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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CANT1_chr17_78986716_79014764	79004818	AGTTAGGG others(163): Show AGTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGG GAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGA GCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAG ATGGGAGTTAGGGAGAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0257 a0001c0002t0018g0257	1	394	0.0025	-170	c.-14 others(19): Show c.-147+4676_-147+4845del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CARD6_chr5_40836367_40860354	40851461	GCTGACTT others(163): Show GCTGACTTGCCAGAATGGTGAAAGGAGACTTCCACTTTATTTATATTGTT TCAGCTTTTTGCAGTGAAAATGTAGATTAGACCGGGTGTAGGGGCTTATG TCTATCCTAGCACTTTGGGAGGCTGAGGCAGGCTGATCACTTGAGTCTAG TTCAAGACCAGCCTAGCCAAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19078.hp1 NA19080.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0021 a0001c0001 a0019c0021	a0001c0001t0002 a0019c0021t0002 a0001c0001t0002 a0019c0021t0002	a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 a0019c0021t0002g0128	8	440	0.0182	-170	c.842 others(15): Show c.842-712_842-543del	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2			chr5	TogoVar
CCDC187_chr9_136244973_136309094	136251839	GGGGAAGA others(163): Show GGGGAAGAGCCGGCCACCCACCCGGTCCACCCCGGGAAGGTCCAGGCGAC CGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCC GCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCG GCCGCCCACCTGGTCCACCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0101 a0101	a0101c0209 a0101c0209	a0101c0209t0087 a0101c0209t0087	a0101c0209t0087g0341 a0101c0209t0087g0341	1	400	0.0025	-170	c.15 others(11): Show c.1585_*1754del	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1585		chr9	TogoVar
CCL17_chr16_57399767_57421063	57403246	ATATTATT others(163): Show ATATTATTATCTATAATATATATAATATATATTATTATCTATAATATATA TAATATATATTATTATCTATAATATATATAATATATATTATTATCTATAA TATATATAATATATATATTATAATATATATAACATATATTATATATAATA TATATATTATAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	2	388	0.0052	-170	c.-16 others(11): Show c.-1649_-1480del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1520		chr16	TogoVar
CDH12_chr5_21745673_22858344	22314949	TTTTTTTT others(163): Show TTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAG GCTGGAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAG GTTCATGCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGC CTGCCACCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0024 a0001c0002t0004 a0001c0002t0024	a0001c0002t0004g0008 a0001c0002t0024g0007 a0001c0002t0004g0008 a0001c0002t0024g0007	2	60	0.0333	-170	c.-33 others(21): Show c.-333+90138_-333+90307del	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110313554	GGCAGGCT others(163): Show GGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCC AGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCAC CCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACC CCGGTGCCCCGCGTCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01243.hp2 others(41): Show HG01069.hp1 HG01167.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG03195.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18946.hp2 NA18964.hp2 NA18970.hp2 NA18979.hp1 NA19001.hp2 NA19005.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0015 a0001c0016 a0001c0022 a0001c0025 a0001c0029 a0001c0046 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0035 a0002c0107 a0003c0044 a0003c0118 a0004c0009 a0004c0012 a0005c0020 a0005c0043 a0007c0031 a0007c0060	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 others(33): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0002t0005 a0001c0003t0002 a0001c0003t0003 a0001c0003t0044 a0001c0004t0005 a0001c0004t0040 a0001c0008t0004 a0001c0011t0003 a0001c0011t0008 a0001c0011t0013 a0001c0015t0001 a0001c0015t0002 a0001c0016t0007 a0001c0022t0014 a0001c0025t0002 a0001c0029t0002 a0001c0046t0034 a0002c0006t0001 a0002c0013t0005 a0002c0013t0043 a0002c0017t0002 a0002c0019t0002 a0002c0035t0012 a0002c0107t0033 a0003c0044t0004 a0003c0118t0036 a0004c0009t0001 a0004c0009t0003 a0004c0012t0003 a0005c0020t0002 a0005c0043t0002 a0007c0031t0002 a0007c0060t0015	a0001c0001t0003g0064 a0001c0001t0003g0092 a0001c0001t0006g0074 others(41): Show a0001c0001t0003g0064 a0001c0001t0003g0092 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0002t0004g0275 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0003t0002g0296 a0001c0003t0003g0049 a0001c0003t0044g0242 a0001c0004t0005g0163 a0001c0004t0040g0050 a0001c0008t0004g0285 a0001c0011t0003g0125 a0001c0011t0008g0176 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0015t0001g0227 a0001c0015t0002g0284 a0001c0016t0007g0235 a0001c0022t0014g0037 a0001c0025t0002g0346 a0001c0029t0002g0330 a0001c0046t0034g0007 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0001g0294 a0002c0013t0005g0188 a0002c0013t0043g0016 a0002c0017t0002g0300 a0002c0017t0002g0370 a0002c0019t0002g0303 a0002c0035t0012g0328 a0002c0107t0033g0174 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0118t0036g0139 a0004c0009t0001g0111 a0004c0009t0003g0122 a0004c0012t0003g0077 a0005c0020t0002g0270 a0005c0043t0002g0273 a0007c0031t0002g0364 a0007c0060t0015g0264	44	372	0.1183	-170	c.99+ others(15): Show c.99+5481_99+5650del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587947	CCCCCCGT others(163): Show CCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp2 HG03492.hp1 others(1): Show HG01109.hp1 HG03195.hp2 HG03492.