Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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	149072482	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	264	0.0038	25	c.-67 others(44): Show c.-67+33710_-67+33734dupTATTTTATTTTATTTTATTTTATTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG02886.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0136 a0001c0001t0001g0138	2	264	0.0076	25	c.-66 others(44): Show c.-66-10499_-66-10498insATATATATATATTTTTTTTTTTTTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0251 a0001c0001t0001g0259	2	264	0.0076	25	c.-66 others(44): Show c.-66-10499_-66-10498insATATATATTTTTTTTTTTTTTTTTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYRM4_chr6_5103419_5265950	5118094	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03492.hp1 HG01243.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0087 a0002c0002t0005g0253 a0001c0001t0002g0087 a0002c0002t0005g0253	2	286	0.0070	25	c.208 others(42): Show c.208-8604_208-8603insAAAAATATATATATATATATATATA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM7_chr5_131165944_131210428	131175749	G G	GGTTTGGT others(18): Show GGTTTGGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG03516.hp1 HG02280.hp2 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0029 a0001c0001t0007 a0001c0001t0029	a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0029g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0029g0019	3	300	0.0100	25	c.19- others(40): Show c.19-4342_19-4341insGGTTTTGTTTTGTTTTGTTTTGTTT	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181302	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02630.hp2 HG01123.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0035 a0001c0001t0027 a0001c0001t0035	a0001c0001t0027g0207 a0001c0001t0035g0035 a0001c0001t0027g0207 a0001c0001t0035g0035	2	300	0.0067	25	c.92- others(38): Show c.92-926_92-925insAAATATATATATATATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM7_chr5_131165944_131210428	131181428	T T	TAACATAT others(18): Show TAACATATATATGTATATATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG03540.hp1 others(2): Show HG01167.hp2 HG02615.hp1 HG03540.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 others(2): Show a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0004g0110	5	300	0.0167	25	c.92- others(38): Show c.92-775_92-751dupAACATATATATGTATATATATATAA	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG03831.hp2 others(2): Show HG01109.hp2 HG01192.hp2 HG03831.hp2 NA18945.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0084 a0001c0001t0022g0136 others(1): Show a0001c0001t0022g0040 a0001c0001t0022g0084 a0001c0001t0022g0136 a0001c0001t0022g0147	5	344	0.0145	25	c.64 others(34): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYSMD3_chr5_90510626_90534584	90529748	G G	GGGGCCCG others(18): Show GGGGCCCGGGGGCGGGTCCAATCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18998.hp1 NA19082.hp2 NA18986.hp1 NA18998.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	410	0.0073	25	c.-33 others(34): Show c.-337_-313dupGGGGATTGGACCCGCCCCCGGGCCC	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		165		chr5	TogoVar
LYZL2_chr10_30606779_30634753	30611702	A A	AAAAGAAA others(18): Show AAAAGAAAGAAGAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	456	0.0022	25	c.25 others(34): Show c.252_*253insCTTTCTTTCTTTCTCTTCTTTCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		76		chr10	TogoVar
LZTS3_chr20_3157617_3178549	3167430	T T	TGCTCAGC others(18): Show TGCTCAGCTCAGCTCAGCTCAGCTCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0152	1	446	0.0022	25	c.-18 others(40): Show c.-18-274_-18-250dupTGAGCTGAGCTGAGCTGAGCTGAGC	LZTS3	ENSG00000088899.16	transcript	ENST00000337576.7	protein_coding	2/4			chr20	TogoVar
MAB21L4_chr2_240881048_240901156	240883694	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	446	0.0022	25	c.33 others(36): Show c.3375_*3376insAAAAAAAAAAAAAAAAAAAAAAAAA	MAB21L4	ENSG00000172478.18	transcript	ENST00000388934.5	protein_coding		2353		chr2	TogoVar
