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
LRRTM3_chr10_66921036_67106551	66996649	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	294	0.0034	37	c.153 others(58): Show c.1536+68219_1536+68220insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM4_chr2_76742685_77527376	77307997	T T	TCTATATA others(30): Show TCTATATATTATAGAAATATAAATATATAGATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	128	0.0078	37	c.155 others(60): Show c.1551+210320_1551+210321insTTATATATCTATATATTTATAT TTCTATAATATATAG	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSAMP_chr3_115797374_116450487	116164760	A A	ATATATAT others(30): Show ATATATATATCCATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0092 a0001c0001t0014g0092	1	104	0.0096	37	c.156 others(56): Show c.156-78205_156-78204insATATATATATATATATATATATATAT GGATATATATA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0082	a0002c0002t0082g0227 a0002c0002t0082g0227	1	408	0.0025	37	c.227 others(54): Show c.227-1371_227-1370insATATATATATATATATATATATATTTTT TTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0084 a0002c0002t0084	a0002c0002t0084g0226 a0002c0002t0084g0226	1	408	0.0025	37	c.227 others(54): Show c.227-1371_227-1370insATATATATATATATATATATATATATTT TTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0225 a0002c0002t0044g0225	1	408	0.0025	37	c.227 others(54): Show c.227-1371_227-1370insATATATATATATATATATATATATATAT TTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSM8_chr7_118179164_118209035	118201550	A A	AATCGTAC others(30): Show AATCGTACAATCATAAAAAAATCTCAAGATTAATTCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0015 a0001c0001t0050g0015	1	414	0.0024	37	c.95 others(48): Show c.9548_*9549insATCGTACAATCATAAAAAAATCTCAAGATTAATT CAT	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding	4/4	9549		chr7	TogoVar
LTK_chr15_41498637_41518827	41514940	A A	ACAAACCT others(30): Show ACAAACCTACACATGTACCTCCTGTATCTAAAAAGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0010 a0004c0004t0001g0010	1	430	0.0023	37	c.-12 others(48): Show c.-1232_-1231insCAACTTTTTAGATACAGGAGGTACATGTGTAGGT TTG	LTK	ENSG00000062524.16	transcript	ENST00000263800.11	protein_coding		1114		chr15	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0015 a0001c0004t0007g0015	1	404	0.0025	37	c.29 others(48): Show c.2946_*2947insAAAAATATATATATATATATATATATATATATAT ATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0272 a0001c0004t0001g0272	1	404	0.0025	37	c.29 others(48): Show c.2946_*2947insAAAAAAAAAAATATATATATATATATATATATAT ATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LUC7L_chr16_183990_234449	186628	G G	GGGAGGAA others(30): Show GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	350	0.0029	37	c.25 others(48): Show c.2569_*2570insTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2361		chr16	TogoVar
LUC7L_chr16_183990_234449	186680	G G	GAGGAACA others(30): Show GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	350	0.0029	37	c.25 others(48): Show c.2517_*2518insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2309		chr16	TogoVar
LUC7L_chr16_183990_234449	186731	G G	GGAGGAAC others(30): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	350	0.0029	37	c.24 others(48): Show c.2466_*2467insTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2258		chr16	TogoVar
LUC7L_chr16_183990_234449	186816	G G	GGGAACAG others(30): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	350	0.0029	37	c.23 others(48): Show c.2381_*2382insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2173		chr16	TogoVar
LURAP1L_chr9_12770020_12828060	12786547	C C	CTATATAT others(30): Show CTATATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0144 a0003c0003t0001g0144	1	418	0.0024	37	c.312 others(56): Show c.312+10520_312+10521insTATATATATATATATATATATATATA TGTATATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1			chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12786547	C C	CTATATAT others(30): Show CTATATATATATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	418	0.0024	37	c.312 others(56): Show c.312+10520_312+10521insTATATATATATATATATATATATATA TGTGTATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1			chr9	TogoVar
LYPD5_chr19_43790927_43807447	43802196	T T	TCAGGCCC others(30): Show TCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp2 others(73): Show HG00140.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp1 NA19078.hp2 NA19083.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0006 a0002c0005 others(1): Show a0001c0004 a0001c0006 a0002c0005 a0005c0009	a0001c0004t0003 a0001c0004t0004 a0001c0004t0016 others(4): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0016 a0001c0006t0004 a0002c0005t0010 a0002c0005t0011 a0005c0009t0004	a0001c0004t0003g0018 a0001c0004t0004g0003 a0001c0004t0004g0007 others(15): Show a0001c0004t0003g0018 a0001c0004t0004g0003 a0001c0004t0004g0007 a0001c0004t0004g0017 a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0041 a0001c0004t0004g0047 a0001c0004t0016g0042 a0001c0006t0004g0014 a0002c0005t0010g0044 a0002c0005t0010g0045 a0002c0005t0010g0046 a0002c0005t0011g0024 a0002c0005t0011g0043 a0005c0009t0004g0040	76	428	0.1776	37	c.64+ others(50): Show c.64+120_64+121insGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTG	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding	1/4			chr19	TogoVar