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0007t0006 a0002c0003t0003 a0001c0001t0001 a0001c0007t0006 a0002c0003t0003	a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0007t0006g0161 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0007t0006g0161 a0002c0003t0003g0152	4	348	0.0115	-170	c.928 others(15): Show c.928-718_928-549del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSNK1G2_chr19_1936172_1986338	1967854	CCTCCTCC others(163): Show CCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGG TGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTC AGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACC CTTCAGTTCTGCAGGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0325 a0001c0002t0002g0325	1	382	0.0026	-170	c.-26 others(19): Show c.-265-1644_-265-1475del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132135756	CCCCGGTG others(163): Show CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03516.hp2 HG02723.hp2 HG03516.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0008 a0002c0002t0002 a0004c0004t0008	a0002c0002t0002g0023 a0004c0004t0008g0009 a0002c0002t0002g0023 a0004c0004t0008g0009	2	334	0.0060	-170	c.33 others(11): Show c.3346_*3515del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		837		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135769	TCCTCCCA others(163): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-170	c.33 others(11): Show c.3333_*3502del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		824		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135780	CCCGAGTG others(163): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02559.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0004 a0002c0022t0003 a0002c0002t0004 a0002c0022t0003	a0002c0002t0004g0004 a0002c0022t0003g0035 a0002c0002t0004g0004 a0002c0022t0003g0035	2	334	0.0060	-170	c.33 others(11): Show c.3322_*3491del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		813		chr12	TogoVar
DENND11_chr7_141651728_141707166	141687576	TGCCTCAG others(163): Show TGCCTCAGCCTCCCACGTAGCTGGGATTACAGGCGCATACCAGCACACTC GGCTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAATGCAAGCTCCGCCTC CCAGGTTCATGCCATTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp2 NA18954.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0098 a0001c0001t0002g0108	2	345	0.0058	-170	c.269 others(16): Show c.269-1088_269-919del	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	1/8			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211779	ATGTTTTG others(163): Show ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0133 a0001c0004t0002g0133	1	148	0.0068	-170	c.212 others(21): Show c.2123-33798_2123-33629del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463392	ACATCTCC others(163): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGC ACGCATGTCCTCACTGCACGCATGTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0163 a0001c0004t0049g0163	1	336	0.0030	-170	c.318 others(17): Show c.3187-700_3187-531del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774376	TGTATTCT others(163): Show TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTA TTCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02630.hp2 others(1): Show HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0189 others(1): Show a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0189 a0002c0002t0003g0207	4	420	0.0095	-170	c.364 others(15): Show c.364-512_364-343del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	785648	CCCTCTGA others(163): Show CCCTCTGAGACCGGCCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGCT TCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGCCTCCCTCCTCCCCTCAG GCCCCTCTGAGACCGGCCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGG CCTCCCTCCTCCCCTCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG02071.hp2 others(3): Show HG01071.hp1 HG01361.hp1 HG02071.hp2 HG02074.hp2 HG02895.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0002c0007	a0001c0002t0009 a0001c0003t0001 a0001c0012t0004 others(3): Show a0001c0002t0009 a0001c0003t0001 a0001c0012t0004 a0002c0001t0001 a0002c0001t0007 a0002c0007t0008	a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0012t0004g0036 others(3): Show a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0007g0038 a0002c0007t0008g0040	6	40	0.1500	-170	c.18+ others(17): Show c.18+47872_18+48041del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC2_chr6_480154_698139	515574	AGTCCTAG others(163): Show AGTCCTAGGAGGGAGCGAGAAGCCAGAGTGACCGTAATCATACAACGATT TCCAACAACAAAGGAGAGACGCACACAGCTGGGGCGGTCCTAGGAGGGAG CGAGAAGCCAGAGTGACCGTAATCATACAACGATTTCCAACAACAAAGGA GAGACGCACACAGCTGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	272	0.0037	-170	c.238 others(21): Show c.2381-16044_2381-15875del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133857137	TACACATA others(163): Show TACACATACACGTATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTACCTCTACTTAACCTCCCTGGATGATTGTCTT AGTGTCACATATATATATATATATATATATATATATACACGTATATATAT ATATATATATACACGTATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	102	0.0098	-170	c.173 others(21): Show c.1735-38461_1735-38292del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17			chr7	TogoVar