MACC1_chr7_20129655_20222384	20138179	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0118 a0002c0002t0118	a0002c0002t0118g0181 a0002c0002t0118g0181	1	316	0.0032	25	c.27 others(36): Show c.2766_*2767insGTTTTTTTTTTTTTTTTTTTTTTTT	MACC1	ENSG00000183742.13	transcript	ENST00000400331.10	protein_coding	7/7	2766		chr7	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0240 a0006c0005t0001g0240	1	246	0.0041	25	c.158 others(46): Show c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT A	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39406756	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0244 a0006c0005t0001g0244	1	246	0.0041	25	c.158 others(48): Show c.15817-15616_15817-15615insAAAAAAAAAAAAAAAAAAAAAA CAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477071	A A	ATACACAC others(18): Show ATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02723.hp2 HG03927.hp1 others(1): Show HG02523.hp1 HG02723.hp2 HG03927.hp1 NA18939.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0080 a0007c0007t0001g0101	4	246	0.0163	25	c.219 others(46): Show c.21959-2725_21959-2724insCACACACATATATACACTTAGTGT A	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477073	A A	ATACACAC others(18): Show ATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0076 a0011c0013t0001g0079 a0011c0013t0001g0076 a0011c0013t0001g0079	2	246	0.0081	25	c.219 others(46): Show c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT A	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477075	A A	ATACACAC others(18): Show ATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19240.hp1 NA21309.hp2 NA18988.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0003 a0012c0029 a0001c0001 a0002c0003 a0012c0029	a0001c0001t0006 a0002c0003t0001 a0012c0029t0001 a0001c0001t0006 a0002c0003t0001 a0012c0029t0001	a0001c0001t0006g0066 a0002c0003t0001g0187 a0012c0029t0001g0165 a0001c0001t0006g0066 a0002c0003t0001g0187 a0012c0029t0001g0165	3	246	0.0122	25	c.219 others(46): Show c.21959-2721_21959-2720insCACACACATATATACACTTAGTGT A	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	360	0.0028	25	c.-11 others(44): Show c.-114+2769_-114+2793dupTCTTTCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	14577794	A A	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG03209.hp2 HG01081.hp2 HG02257.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0001 a0002c0002t0002g0010 a0002c0002t0002g0022 a0001c0001t0003g0001 a0002c0002t0002g0010 a0002c0002t0002g0022	3	24	0.1250	25	c.301 others(44): Show c.301+84304_301+84328dupGAGAAGAGAAGAGAAGAGAAGAGAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15461006	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	24	0.0417	25	c.571 others(44): Show c.571+29572_571+29573insATATATATATATATTTTTTTTTTTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15490233	C C	CTCCCTTC others(18): Show CTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	24	0.0417	25	c.572 others(42): Show c.572-9533_572-9509dupCCTTCCCTTCCCTTCCCTTCCCTTC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1940988	T T	TCCCAGGC others(18): Show TCCCAGGCCTCAGCCTCCTCTTCCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	264	0.0038	25	c.159 others(44): Show c.1597-4116_1597-4092dupGAGGAAGAGGAGGCTGAGGCCTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD2L1_chr4_120050623_120071848	120058602	C C	CTGGGCGA others(18): Show CTGGGCGACAGAATAAGACTCCATCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01099.hp2 others(27): Show HG00597.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02738.hp1 HG02886.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp1 NA18959.hp2 NA18964.hp2 NA18973.hp2 NA18981.hp1 NA19000.hp2 NA19058.hp2 NA19064.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 others(6): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0010 a0001c0002t0013 a0002c0003t0004	a0001c0001t0004g0005 a0001c0001t0013g0070 a0001c0001t0013g0075 others(8): Show a0001c0001t0004g0005 a0001c0001t0013g0070 a0001c0001t0013g0075 a0001c0001t0013g0077 a0001c0001t0028g0074 a0001c0001t0029g0076 a0001c0001t0030g0071 a0001c0001t0031g0073 a0001c0002t0010g0013 a0001c0002t0013g0069 a0002c0003t0004g0072	30	382	0.0785	25	c.14 others(36): Show c.1491_*1515dupAGATGGAGTCTTATTCTGTCGCCCA	MAD2L1	ENSG00000164109.14	transcript	ENST00000296509.11	protein_coding	5/5	1515		chr4	TogoVar