LYPD8_chr1_248734415_248760759	248753488	T T	TCACACAA others(30): Show TCACACAACACACAACACAACACACACATCACACACCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01978.hp2 others(1): Show HG00099.hp2 HG00323.hp2 HG01978.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0134	4	374	0.0107	37	c.-50 others(54): Show c.-50+1714_-50+1750dupGGGTGTGTGATGTGTGTGTTGTGTTGTG TGTTGTGTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPLA1_chr8_54041367_54106947	54092233	G G	GAAGGAGA others(30): Show GAAGGAGAAAGAGGAAGAGAAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	306	0.0033	37	c.101 others(54): Show c.101+8674_101+8675insTCTCCTCCTCCTCCTCCTTCTCTTCCTC TTTCTCCTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYRM2_chr6_89627224_89643747	89640459	A A	AGAAATGT others(30): Show AGAAATGTTTTGTATCATTTCCCTCCAAATCATCTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	394	0.0025	37	c.-17 others(48): Show c.-1744_-1743insACAAGATGATTTGGAGGGAAATGATACAAAACAT TTC	LYRM2	ENSG00000083099.11	transcript	ENST00000523377.2	protein_coding		1713		chr6	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG03492.hp2 NA18966.hp1 others(1): Show HG01123.hp1 HG03492.hp2 NA18966.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0025 a0001c0001t0025 a0002c0002t0025	a0001c0001t0025g0044 a0001c0001t0025g0141 a0002c0002t0025g0092 a0001c0001t0025g0044 a0001c0001t0025g0141 a0002c0002t0025g0092	4	344	0.0116	37	c.64 others(46): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYZL2_chr10_30606779_30634753	30611718	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	456	0.0022	37	c.23 others(46): Show c.236_*237insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		60		chr10	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02602.hp2 HG02630.hp1 others(1): Show HG01123.hp2 HG02602.hp2 HG02630.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(1): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133	4	360	0.0111	37	c.-11 others(56): Show c.-114+2761_-114+2797dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19072.hp2 HG03540.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	360	0.0056	37	c.-11 others(56): Show c.-114+2765_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18961.hp1 NA19070.hp1 NA18956.hp2 NA18961.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	3	360	0.0083	37	c.-11 others(56): Show c.-114+2769_-114+2805dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1996281	C C	CTATACAC others(30): Show CTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04115.hp1 HG01099.hp2 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0099 a0001c0004t0003g0118 a0001c0004t0001g0099 a0001c0004t0003g0118	2	264	0.0076	37	c.141 others(56): Show c.1416+5783_1416+5784insAACCCGGGGGACCCTGCCCGCCCAGG AGCCGTGTATA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2156207	C C	CGGTTTCA others(30): Show CGGTTTCACGGCGCGCGTGGCGAGGGGAGCGGGCGCAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp1 others(6): Show HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0009 a0001c0001 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0004t0001 a0002c0009t0001 a0001c0001t0001 a0001c0004t0001 a0002c0009t0001	a0001c0001t0001g0163 a0001c0004t0001g0092 a0001c0004t0001g0093 others(6): Show a0001c0001t0001g0163 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0002c0009t0001g0096	9	264	0.0341	37	c.987 others(54): Show c.987-6970_987-6969insATGCGCCCGCTCCCCTCGCCACGCGCGC CGTGAAACC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2165579	G G	GGGAAACG others(30): Show GGGAAACGTGGTCCAGGGGAGAGGGGACTCTGCGCCGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00642.hp1 others(45): Show HG00140.hp2 HG00544.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02145.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18973.hp1 NA18975.hp1 NA19064.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0002c0005t0001 a0002c0009t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(45): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0243 a0001c0001t0002g0103 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0003t0001g0095 a0001c0003t0001g0132 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0006t0001g0158 a0002c0005t0001g0240 a0002c0009t0001g0096	48	264	0.1818	37	c.987 others(56): Show c.987-16378_987-16342dupACGGCGCAGAGTCCCCTCTCCCCTGG ACCACGTTTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(30): Show TCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	388	0.0026	37	c.456 others(54): Show c.456+1538_456+1574dupCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317138	C C	CCCAGGCC others(30): Show CCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0057 a0001c0002t0001g0032 a0001c0002t0001g0057	2	388	0.0052	37	c.456 others(54): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1317167	G G	GACTCACC others(30): Show GACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02523.hp2 HG02148.