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

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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
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(41): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02155.hp1 HG02155.hp2 others(1): Show HG01109.hp1 HG02155.hp1 HG02155.hp2 NA18952.hp2	a0004 a0022 a0004 a0022	a0004c0004 a0022c0024 a0004c0004 a0022c0024	a0004c0004t0001 a0004c0004t0012 a0022c0024t0003 a0004c0004t0001 a0004c0004t0012 a0022c0024t0003	a0004c0004t0001g0072 a0004c0004t0001g0135 a0004c0004t0012g0019 others(1): Show a0004c0004t0001g0072 a0004c0004t0001g0135 a0004c0004t0012g0019 a0022c0024t0003g0058	4	176	0.0227	48	c.130 others(67): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113061809	T T	TCCCCCTT others(41): Show TCCCCCTTTCCCCTCCCTTCCCTCTCCCCCTTCCCCTCCCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	116	0.0086	48	c.489 others(65): Show c.489+1104_489+1105insTCCCCTCCCTTCCCTCTCCCCCTTCCCC TCCCCTCCCTCTCCCCCCTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113091619	G G	GCCGACCC others(41): Show GCCGACCCGGACCCTCCTTTCCCGGGGCTGACGAGGCCGAGCTCCCTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18950.hp2 HG02300.hp1 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0012 a0003c0009t0010 a0001c0001t0012 a0003c0009t0010	a0001c0001t0012g0055 a0003c0009t0010g0115 a0001c0001t0012g0055 a0003c0009t0010g0115	2	116	0.0172	48	c.295 others(67): Show c.2953+1918_2953+1919insTGACGAGGCCGAGCTCCCTGTCCGAC CCGGACCCTCCTTTCCCGGGGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM5_chr22_35395140_35430431	35416462	C C	CTCAGGCT others(41): Show CTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGCCTAGTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0070 a0001c0010t0012g0070	1	404	0.0025	48	c.141 others(65): Show c.1413+103_1413+104insTATTCAGGCTGCCCTGATTGGGACCAAG TTCTCTTTGCCCAGGCCTAG	MCM5	ENSG00000100297.16	transcript	ENST00000216122.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
MCM9_chr6_118808455_118940159	118843642	A A	ATATATAT others(41): Show ATATATATATATATATATACACGTATATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19009.hp1 HG02027.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0324 a0001c0001t0001g0325	2	348	0.0058	48	c.132 others(69): Show c.1325+12728_1325+12729insCACGTATATATATATATATATATA TACGTGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843642	A A	ATATATAT others(41): Show ATATATATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02155.hp2 HG00609.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	348	0.0058	48	c.132 others(69): Show c.1325+12728_1325+12729insCACGTATATATATATATATATACG TGTATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(41): Show ATATATATATATATATATACACACGTATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	348	0.0029	48	c.132 others(69): Show c.1325+12726_1325+12727insCACGTATATATATATATATATATA CGTGTGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(41): Show ATATATATATATATATATATACACGTATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0180 a0008c0011t0001g0180	1	348	0.0029	48	c.132 others(69): Show c.1325+12726_1325+12727insCACGTATATATATATATATATATA CGTGTATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(41): Show ATATATATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00738.hp2 others(15): Show HG00423.hp2 HG00558.hp1 HG00738.hp2 HG01496.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02273.hp2 NA18747.hp1 NA18964.hp1 NA18990.hp2 NA19012.hp2 NA19056.hp1 NA19077.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0243 others(15): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0243 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0207	18	348	0.0517	48	c.132 others(69): Show c.1325+12726_1325+12727insCACGTATATATATATATATATACG TGTATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(41): Show ATATATATATATGTATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	348	0.0029	48	c.132 others(69): Show c.1325+12726_1325+12727insCACGTATATATATATATATATACG TGTATATATATACATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843646	A A	ATATATAT others(41): Show ATATATATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	