MAGED4B_chrX_52056827_52074183	52060553	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	25	c.14 others(36): Show c.1475_*1476insACACACACACACACACACACACACA	MAGED4B	ENSG00000187243.17	transcript	ENST00000335504.10	protein_coding		1273		chrX	TogoVar
MAGED4_chrX_52179888_52197268	52193536	A A	AACACACA others(18): Show AACACACACACACACACACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0046	25	c.14 others(36): Show c.1470_*1471insACACACACACACACACACACACACC	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding		1269		chrX	TogoVar
MAGEH1_chrX_55447127_55458566	55448805	G G	GGAGTGTA others(18): Show GGAGTGTAAATTAGTTCAACCATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	304	0.0033	25	c.-35 others(36): Show c.-3570_-3569insGAGTGTAAATTAGTTCAACCATTGT	MAGEH1	ENSG00000187601.5	transcript	ENST00000342972.3	protein_coding		3321		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01891.hp1 others(2): Show HG01167.hp2 HG01884.hp1 HG01891.hp1 HG02486.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0001c0001t0001 a0001c0001t0006 a0003c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0006g0005 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0006g0005 a0003c0003t0001g0081 a0003c0003t0001g0099	5	104	0.0481	25	c.220 others(44): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65548511	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	104	0.0096	25	c.431 others(44): Show c.431-54905_431-54881dupAAAAAAAAAAAAAAAAAAAAAAAAA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65680795	T T	TATGATAT others(18): Show TATGATATGATATGATATGATATATG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	104	0.0096	25	c.314 others(44): Show c.314-58708_314-58707insCATATATCATATCATATCATATCAT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65987702	C C	CTCCCACT others(18): Show CTCCCACTTCAGCCTCCCCAGTAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp2 others(60): Show HG00140.hp1 HG00140.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0003c0009 a0004c0004 a0005c0006 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0003c0003t0001 a0003c0003t0002 a0003c0009t0001 a0004c0004t0001 a0004c0004t0012 a0005c0006t0001 a0007c0007t0003 a0008c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(60): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0002g0024 a0001c0001t0003g0029 a0001c0001t0003g0046 a0001c0001t0006g0005 a0001c0001t0011g0102 a0001c0005t0001g0006 a0001c0005t0001g0027 a0001c0005t0001g0043 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0002g0041 a0002c0002t0002g0084 a0002c0002t0003g0017 a0002c0002t0003g0050 a0002c0002t0007g0066 a0002c0002t0010g0013 a0003c0003t0001g0012 a0003c0003t0002g0008 a0003c0003t0002g0020 a0003c0003t0002g0074 a0003c0003t0002g0080 a0003c0009t0001g0025 a0004c0004t0001g0073 a0004c0004t0001g0090 a0004c0004t0012g0103 a0005c0006t0001g0054 a0005c0006t0001g0095 a0007c0007t0003g0062 a0008c0010t0001g0067	63	104	0.6058	25	c.313 others(44): Show c.313+50293_313+50294insAGCTACTGGGGAGGCTGAAGTGGGA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78649222	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 HG03579.hp2 others(1): Show HG02451.