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
LYPD6B_chr2_149033699_149220262	149189342	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(12): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG01257.hp1 HG01891.hp1 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 NA18944.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0030 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0002g0226	15	264	0.0568	18	c.78- others(35): Show c.78-15902_78-15885dupTATATATATATATATATA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149189367	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG02129.hp2 others(6): Show HG00544.hp2 HG01167.hp2 HG02129.hp2 HG02293.hp1 HG02523.hp2 HG03669.hp1 NA18951.hp2 NA18966.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0107 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0107 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0247	9	264	0.0341	18	c.78- others(35): Show c.78-15885_78-15884insTATATATATATATATACA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6_chr2_149325587_149479138	149478377	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA21309.hp2 HG02615.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0065 a0001c0001t0014g0153 a0001c0001t0004g0065 a0001c0001t0014g0153	2	230	0.0087	18	c.75 others(29): Show c.7527_*7528insGTGTGTGTGTGTGTGTGT	LYPD6	ENSG00000187123.15	transcript	ENST00000334166.9	protein_coding		4240		chr2	TogoVar
LYPD8_chr1_248734415_248760759	248752480	A A	ACACATGC others(11): Show ACACATGCACATCACCCCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	374	0.0027	18	c.-49 others(35): Show c.-49-1368_-49-1351dupGGGGGTGATGTGCATGTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	2	306	0.0065	18	c.101 others(37): Show c.101+16774_101+16775insATATATATATTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	306	0.0033	18	c.101 others(37): Show c.101+16774_101+16775insATATATATATATATTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLAL1_chr1_219168878_219217858	219217379	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01081.hp2 others(13): Show HG00621.hp2 HG01070.hp1 HG01081.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02300.hp1 HG02698.hp2 HG02809.hp1 NA18950.hp2 NA18986.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0051 a0001c0001t0002g0159	16	358	0.0447	18	c.56 others(29): Show c.5651_*5652insGTGTGTGTGTGTGTGTGT	LYPLAL1	ENSG00000143353.12	transcript	ENST00000366928.10	protein_coding		4522		chr1	TogoVar
LYRM1_chr16_20895771_20930006	20904691	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp1 others(7): Show HG00323.hp2 HG00423.hp1 HG00438.hp1 HG02155.hp2 HG02630.hp1 HG03486.hp2 NA18955.hp2 NA18963.hp2 NA18973.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085	10	382	0.0262	18	c.-1+ others(33): Show c.-1+3803_-1+3804insTTGTGTGTGTGTGTGTGT	LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
LYRM1_chr16_20895771_20930006	20927049	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 NA18982.hp1 HG03017.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0139 a0001c0001t0001g0003 a0001c0001t0001g0139	2	382	0.0052	18	c.29 others(29): Show c.2933_*2934insATATATATATATATATAT	LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding		2044		chr16	TogoVar
LYRM4_chr6_5103419_5265950	5118094	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0018 a0001c0001t0002 a0002c0002t0018	a0001c0001t0002g0116 a0002c0002t0018g0190 a0001c0001t0002g0116 a0002c0002t0018g0190	2	286	0.0070	18	c.208 others(35): Show c.208-8604_208-8603insAAAAAAAAAATATATATA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5162511	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19088.hp1 HG03834.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0170 a0001c0001t0007g0108 a0001c0001t0002g0170 a0001c0001t0007g0108	2	286	0.0070	18	c.208 others(37): Show c.208-53021_208-53020insTTCTCTCTCTCTCTCTCT	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM7_chr5_131165944_131210428	131181298	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	300	0.0033	18	c.92- others(31): Show c.92-930_92-929insTATATATATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181302	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	300	0.0033	18	c.92- others(31): Show c.92-926_92-925insAAAATATATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181302	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp2 NA19086.hp1 others(3): Show HG00673.hp1 HG02109.hp2 NA19086.hp1 NA19086.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0272 a0001c0001t0002g0241 a0001c0001t0004g0179 a0001c0001t0038g0104	6	300	0.0200	18	c.92- others(31): Show c.92-926_92-925insAATATATATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181316	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	300	0.0033	18	c.92- others(31): Show c.92-912_92-911insTATATATATATATACACA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181316	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01099.hp1 others(9): Show HG00323.hp1 HG00741.hp1 HG01099.hp1 HG01517.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG03704.hp1 NA18941.hp2 NA18946.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(9): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0276 a0001c0001t0004g0200 a0001c0001t0011g0102 a0001c0001t0011g0163 a0001c0001t0024g0165	12	300	0.0400	18	c.92- others(31): Show c.92-912_92-911insTATATATATATATATACA	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(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp1 HG03669.hp2 NA19057.hp1 HG02273.hp1 HG03669.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0039 a0001c0001t0027g0144 a0001c0001t0027g0039 a0001c0001t0027g0144	3	344	0.0087	18	c.64 others(27): Show c.643_*644insTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(44): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02615.hp2 HG02683.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18973.hp2 NA18978.hp2 NA18987.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19082.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0001c0001t0004 a0003c0007t0003 a0001c0001t0003 a0001c0001t0004 a0003c0007t0003	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0011 others(9): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0056 a0003c0007t0003g0097	47	410	0.1146	18	c.40 others(29): Show c.4063_*4064insGTGTGTGTGTGTGTGTGT	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		870		chr5	TogoVar
