c0001t0009g0390 a0001c0001t0010g0227 others(4): Show a0001c0001t0009g0389 a0001c0001t0009g0390 a0001c0001t0010g0227 a0001c0001t0010g0228 a0003c0005t0009g0394 a0003c0005t0009g0395 a0003c0005t0009g0396	7	406	0.0172	28	c.-13 others(49): Show c.-134-19647_-134-19646insCACACACACACACACACACACACA CACA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	1/3			chr8	TogoVar
MACF1_chr1_39199695_39492138	39393192	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0166 a0005c0008t0007g0166	1	246	0.0041	28	c.158 others(49): Show c.15816+4535_15816+4536insTATATATATATATATATATATATA TATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393194	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0210 a0005c0008t0001g0210	1	246	0.0041	28	c.158 others(49): Show c.15816+4537_15816+4538insTATATATATATATATATATATATA TATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0236 a0006c0005t0001g0236	1	246	0.0041	28	c.158 others(49): Show c.15816+4539_15816+4540insAAAAAAAAAAAAAATATATATATA TATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0239 a0006c0005t0001g0239	1	246	0.0041	28	c.158 others(49): Show c.15816+4539_15816+4540insAAAAAAAATATATATATATATATA TATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454468	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	282	0.0036	28	c.473 others(41): Show c.473+87_473+88insATATATATATATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD1_chr11_63993558_64171113	64005022	C C	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG03225.hp2 others(2): Show HG00099.hp2 HG01243.hp1 HG03225.hp2 NA18970.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0046 a0001c0002t0001g0093 a0001c0002t0001g0163 others(2): Show a0001c0002t0001g0046 a0001c0002t0001g0093 a0001c0002t0001g0163 a0001c0002t0001g0165 a0002c0003t0001g0103	5	198	0.0253	28	c.548 others(45): Show c.548-4680_548-4679insTAAATAAATAAATAAATAAATAAATAAA	MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	4/10			chr11	TogoVar
MACROD2_chr20_13990516_16058197	14322175	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03041.hp1 HG01168.hp2 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0024 a0002c0002t0007g0013 a0002c0002t0003g0024 a0002c0002t0007g0013	2	24	0.0833	28	c.272 others(49): Show c.272-171278_272-171277insATATATATATATATATATATATAT ATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14600327	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	24	0.0417	28	c.302 others(47): Show c.302-84499_302-84498insTATATATATATATATATATATATATA TA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14862054	T T	TATATTTT others(21): Show TATATTTTTATATATATAAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG02559.hp2 HG03486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 a0002c0002t0010	a0001c0001t0001g0004 a0001c0001t0011g0009 a0002c0002t0001g0018 others(1): Show a0001c0001t0001g0004 a0001c0001t0011g0009 a0002c0002t0001g0018 a0002c0002t0010g0007	4	24	0.1667	28	c.418 others(49): Show c.418+177099_418+177100insTTTTATATATATAAATATATAAAA ATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14890989	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	24	0.0417	28	c.418 others(49): Show c.418+206033_418+206034insTCCTTCCTTCCTTCCTTCCTTCCT CCCT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14938940	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	24	0.0417	28	c.418 others(49): Show c.418+254003_418+254004insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15550237	T T	TTATTTAA others(21): Show TTATTTAAAATAAGAAATATTTAAATAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	24	0.0417	28	c.645 others(47): Show c.645+50469_645+50496dupAATAAATATTTAAAATAAGAAATATT TA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	24	0.0417	28	c.727 others(45): Show c.727+6413_727+6414insTATATATAGAGAGAGAGAGAGAGAGAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15876109	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19030.hp1 HG01081.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0015 a0001c0001t0001g0011 a0001c0001t0002g0015	2	24	0.0833	28	c.728 others(45): Show c.728-9652_728-9651insATATATATATATATATATATATATGTAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15995649	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	24	0.0417	28	c.115 others(47): Show c.1153+8511_1153+8512insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1929724	C C	CCCCCACT others(21): Show CCCCCACTGCCACGTCCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	264	0.0038	28	c.180 others(47): Show c.1807+6962_1807+6963insACGGGGCGAGGGGGACGTGGCAGTGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929738	T T	TCCCCTCG others(21): Show TCCCCTCGCCCCGTCCCCACTGCCACGTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0240 a0002c0005t0001g0240	1	264	0.0038	28	c.180 others(47): Show c.1807+6921_1807+6948dupGACGTGGCAGTGGGGACGGGGCGAGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929799	G G	GCCCCATC others(21): Show GCCCCATCCCCCACTGCCACGTCCCCTCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp1 NA18975.hp1 HG01123.hp1 HG02145.