348	0.0029	48	c.132 others(69): Show c.1325+12724_1325+12725insCACGTATATATATATATATATACG TGTATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(41): Show ATATATACACGTATATATATATATATATATACACGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	348	0.0029	48	c.132 others(69): Show c.1325+12716_1325+12717insCATATATATATACACGTGTATATA TATATATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(41): Show ATATATACACGTATATATATATATATATATACGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG00741.hp2 others(9): Show HG00423.hp1 HG00735.hp1 HG00741.hp2 HG01975.hp2 HG02129.hp1 HG02155.hp1 NA18980.hp1 NA18995.hp2 NA18998.hp2 NA19060.hp2 NA19077.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0021 a0003c0004t0002g0022 others(8): Show a0003c0004t0002g0003 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0023 a0003c0004t0002g0024 a0003c0004t0002g0025 a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0052 a0003c0004t0002g0053 a0003c0004t0002g0076	12	348	0.0345	48	c.132 others(69): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(41): Show ATATATACACGTATATATATATATATATATATACGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0047 a0004c0006t0002g0047	1	348	0.0029	48	c.132 others(69): Show c.1325+12716_1325+12717insCATATATATATACACGTATATATA TATATATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(41): Show ATATATACGTGTATATATATATATATATATATACGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02647.hp1 others(1): Show HG02055.hp1 HG02280.hp1 HG02647.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(1): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046	4	348	0.0115	48	c.132 others(69): Show c.1325+12716_1325+12717insCATATATATATACACGTATATATA TATATATATATATACACGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	350	0.0029	48	c.42 others(59): Show c.4246_*4247insTATATATATATATATATATATATATATACACACA CACACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 NA18971.hp2 HG01106.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0305 a0001c0001t0007g0063 a0001c0001t0006g0305 a0001c0001t0007g0063	2	350	0.0057	48	c.42 others(59): Show c.4246_*4247insTATATATATATATATATATATATATACACACACA CACACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987657	C C	CGTATGTA others(41): Show CGTATGTATATAGAAATATATACATACATATGTATATAGAAATATACAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	350	0.0029	48	c.77+ others(63): Show c.77+9138_77+9139insATGTATATTTCTATATACATATGTATGTAT ATATTTCTATATACATAC	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987659	T T	TATGTATA others(41): Show TATGTATATAGAAATATATACATACATATGTATATAGAAATATACATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00609.hp2 others(54): Show HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02300.hp2 HG03017.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19001.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0033 a0006c0006t0003	a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0235 others(52): Show a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0259 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0290 a0001c0001t0003g0324 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0283 a0001c0001t0006g0287 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0010g0258 a0001c0001t0010g0261 a0001c0001t0010g0263 a0001c0001t0011g0331 a0001c0001t0011g0332 a0001c0001t0011g0333 a0001c0001t0011g0334 a0001c0001t0011g0335 a0001c0001t0012g0256 a0001c0001t0012g0268 a0001c0001t0013g0026 a0001c0001t0033g0282 a0006c0006t0003g0327	57	350	0.1629	48	c.77+ others(63): Show c.77+9136_77+9137insGTATGTATATTTCTATATACATATGTATGT ATATATTTCTATATACAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	98	0.0102	48	c.982 others(65): Show c.982-5151_982-5150insCTCTCTCTCTCTATATATATATATATAT ATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94954113	A A	AATATATA others(41): Show AATATATATACAAATATATATATGCATATATATACAAATATATATATGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03704.hp1 HG02135.