LYST_chr1_235656041_235871906	235666607	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	236	0.0042	18	c.110 others(39): Show c.11039-2004_11039-1987dupGTGTGTGTGTGTGTGTGT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	50/52			chr1	TogoVar
LYST_chr1_235656041_235871906	235695629	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0011 a0020c0035t0011	a0020c0035t0011g0172 a0020c0035t0011g0172	1	236	0.0042	18	c.105 others(39): Show c.10564+1436_10564+1453dupAAAAAAAAAAAAAAAAAA	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	46/52			chr1	TogoVar
LYZL1_chr10_29284070_29316232	29306549	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp1 HG02809.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	442	0.0045	18	c.299 others(35): Show c.299-3552_299-3535dupAAAAAAAAAAAAAAAAAA	LYZL1	ENSG00000120563.10	transcript	ENST00000649382.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYZL2_chr10_30606779_30634753	30617679	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	456	0.0022	18	c.299 others(35): Show c.299-4780_299-4779insCTTTTTTTTTTTTTTTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding	3/4			chr10	TogoVar
LZTS1_chr8_20241165_20308963	20251098	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18966.hp1 HG01175.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0119 a0001c0001t0004g0079 a0001c0001t0002g0119 a0001c0001t0004g0079	2	406	0.0049	18	c.115 others(35): Show c.1150-753_1150-736dupATATATATATATATATAT	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	3/3			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20259876	G G	GTTATTAT others(11): Show GTTATTATTTTTTATTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02257.hp1 others(13): Show HG00408.hp2 HG02027.hp2 HG02257.hp1 HG02622.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp2 HG03710.hp2 NA18946.hp2 NA18952.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18998.hp1 NA19067.hp2 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0027 a0001c0004t0045 a0001c0004t0006 a0001c0004t0027 a0001c0004t0045	a0001c0004t0006g0006 a0001c0004t0006g0031 a0001c0004t0006g0057 others(12): Show a0001c0004t0006g0006 a0001c0004t0006g0031 a0001c0004t0006g0057 a0001c0004t0006g0058 a0001c0004t0006g0153 a0001c0004t0006g0215 a0001c0004t0006g0277 a0001c0004t0006g0292 a0001c0004t0006g0320 a0001c0004t0006g0321 a0001c0004t0006g0335 a0001c0004t0006g0364 a0001c0004t0027g0293 a0001c0004t0027g0362 a0001c0004t0045g0211	16	406	0.0394	18	c.-13 others(37): Show c.-134-4562_-134-4561insATAAATAAAAAATAATAA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	1/3			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20274961	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0028 a0008c0016t0034 a0001c0001t0028 a0008c0016t0034	a0001c0001t0028g0377 a0008c0016t0034g0029 a0001c0001t0028g0377 a0008c0016t0034g0029	2	406	0.0049	18	c.-13 others(39): Show c.-134-19664_-134-19647dupCACACACACACACACACA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	1/3			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20304885	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02818.hp2 HG01516.hp1 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0021 a0004c0007t0001 a0001c0001t0021 a0004c0007t0001	a0001c0001t0021g0393 a0004c0007t0001g0245 a0001c0001t0021g0393 a0004c0007t0001g0245	2	406	0.0049	18	c.-12 others(29): Show c.-1281_-1280insCACACACACACACACACA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding		923		chr8	TogoVar
LZTS2_chr10_100994808_101012833	100999862	G G	GGCCGGGG others(11): Show GGCCGGGGCCGGAGCCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0001 a0001c0002t0012g0001	1	406	0.0025	18	c.-12 others(27): Show c.-121_-104dupAGCCGGAGCCGGGGCCGG	LZTS2	ENSG00000107816.17	transcript	ENST00000454422.2	protein_coding	1/5	2647	INFO_REALIGN_3_PRIME	chr10	TogoVar
MAB21L1_chr13_35468789_35481689	35476296	C C	CCTGCTGC others(11): Show CCTGCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG03098.hp2 others(2): Show HG02055.hp1 HG02074.hp1 HG03098.hp2 NA19006.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0036 a0001c0001t0022 a0001c0001t0036	a0001c0001t0022g0000 a0001c0001t0036g0000 a0001c0001t0022g0000 a0001c0001t0036g0000	5	466	0.0107	18	c.-17 others(27): Show c.-176_-159dupCAGCAGCAGCAGCAGCAG	MAB21L1	ENSG00000180660.9	transcript	ENST00000379919.6	protein_coding	1/1	159		chr13	TogoVar