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0125 a0001c0001t0001g0236 a0001c0001t0001g0245	3	264	0.0114	28	c.180 others(47): Show c.1807+6887_1807+6888insTGAGGGGACGTGGCAGTGGGGGATGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929802	C C	CCGTCCCC others(21): Show CCGTCCCCTACTGACACATCCCACCACCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp2 NA20805.hp2 HG01361.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0175	3	264	0.0114	28	c.180 others(47): Show c.1807+6884_1807+6885insTGGTGGTGGGATGTGTCAGTAGGGGA CG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929824	T T	TCGCCCAT others(21): Show TCGCCCATCCCCCACTGCCACGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0096 a0002c0009t0001g0096	1	264	0.0038	28	c.180 others(47): Show c.1807+6862_1807+6863insGAGGGGACGTGGCAGTGGGGGATGGG CG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929824	T T	TCGCCCCG others(21): Show TCGCCCCGTCCCCACTGCCACGTCCCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	264	0.0038	28	c.180 others(47): Show c.1807+6862_1807+6863insGAGGGGACGTGGCAGTGGGGACGGGG CG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929916	A A	ACACTGCC others(21): Show ACACTGCCATGTCCCCTCGCCCCATCCCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp2 NA21309.hp1 HG02897.hp2 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0010t0001g0084 a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0010t0001g0084	3	264	0.0114	28	c.180 others(47): Show c.1807+6770_1807+6771insGGGGATGGGGCGAGGGGACATGGCAG TG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930050	T T	TCCCCACT others(21): Show TCCCCACTGCCACGTCCCCTCGCCCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG02486.hp2 others(1): Show HG00438.hp1 HG01081.hp2 HG02486.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0001c0001t0001 a0001c0015t0001 a0002c0002t0001	a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0015t0001g0238 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0015t0001g0238 a0002c0002t0001g0048	4	264	0.0152	28	c.180 others(47): Show c.1807+6636_1807+6637insGATGGGGCGAGGGGACGTGGCAGTGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930064	T T	TCCCCTCG others(21): Show TCCCCTCGCCCCGTCCCCACTGCCACGTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18985.hp1 HG03927.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0012 a0001c0004 a0002c0012	a0001c0004t0001 a0002c0012t0001 a0001c0004t0001 a0002c0012t0001	a0001c0004t0001g0100 a0002c0012t0001g0044 a0001c0004t0001g0100 a0002c0012t0001g0044	2	264	0.0076	28	c.180 others(47): Show c.1807+6595_1807+6622dupGACGTGGCAGTGGGGACGGGGCGAGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930077	T T	TCCCCACT others(21): Show TCCCCACTGCCACGTCCCCTCGCCCCATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 NA18522.hp1 HG01884.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149	3	264	0.0114	28	c.180 others(47): Show c.1807+6609_1807+6610insGATGGGGCGAGGGGACGTGGCAGTGG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930103	G G	GTCCCCAC others(21): Show GTCCCCACTGCCACGTCCCCTCGCCCCAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04199.hp2 HG03831.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0097 a0001c0004t0001g0098	2	264	0.0076	28	c.180 others(47): Show c.1807+6583_1807+6584insATGGGGCGAGGGGACGTGGCAGTGGG GA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930189	A A	ACACTGCC others(21): Show ACACTGCCATGTCCCCTCGCCCCATCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	28	c.180 others(47): Show c.1807+6497_1807+6498insGGGGATGGGGCGAGGGGACATGGCAG TG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCTACTGC others(21): Show CCTACTGCCACATCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 NA18522.hp1 HG01884.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149	3	264	0.0114	28	c.180 others(47): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGATGTGGCAGT AG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930273	A A	ACTGCCAC others(21): Show ACTGCCACGTCCCACCACCACGTCCACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01109.hp1 others(30): Show HG00642.hp2 HG01081.hp1 HG01109.hp1 HG01981.hp2 HG02258.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18948.hp1 NA18981.hp1 NA18995.hp2 NA18999.hp1 NA19030.hp1 NA19060.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0115 others(30): Show a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0087 a0001c0003t0001g0005 a0001c0003t0001g0066 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0010t0001g0084	33	264	0.1250	28	c.180 others(47): Show c.1807+6413_1807+6414insGTGTGGACGTGGTGGTGGGACGTGGC AG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930400	C C	CCCCGTCC others(21): Show CCCCGTCCCCCACTGCCACAACCCCTCAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	264	0.0038	28	c.180 others(47): Show c.1807+6286_1807+6287insATGAGGGGTTGTGGCAGTGGGGGACG GG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAGEA12_chrX_152728757_152742669	152729992	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA19007.hp1 NA19054.hp1 NA18991.hp1 NA19007.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0004 a0001c0001t0001g0002 a0001c0002t0001g0004	3	322	0.0093	28	c.-40 others(39): Show c.-4049_-4048insTATATATATATATATATATATATATATA	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding		3764		chrX	TogoVar

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