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0006 a0001c0002t0001 a0001c0004t0006	a0001c0002t0001g0063 a0001c0004t0006g0019 a0001c0002t0001g0063 a0001c0004t0006g0019	2	98	0.0204	48	c.839 others(63): Show c.839-753_839-752insGCATATATATATTTGTATATATATGCATAT ATATATTTGTATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94390098	A A	ATATATAT others(41): Show ATATATATGTATATATATATGTATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0027 a0002c0012t0027	a0002c0012t0027g0182 a0002c0012t0027g0182	1	276	0.0036	48	c.178 others(67): Show c.1788+4580_1788+4581insGTATATATATATGTATATATATATAT ATGTATATATATATGTATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(41): Show GACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0011 a0001c0013t0007g0011	1	402	0.0025	48	c.68- others(61): Show c.68-784_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACAGACA others(41): Show GACAGACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0353 a0001c0001t0005g0353	1	402	0.0025	48	c.68- others(61): Show c.68-737_68-736insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTCTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	120	0.0083	48	c.181 others(69): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	120	0.0083	48	c.281 others(67): Show c.281-34196_281-34195insGTATGTGTGTATATATATATATATAT ATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0054 a0001c0001t0027g0054	1	120	0.0083	48	c.281 others(67): Show c.281-34196_281-34195insGTATGTGTATATATATATATATATAT ATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18975.hp2 HG01099.hp1 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0009 a0003c0005t0041 a0001c0003t0009 a0003c0005t0041	a0001c0003t0009g0140 a0003c0005t0041g0100 a0001c0003t0009g0140 a0003c0005t0041g0100	2	160	0.0125	48	c.376 others(67): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATATATATATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151141183	T T	TTTTTGTT others(41): Show TTTTTGTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	280	0.0036	48	c.556 others(67): Show c.556+13202_556+13203insTGTTTTTTTTTTTTTTGTTTTTTGTT TTTTTTTTTTTTGTTTTTGTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116124148	G G	GAGAGAGA others(41): Show GAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	254	0.0039	48	c.311 others(67): Show c.311-12637_311-12636insGTCTCTCTCTGTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MEF2B_chr19_19140567_19175263	19150142	A A	AGGAGGGA others(41): Show AGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	404	0.0025	48	c.54+ others(61): Show c.54+539_54+540insCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTCC	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	2/8			chr19	TogoVar
MEGF10_chr5_127285796_127466222	127309994	T T	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0023 a0001c0014t0023	a0001c0014t0023g0040 a0001c0014t0023g0040	1	268	0.0037	48	c.-19 others(67): Show c.-19+18941_-19+18942insTTTCTTTCTTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF6_chr1_3482951_3616508	3583759	G G	GCCACCAG others(41): Show GCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18906.hp2 NA20300.hp1 HG02155.hp2 NA18906.hp2 NA20300.hp1	a0009 a0029 a0009 a0029	a0009c0009 a0029c0118 a0009c0009 a0029c0118	a0009c0009t0012 a0029c0118t0002 a0009c0009t0012 a0029c0118t0002	a0009c0009t0012g0261 a0009c0009t0012g0262 a0029c0118t0002g0048 a0009c0009t0012g0261 a0009c0009t0012g0262 a0029c0118t0002g0048	3	292	0.0103	48	c.377 others(65): Show c.377-3831_377-3830insGTTGTCTGGTGGCTGCGCGTTGTCTGGT GGCTGCGCGTTGTCTGGTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(41): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG02280.hp2 HG03225.hp1	a0040 a0083 a0040 a0083	a0040c0068 a0083c0063 a0040c0068 a0083c0063	a0040c0068t0032 a0083c0063t0058 a0040c0068t0032 a0083c0063t0058	a0040c0068t0032g0274 a0083c0063t0058g0273 a0040c0068t0032g0274 a0083c0063t0058g0273	2	292	0.0069	48	c.377 others(65): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(41): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0114 a0003c0114	a0003c0114t0001 a0003c0114t0001	a0003c0114t0001g0255 a0003c0114t0001g0255	1	292	0.0034	48	c.377 others(65): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEP1A_chr6_46788389_46844778	46824759	T T	TATATATA others(41): Show TATATATAAATTATATATATAAATTATATATTTAAATAGATCTATTTAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	352	0.0028	48	c.557 others(63): Show c.557-500_557-499insATATATAAATTATATATTTAAATAGATCTA TTTAAATATATAAATTAT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090373	A A	ACACACCC others(41): Show ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01515.hp1 others(3): Show HG00597.hp2 HG00609.hp1 HG01515.hp1 NA18986.hp1 NA19012.