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0026 others(1): Show a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0003t0002g0004	4	40	0.1000	25	c.419 others(44): Show c.419-21984_419-21983insTTTTTTTTTTTTTTTTTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79171770	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	40	0.0250	25	c.302 others(46): Show c.302-164565_302-164564insAAAAAAAAAAAAAAATATATATAT A	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CACATATA others(18): Show CACATATATATATATATGTGACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 NA18522.hp2 others(1): Show HG02451.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0001t0002g0013 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0005t0001g0005	4	40	0.1000	25	c.301 others(44): Show c.301+85161_301+85162insATGTGTCACATATATATATATATGT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79399095	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0017 a0001c0004t0001g0016 a0001c0001t0001g0017 a0001c0004t0001g0016	2	40	0.0500	25	c.301 others(44): Show c.301+53924_301+53925insAAAAAAAAAAAAAAAAAAAAAAAAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416007	T T	TATATTAA others(18): Show TATATTAATTATGTAATTAATTACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	236	0.0042	25	c.316 others(44): Show c.316+24678_316+24679insTACACATATTAATTATGTAATTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416024	T T	TAATTACA others(18): Show TAATTACACATATTAATTATGTAATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0132 a0001c0002t0006g0132	1	236	0.0042	25	c.316 others(44): Show c.316+24678_316+24679insTACACATATTAATTATGTAATGAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113484713	C C	CTCCCTTC others(18): Show CTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01099.hp1 others(6): Show HG00642.hp1 HG00738.hp2 HG01099.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 NA18947.hp1 NA19058.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0140 a0001c0001t0001g0184 a0001c0001t0002g0159 others(6): Show a0001c0001t0001g0140 a0001c0001t0001g0184 a0001c0001t0002g0159 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0225 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0229	9	236	0.0381	25	c.317 others(44): Show c.317-64793_317-64769dupCTTCCCTTCCCTTCCCTTCCCTTCC	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MALL_chr2_110078870_110120822	110079468	G G	GCAGCACA others(18): Show GCAGCACAGCACAGCACAGCAGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	335	0.0030	25	c.62 others(36): Show c.6226_*6227insTGCTCTGCTGTGCTGTGCTGTGCTG	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding		4401		chr2	TogoVar
MALRD1_chr10_19043801_19739478	19163137	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0107 a0018c0017t0001g0107	1	152	0.0066	25	c.165 others(44): Show c.1657-2496_1657-2472dupAAAAAAAAAAAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0044 a0044	a0044c0114 a0044c0114	a0044c0114t0002 a0044c0114t0002	a0044c0114t0002g0076 a0044c0114t0002g0076	1	152	0.0066	25	c.165 others(42): Show c.1657-395_1657-394insTATATATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19176366	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0097 a0097	a0097c0102 a0097c0102	a0097c0102t0001 a0097c0102t0001	a0097c0102t0001g0098 a0097c0102t0001g0098	1	152	0.0066	25	c.195 others(44): Show c.1951+1057_1951+1058insTTTTTTTTTTTTTTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306061	C C	CTATACTA others(18): Show CTATACTATATATACTATATACTATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02572.hp1 HG03209.hp1 others(4): Show HG00741.hp1 HG02572.hp1 HG03209.hp1 HG06807.