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0133 a0001c0001t0001g0151	2	388	0.0052	37	c.456 others(54): Show c.456+1574_456+1575insCCCAGGCCCACCCCGGCCCCCACACTCC ACACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317176	G G	GCAGGCCC others(30): Show GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	388	0.0026	37	c.456 others(54): Show c.456+1612_456+1613insCCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317219	T T	TCACCCCA others(30): Show TCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03516.hp2 HG02895.hp1 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0001 a0001c0002t0001 a0001c0014t0001	a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0014t0001g0298 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0014t0001g0298	3	388	0.0077	37	c.456 others(54): Show c.456+1649_456+1685dupCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317256	C C	CCACCCCA others(30): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	388	0.0026	37	c.456 others(54): Show c.456+1685_456+1686insCGCAGGCTCACCCCAGCCCCCACACTCC AGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	104	0.0096	37	c.220 others(56): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI3_chr1_113385515_113690923	113436568	T T	TTTAATTA others(30): Show TTTAATTAAAATGGAAAGGATATTATTTAACCATTGAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	236	0.0042	37	c.316 others(56): Show c.316+45220_316+45256dupTTAATTAAAATGGAAAGGATATTATT TAACCATTGAG	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113641071	T T	TAATATAT others(30): Show TAATATATATGAGATATATATTATATATATGATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18967.hp2 NA20752.hp2 HG02056.hp2 NA18967.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0102 a0001c0001t0003g0124 a0001c0001t0003g0065 a0001c0001t0003g0102 a0001c0001t0003g0124	3	236	0.0127	37	c.136 others(54): Show c.1361-782_1361-746dupTATATATATGATATATAAATATATATGA GATATATAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGOHB_chr12_10599193_10618609	10611287	A A	ATGCTTCT others(30): Show ATGCTTCTGGATCAAAGTTGATGAGTTTGTTAGCTAGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	380	0.0026	37	c.95- others(50): Show c.95-644_95-608dupACTAGCTAACAAACTCATCAACTTTGATCCAG AAGCA	MAGOHB	ENSG00000111196.10	transcript	ENST00000320756.7	protein_coding	1/4			chr12	TogoVar
MALRD1_chr10_19043801_19739478	19148788	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0012 a0012	a0012c0041 a0012c0041	a0012c0041t0004 a0012c0041t0004	a0012c0041t0004g0063 a0012c0041t0004g0063	1	152	0.0066	37	c.155 others(56): Show c.1558+2445_1558+2446insAAAAAAATATATATATATATATATAT ATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165266	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0014 a0014	a0014c0068 a0014c0068	a0014c0068t0001 a0014c0068t0001	a0014c0068t0001g0079 a0014c0068t0001g0079	1	152	0.0066	37	c.165 others(54): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39			chr10	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	250	0.0040	37	c.540 others(56): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	250	0.0040	37	c.540 others(56): Show c.540+26182_540+26183insATATATATATATATATATATATATAT TTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25656095	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0148 a0003c0007t0001g0148	1	250	0.0040	37	c.541 others(56): Show c.541-30323_541-30322insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579116	A A	ACCACCAC others(30): Show ACCACCACCACCACCACCACCATCACCACCACCACCCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	362	0.0028	37	c.391 others(52): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCT	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18			chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(30): Show CCACCACCACCATCACCACCACCACCCTTCACCACCAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	362	0.0028	37	c.391 others(52): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MANSC1_chr12_12321056_12355242	12323133	G G	GGGAGGGG others(30): Show GGGAGGGGGAGGGGAAGGGAGGGGGATGGGAGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0094 a0001c0004t0008g0094	1	322	0.0031	37	c.68 others(48): Show c.6893_*6894insTCTCCCCTCCCATCCCCCTCCCTTCCCCTCCCCC TCC	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding		2922		chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185454556	C C	CATATATA others(30): Show CATATATATGATATATATGATATATATATGATATATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 NA18971.hp2 others(1): Show HG01109.hp2 HG02486.hp2 NA18971.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0051 a0001c0001t0003 a0001c0001t0004 a0001c0001t0051	a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0004g0120 others(1): Show a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0004g0120 a0001c0001t0051g0196	4	278	0.0144	37	c.127 others(56): Show c.1278+3172_1278+3208dupTATATATGATATATATATGATATATA GATATATATGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19514736	T T	TAGGAGGG others(30): Show TAGGAGGGGAGGGGGACGAGGGGGAGGGGAGGGGGACG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG06807.hp1 HG01884.hp2 HG02055.hp1 HG06807.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0023 a0003c0004 a0009c0019 a0002c0023 a0003c0004 a0009c0019	a0002c0023t0011 a0003c0004t0001 a0009c0019t0002 a0002c0023t0011 a0003c0004t0001 a0009c0019t0002	a0002c0023t0011g0002 a0003c0004t0001g0147 a0009c0019t0002g0148 a0002c0023t0011g0002 a0003c0004t0001g0147 a0009c0019t0002g0148	3	163	0.0184	37	c.361 others(52): Show c.361+164_361+165insCGTCCCCCTCCCCTCCCCCTCGTCCCCCTC CCCTCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19514736	T T	TAGGAGGG others(30): Show TAGGAGGGGAGGGGGACGAGGGGGAGGGGAGGGGGATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0153 a0002c0002t0018g0153	1	163	0.0061	37	c.361 others(52): Show c.361+164_361+165insCATCCCCCTCCCCTCCCCCTCGTCCCCCTC CCCTCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	334	0.0030	37	c.160 others(56): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATATTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar

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