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015	a0001c0002t0001g0180 a0001c0002t0002g0042 a0001c0002t0003g0260 others(3): Show a0001c0002t0001g0180 a0001c0002t0002g0042 a0001c0002t0003g0260 a0001c0002t0003g0353 a0001c0002t0003g0373 a0001c0002t0015g0171	6	399	0.0150	48	c.557 others(65): Show c.557-2789_557-2788insCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACACCCCCCCACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090477	A A	ACACACCC others(41): Show ACACACCCCCCGCCCCACACACACACACCCCCCCACACACACACCCCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0306 a0001c0001t0009g0306	1	399	0.0025	48	c.557 others(65): Show c.557-2685_557-2684insCCCCCGCCCCACACACACACACCCCCCC ACACACACACCCCCCCACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL8_chr2_171310746_171438990	171363796	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0104 a0001c0003t0058g0104	1	332	0.0030	48	c.144 others(65): Show c.144-3284_144-3283insCATATATATATATATATATATATATATA TATATATATATATATATATA	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	2/9			chr2	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	364	0.0028	48	c.567 others(65): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFSD6_chr2_190403355_190507314	190430867	A A	ACGGGGCG others(41): Show ACGGGGCGGCCGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	344	0.0029	48	c.-53 others(65): Show c.-53-5101_-53-5100insCGGCCGGGCGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGC	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGAGAAG others(41): Show AAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0018 a0014c0014t0001g0018	1	329	0.0030	48	c.-1+ others(63): Show c.-1+2401_-1+2402insGAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCAA others(41): Show ACCCCCAACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(109): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(9): Show a0001 a0003 a0005 a0006 a0008 a0014 a0017 a0022 a0023 a0026 a0028 a0034	a0001c0003 a0003c0004 a0003c0012 others(13): Show a0001c0003 a0003c0004 a0003c0012 a0003c0049 a0005c0017 a0006c0005 a0006c0027 a0008c0008 a0008c0031 a0014c0016 a0017c0023 a0022c0028 a0023c0029 a0026c0030 a0028c0032 a0034c0045	a0001c0003t0001 a0003c0004t0001 a0003c0012t0001 others(15): Show a0001c0003t0001 a0003c0004t0001 a0003c0012t0001 a0003c0049t0002 a0005c0017t0001 a0006c0005t0001 a0006c0005t0002 a0006c0027t0001 a0008c0008t0001 a0008c0031t0001 a0014c0016t0002 a0017c0023t0001 a0017c0023t0002 a0022c0028t0002 a0023c0029t0001 a0026c0030t0001 a0028c0032t0001 a0034c0045t0001	a0001c0003t0001g0118 a0001c0003t0001g0209 a0001c0003t0001g0210 others(109): Show a0001c0003t0001g0118 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0261 a0001c0003t0001g0267 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0285 a0001c0003t0001g0291 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0001g0311 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0326 a0001c0003t0001g0330 a0001c0003t0001g0361 a0003c0004t0001g0124 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0262 a0003c0004t0001g0269 a0003c0004t0001g0277 a0003c0004t0001g0279 a0003c0004t0001g0295 a0003c0004t0001g0296 a0003c0004t0001g0299 a0003c0004t0001g0300 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0307 a0003c0004t0001g0308 a0003c0004t0001g0309 a0003c0004t0001g0310 a0003c0004t0001g0325 a0003c0004t0001g0328 a0003c0004t0001g0329 a0003c0004t0001g0332 a0003c0004t0001g0333 a0003c0004t0001g0337 a0003c0012t0001g0152 a0003c0012t0001g0153 a0003c0012t0001g0154 a0003c0049t0002g0102 a0005c0017t0001g0271 a0005c0017t0001g0313 a0005c0017t0001g0314 a0005c0017t0001g0315 a0005c0017t0001g0348 a0006c0005t0001g0233 a0006c0005t0001g0237 a0006c0005t0002g0228 a0006c0005t0002g0229 a0006c0005t0002g0230 a0006c0005t0002g0231 a0006c0005t0002g0235 a0006c0005t0002g0236 