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0013 a0014 a0048 others(4): Show a0013 a0014 a0048 a0051 a0073 a0077 a0078	a0013c0067 a0014c0068 a0048c0117 others(4): Show a0013c0067 a0014c0068 a0048c0117 a0051c0037 a0073c0031 a0077c0086 a0078c0087	a0013c0067t0001 a0014c0068t0001 a0048c0117t0002 others(4): Show a0013c0067t0001 a0014c0068t0001 a0048c0117t0002 a0051c0037t0001 a0073c0031t0001 a0077c0086t0002 a0078c0087t0003	a0013c0067t0001g0003 a0014c0068t0001g0079 a0048c0117t0002g0088 others(4): Show a0013c0067t0001g0003 a0014c0068t0001g0079 a0048c0117t0002g0088 a0051c0037t0001g0121 a0073c0031t0001g0136 a0077c0086t0002g0074 a0078c0087t0003g0106	7	152	0.0461	25	c.342 others(46): Show c.3420-17876_3420-17852dupTACTATATACTATATATACTATAT A	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306075	C C	CTATATAC others(18): Show CTATATACTATATATACTATATACTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01975.hp2 others(15): Show HG01081.hp1 HG01123.hp1 HG01975.hp2 HG02132.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG03098.hp1 HG03669.hp1 HG03710.hp1 NA18957.hp2 NA18960.hp1 NA18981.hp2 NA18988.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0006 a0016 a0023 others(9): Show a0006 a0016 a0023 a0024 a0025 a0028 a0042 a0064 a0070 a0079 a0093 a0094	a0006c0004 a0006c0024 a0016c0038 others(12): Show a0006c0004 a0006c0024 a0016c0038 a0023c0060 a0023c0112 a0024c0113 a0025c0013 a0028c0097 a0028c0098 a0042c0090 a0064c0059 a0070c0080 a0079c0088 a0093c0099 a0094c0100	a0006c0004t0001 a0006c0024t0001 a0016c0038t0001 others(13): Show a0006c0004t0001 a0006c0024t0001 a0016c0038t0001 a0023c0060t0001 a0023c0112t0001 a0024c0113t0001 a0025c0013t0001 a0025c0013t0002 a0028c0097t0001 a0028c0098t0001 a0042c0090t0001 a0064c0059t0001 a0070c0080t0001 a0079c0088t0001 a0093c0099t0001 a0094c0100t0001	a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0004t0001g0133 others(15): Show a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0004t0001g0133 a0006c0024t0001g0127 a0016c0038t0001g0120 a0023c0060t0001g0027 a0023c0112t0001g0037 a0024c0113t0001g0038 a0025c0013t0001g0118 a0025c0013t0002g0066 a0028c0097t0001g0104 a0028c0098t0001g0040 a0042c0090t0001g0128 a0064c0059t0001g0151 a0070c0080t0001g0058 a0079c0088t0001g0013 a0093c0099t0001g0048 a0094c0100t0001g0143	18	152	0.1184	25	c.342 others(46): Show c.3420-17873_3420-17849dupTATATACTATATATACTATATACT A	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306104	A A	ATACTATA others(18): Show ATACTATATATACTATATACTATATT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0024 a0024	a0024c0061 a0024c0061	a0024c0061t0001 a0024c0061t0001	a0024c0061t0001g0132 a0024c0061t0001g0132	1	152	0.0066	25	c.342 others(46): Show c.3420-17845_3420-17844insTACTATATATACTATATACTATAT T	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0066 a0066	a0066c0082 a0066c0082	a0066c0082t0001 a0066c0082t0001	a0066c0082t0001g0144 a0066c0082t0001g0144	1	152	0.0066	25	c.444 others(44): Show c.4441+3561_4441+3562insATATATATATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02004.hp2 HG03041.hp2 HG01975.hp2 HG02004.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0017 a0003c0004t0036 a0001c0001t0003 a0003c0004t0017 a0003c0004t0036	a0001c0001t0003g0137 a0003c0004t0017g0031 a0003c0004t0036g0114 a0001c0001t0003g0137 a0003c0004t0017g0031 a0003c0004t0036g0114	3	230	0.0130	25	c.514 others(44): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02738.hp1 HG02145.hp2 HG02559.hp2 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0043 a0001c0002t0002 a0001c0002t0020 a0001c0002t0043	a0001c0002t0002g0039 a0001c0002t0020g0107 a0001c0002t0043g0104 a0001c0002t0002g0039 a0001c0002t0020g0107 a0001c0002t0043g0104	3	230	0.0130	25	c.514 others(44): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(18): Show CAACAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03492.hp1 HG01081.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0003 a0003c0006t0006 a0001c0002t0003 a0003c0006t0006	a0001c0002t0003g0149 a0003c0006t0006g0106 a0001c0002t0003g0149 a0003c0006t0006g0106	2	230	0.0087	25	c.513 others(46): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTTTTTTTTGT T	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	230	0.0044	25	c.513 others(44): Show c.513+42322_513+42323insATATATATATATATATATATATATA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar

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