MAB21L3_chr1_116106399_116143149	116117158	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01928.hp1 others(4): Show HG01106.hp1 HG01255.hp2 HG01928.hp1 NA18962.hp2 NA18991.hp2 NA19001.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0095 a0001c0002t0003g0096 others(1): Show a0001c0002t0003g0015 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097	7	412	0.0170	18	c.49- others(33): Show c.49-3771_49-3770insTATATATATATATATATA	MAB21L3	ENSG00000173212.5	transcript	ENST00000369500.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAB21L3_chr1_116106399_116143149	116117162	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	412	0.0024	18	c.49- others(33): Show c.49-3757_49-3740dupATATATATATATATATAT	MAB21L3	ENSG00000173212.5	transcript	ENST00000369500.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39296823	G G	GAAGGAAA others(11): Show GAAGGAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03927.hp2 HG02602.hp1 HG03927.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0108 a0003c0002t0001g0109	2	246	0.0081	18	c.235 others(35): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGGAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39296827	G G	GAAAAGAA others(11): Show GAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0213 a0008c0010t0003g0213	1	246	0.0041	18	c.235 others(35): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGAAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39306860	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0242 a0006c0005t0001g0242	1	246	0.0041	18	c.279 others(37): Show c.2790-2694_2790-2677dupATTATTATTATTATTATT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39406756	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0242 a0006c0005t0001g0242	1	246	0.0041	18	c.158 others(41): Show c.15817-15616_15817-15615insAAAAAAAAAAAAAAACAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39440111	C C	CTTTTCTT others(11): Show CTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0235 a0006c0005t0001g0235	1	246	0.0041	18	c.184 others(37): Show c.18447+615_18447+616insCTTTTTTTTTTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	72/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103263210	C C	CTCCTCCT others(11): Show CTCCTCCTCCTCCTGCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG02145.hp2 others(14): Show HG00738.hp2 HG00741.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007	a0001c0001t0002g0057 a0001c0002t0003g0050 a0001c0002t0003g0051 others(14): Show a0001c0001t0002g0057 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0056 a0001c0002t0003g0060 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0006g0054 a0001c0002t0006g0055 a0001c0002t0006g0058 a0001c0002t0006g0059 a0001c0002t0006g0061 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0066	17	360	0.0472	18	c.-11 others(37): Show c.-113-2685_-113-2684insGCTCTTCCTCCTCCTCCT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACO1_chr1_25425897_25505209	25454466	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	282	0.0036	18	c.473 others(31): Show c.473+85_473+86insATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454470	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	282	0.0036	18	c.473 others(32): Show c.473+90_473+107dupATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454488	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0065 a0001c0001t0027g0065	1	282	0.0036	18	c.473 others(33): Show c.473+107_473+108insATATATATATATATATTT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25480929	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	282	0.0036	18	c.115 others(37): Show c.1155-3186_1155-3185insAAAAAAAATATATATATA	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD1_chr11_63993558_64171113	64143753	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG02300.hp1 others(2): Show HG01106.hp1 HG02109.hp1 HG02300.hp1 HG02647.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0002t0001g0009	5	198	0.0253	18	c.517 others(35): Show c.517+7468_517+7485dupGTGTGTGTGTGTGTGTGT	MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	3/10			chr11	TogoVar
MACROD2_chr20_13990516_16058197	14071252	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0005g0003 a0001c0001t0001g0004 a0001c0001t0005g0003	2	24	0.0833	18	c.164 others(37): Show c.164-14360_164-14343dupTTTTTTTTTTTTTTTTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14515455	A A	ACACACAC others(11): Show ACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	24	0.0417	18	c.301 others(37): Show c.301+21956_301+21957insACACACGCGCACACACAC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14515463	A A	ACACACAC others(11): Show ACACACACACACGCGCACG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	24	0.0417	18	c.301 others(37): Show c.301+21956_301+21957insACACACACACGCGCACGC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14515463	A A	ACACACAC others(11): Show ACACACACGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	24	0.0417	18	c.301 others(37): Show c.301+21956_301+21957insACACACGCGCGCGCGCGC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14515469	A A	ACACGCGC others(11): Show ACACGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp1 HG03041.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0011 a0002c0002t0003g0024 a0001c0001t0001g0011 a0002c0002t0003g0024	2	24	0.0833	18	c.301 others(37): Show c.301+21964_301+21965insGCGCGCGCGCGCGCGCAC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14853173	C C	CTGTATGT others(11): Show CTGTATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	24	0.0417	18	c.418 others(39): Show c.418+168217_418+168218insATGTGTGTGTGTGTGTGT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15234012	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0023 a0002c0002t0008g0023	1	24	0.0417	18	c.540 others(35): Show c.540+3971_540+3988dupTTTTTTTTTTTTTTTTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15301591	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0023 a0002c0002t0008g0023	1	24	0.0417	18	c.540 others(37): Show c.540+71536_540+71553dupTTTTTTTTTTTTTTTTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15461006	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	24	0.0417	18	c.571 others(37): Show c.571+29572_571+29573insATATATATATATATTTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar

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