a0006c0005t0002g0238 a0006c0005t0002g0239 a0006c0005t0002g0240 a0006c0005t0002g0242 a0006c0005t0002g0244 a0006c0005t0002g0245 a0006c0005t0002g0250 a0006c0005t0002g0252 a0006c0005t0002g0254 a0006c0005t0002g0255 a0006c0005t0002g0367 a0006c0027t0001g0249 a0008c0008t0001g0263 a0008c0008t0001g0264 a0008c0008t0001g0265 a0008c0008t0001g0266 a0008c0008t0001g0268 a0008c0008t0001g0286 a0008c0008t0001g0287 a0008c0008t0001g0288 a0008c0008t0001g0289 a0008c0008t0001g0290 a0008c0008t0001g0301 a0008c0008t0001g0312 a0008c0008t0001g0327 a0008c0031t0001g0278 a0014c0016t0002g0232 a0014c0016t0002g0243 a0014c0016t0002g0246 a0014c0016t0002g0247 a0014c0016t0002g0248 a0014c0016t0002g0253 a0014c0016t0002g0256 a0017c0023t0001g0251 a0017c0023t0002g0241 a0022c0028t0002g0234 a0023c0029t0001g0298 a0026c0030t0001g0283 a0028c0032t0001g0119 a0034c0045t0001g0006	112	368	0.3044	48	c.213 others(67): Show c.2131-5350_2131-5349insAACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGCAGACCCCCC	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCAA others(41): Show ACCCCCAACCTCCCTCCTGGACGGGGTGGCTGGCCGGGCGGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0284 a0003c0004t0001g0284	1	368	0.0027	48	c.213 others(67): Show c.2131-5350_2131-5349insAACCTCCCTCCTGGACGGGGTGGCTG GCCGGGCGGGGGCAGACCCCCC	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCCA others(41): Show ACCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0123 a0001c0044t0002g0123	1	368	0.0027	48	c.213 others(67): Show c.2131-5338_2131-5337insAGACGGGGTGGCTGGCCGGGCGGGGG CAGACCCCCCCACCTCCCTCCC	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCCA others(41): Show ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGTGGGGGCAGAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0007 a0002c0001t0002g0007	1	368	0.0027	48	c.213 others(67): Show c.2131-5336_2131-5335insACGGGGTGGCTGGCCAGGTGGGGGCA GACCCCCCCACCTCCCTCCCGG	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCCA others(41): Show ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00621.hp2 others(70): Show HG00099.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18974.hp1 NA18978.hp1 NA18998.hp1 NA19009.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19077.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0020 a0025 a0027	a0001c0002 a0001c0003 a0001c0034 others(5): Show a0001c0002 a0001c0003 a0001c0034 a0003c0012 a0005c0007 a0020c0035 a0025c0039 a0027c0038	a0001c0002t0001 a0001c0003t0001 a0001c0034t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0034t0001 a0003c0012t0001 a0003c0012t0002 a0005c0007t0001 a0005c0007t0002 a0020c0035t0001 a0025c0039t0001 a0027c0038t0001	a0001c0002t0001g0106 a0001c0002t0001g0125 a0001c0002t0001g0156 others(70): Show a0001c0002t0001g0106 a0001c0002t0001g0125 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0360 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0216 a0001c0034t0001g0196 a0003c0012t0001g0224 a0003c0012t0002g0170 a0003c0012t0002g0176 a0003c0012t0002g0177 a0003c0012t0002g0178 a0005c0007t0001g0107 a0005c0007t0001g0171 a0005c0007t0001g0173 a0005c0007t0001g0174 a0005c0007t0001g0184 a0005c0007t0001g0191 a0005c0007t0001g0192 a0005c0007t0001g0193 a0005c0007t0001g0195 a0005c0007t0001g0199 a0005c0007t0001g0207 a0005c0007t0001g0208 a0005c0007t0001g0212 a0005c0007t0001g0366 a0005c0007t0002g0183 a0005c0007t0002g0217 a0005c0007t0002g0218 a0020c0035t0001g0188 a0025c0039t0001g0168 a0027c0038t0001g0160	73	368	0.1984	48	c.213 others(67): Show c.2131-5336_2131-5335insACGGGGTGGCTGGCCGGGCGGGGGCA GACCCCCCCACCTCCCTCCCGG	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39285664	A A	ACCCCCCA others(41): Show ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(129): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0007 a0009 a0010 a0011 a0013 a0016 a0019 a0030 a0031 a0032 a0033 a0035	a0001c0026 a0002c0001 a0002c0046 others(16): Show a0001c0026 a0002c0001 a0002c0046 a0002c0048 a0004c0013 a0007c0010 a0007c0018 a0009c0009 a0010c0011 a0011c0019 a0011c0021 a0013c0015 a0016c0022 a0019c0025 a0030c0041 a0031c0042 a0032c0043 a0033c0037 a0035c0047	a0001c0026t0002 a0002c0001t0002 a0002c0046t0002 others(18): Show a0001c0026t0002 a0002c0001t0002 a0002c0046t0002 a0002c0048t0002 a0004c0013t0002 a0007c0010t0002 a0007c0018t0002 a0009c0009t0002 a0010c0011t0001 a0010c0011t0002 a0011c0019t0002 a0011c0021t0002 a0013c0015t0002 a0016c0022t0002 a0016c0022t0003 a0019c0025t0002 a0030c0041t0002 a0031c0042t0002 a0032c0043t0002 a0033c0037t0002 a0035c0047t0002	a0001c0026t0002g0108 a0001c0026t0002g0109 a0002c0001t0002g0008 others(129): Show a0001c0026t0002g0108 a0001c0026t0002g0109 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0011 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0021 a0002c0001t0002g0022 a0002c0001t0002g0023 a0002c0001t0002g0024 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0032 a0002c0001t0002g0033 a0002c0001t0002g0034 a0002c0001t0002g0035 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0040 a0002c0001t0002g0041 a0002c0001t0002g0042 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0046 a0002c0001t0002g0047 a0002c0001t0002g0049 a0002c0001t0002g0052 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0068 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0079 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0083 a0002c0001t0002g0084 a0002c0001t0002g0088 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0099 a0002c0001t0002g0100 a0002c0001t0002g0101 a0002c0046t0002g0097 a0002c0048t0002g0060 a0004c0013t0002g0126 a0004c0013t0002g0128 a0004c0013t0002g0138 a0004c0013t0002g0139 a0007c0010t0002g0127 a0007c0010t0002g0129 a0007c0010t0002g0130 a0007c0010t0002g0131 a0007c0010t0002g0132 a0007c0010t0002g0133 a0007c0010t0002g0134 a0007c0010t0002g0135 a0007c0010t0002g0365 a0007c0018t0002g0292 a0007c0018t0002g0349 a0009c0009t0002g0142 a0009c0009t0002g0143 a0009c0009t0002g0144 a0009c0009t0002g0145 a0009c0009t0002g0146 a0009c0009t0002g0147 a0009c0009t0002g0148 a0009c0009t0002g0149 a0009c0009t0002g0150 a0009c0009t0002g0151 a0009c0009t0002g0362 a0009c0009t0002g0363 a0010c0011t0001g0031 a0010c0011t0002g0017 a0010c0011t0002g0045 a0010c0011t0002g0048 a0010c0011t0002g0051 a0010c0011t0002g0069 a0010c0011t0002g0073 a0010c0011t0002g0077 a0010c0011t0002g0087 a0010c0011t0002g0098 a0011c0019t0002g0018 a0011c0019t0002g0019 a0011c0019t0002g0020 a0011c0019t0002g0078 a0011c0019t0002g0080 a0011c0021t0002g0050 a0011c0021t0002g0074 a0011c0021t0002g0085 a0011c0021t0002g0086 a0013c0015t0002g0012 a0013c0015t0002g0013 a0013c0015t0002g0025 a0013c0015t0002g0038 a0013c0015t0002g0039 a0013c0015t0002g0057 a0013c0015t0002g0066 a0013c0015t0002g0067 a0016c0022t0002g0103 a0016c0022t0002g0104 a0016c0022t0003g0122 a0019c0025t0002g0120 a0019c0025t0002g0121 a0030c0041t0002g0140 a0031c0042t0002g0226 a0032c0043t0002g0141 a0033c0037t0002g0155 a0035c0047t0002g0065	132	368	0.3587	48	c.213 others(67): Show c.2131-5336_2131-5335insACGGGGTGGCTGGCCGGGTGGGGGCA GACCCCCCCACCTCCCTCCCGG	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICALL2_chr7_1429359_1464470	1443999	A A	AGCCAGCG others(41): Show AGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01981.hp1 others(3): Show HG00558.hp1 HG00597.hp1 HG01981.hp1 HG02145.hp1 HG02145.hp2 HG03486.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0024	a0001c0001 a0006c0031 a0007c0029 others(1): Show a0001c0001 a0006c0031 a0007c0029 a0024c0057	a0001c0001t0001 a0006c0031t0003 a0007c0029t0001 others(1): Show a0001c0001t0001 a0006c0031t0003 a0007c0029t0001 a0024c0057t0001	a0001c0001t0001g0138 a0001c0001t0001g0244 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0138 a0001c0001t0001g0244 a0001c0001t0001g0245 a0006c0031t0003g0027 a0007c0029t0001g0026 a0024c0057t0001g0163	6	280	0.0214	48	c.141 others(65): Show c.1418+605_1418+652dupGGGTCTGAGTGGACGCGGGGACAGGTCG CGAGCGGGACCCACGCTGGC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1444021	G G	GACCTGTC others(41): Show GACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03471.hp1 HG01099.hp2 HG03471.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0177 a0013c0021t0001g0183 a0013c0021t0001g0177 a0013c0021t0001g0183	2	280	0.0071	48	c.141 others(65): Show c.1418+630_1418+631insTGCGAGCGGGACCCACGCTGGCGGGTCT GAGTGGACGCGGGGACAGGT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar

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