F7_chr13_113100791_113125685	113107278	TGGGTGTC others(163): Show TGGGTGTCCCAGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGT GTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGG CGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGA GTGTGGGTGTCCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	400	0.0025	-170	c.64+ others(15): Show c.64+1383_64+1552del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108895	TGGGTGTT others(163): Show TGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGC GTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGG CGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGA GTGTGGGTGTTCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02015.hp1 HG02027.hp2 others(11): Show HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 NA18943.hp1 NA18944.hp1 NA18956.hp1 NA18965.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0057 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0231	14	400	0.0350	-170	c.65- others(15): Show c.65-1788_65-1619del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FMN2_chr1_240086883_240480187	240184928	ACTTTCTC others(163): Show ACTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 NA19240.hp1 HG02976.hp1 HG06807.hp1 NA19240.hp1	a0008 a0016 a0008 a0016	a0008c0019 a0016c0011 a0016c0027 a0008c0019 a0016c0011 a0016c0027	a0008c0019t0007 a0016c0011t0001 a0016c0027t0001 a0008c0019t0007 a0016c0011t0001 a0016c0027t0001	a0008c0019t0007g0113 a0016c0011t0001g0159 a0016c0027t0001g0160 a0008c0019t0007g0113 a0016c0011t0001g0159 a0016c0027t0001g0160	3	174	0.0172	-170	c.193 others(19): Show c.1931-3254_1931-3085del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1319588	CAAAATTA others(163): Show CAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGA CCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCA GCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(62): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02300.hp1 HG03927.hp1 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA19005.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA20129.hp2 NA20300.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0005 a0003c0002 a0007c0010 a0002c0005 a0003c0002 a0007c0010	a0002c0005t0002 a0003c0002t0001 a0003c0002t0003 others(5): Show a0002c0005t0002 a0003c0002t0001 a0003c0002t0003 a0003c0002t0004 a0003c0002t0011 a0003c0002t0023 a0003c0002t0024 a0007c0010t0003	a0002c0005t0002g0000 a0003c0002t0001g0000 a0003c0002t0003g0000 others(5): Show a0002c0005t0002g0000 a0003c0002t0001g0000 a0003c0002t0003g0000 a0003c0002t0004g0000 a0003c0002t0011g0000 a0003c0002t0023g0000 a0003c0002t0024g0000 a0007c0010t0003g0000	65	406	0.1601	-170	c.56 others(11): Show c.5673_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4831		chr6	TogoVar
GOLGA8A_chr15_34374068_34442808	34435521	GTAAACAA others(163): Show GTAAACAAGTTAACCAGCAAGCCACAACTTGGGTCTGCGGTGTCAGAGAA AACATGCAAGGTGCAAGAGAATGAGGAGCTGATGGTCACCAGCTTTACCT CCTTCCAGCACCCACTCCTGCTCACACACACTCACACCCCGTGGGACTCA GCCTGCAGCTTCTCCCAGCCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0128 a0008c0008t0128	a0008c0008t0128g0244 a0008c0008t0128g0244	1	245	0.0041	-170	c.-12 others(18): Show c.-1211-220_-1211-51del	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/24			chr15	TogoVar
GPR143_chrX_9720346_9770847	9730207	GACTGTAT others(163): Show GACTGTATATTGGATGTCCCTTGTGCCCTCAACTGCCTTTCTCAGATCCC CTGAAATCTTTGAAGTCCTAGAACTGAAACCCCAACCAGTGGGCACTGAG CATGAACCATAGAAAACATGACACCTGGCCCAACTCCACTTCAAGGTGTT AAATTTGATCTCGCCAGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(122): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0004 a0001c0001 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0004c0005t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0177 a0001c0001t0008g0115 a0004c0005t0001g0198 a0005c0004t0001g0173	125	270	0.4630	-170	c.112 others(19): Show c.1121-4537_1121-4368del	GPR143	ENSG00000101850.13	transcript	ENST00000467482.6	protein_coding	8/8			chrX	TogoVar
GRIN1_chr9_137134154_137173756	137145044	GGGGGTCC others(163): Show GGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGTG AGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGGAC CGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTG TGGGGACCGGGGTGAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	298	0.0034	-170	c.394 others(15): Show c.394-677_394-508del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145054	GGGTCCAG others(163): Show GGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGG GGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGTGAGA GGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGG GGTGAGAGGAAGGGGGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	298	0.0034	-170	c.394 others(15): Show c.394-669_394-500del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145076	GGGGTGGG others(163): Show GGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGT CCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAG AAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAG GGTCCAGAAAGTGTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0127 a0001c0006t0001g0127	1	298	0.0034	-170	c.394 others(15): Show c.394-646_394-477del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(163): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18972.hp1 NA18973.hp2 others(2): Show NA18945.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0172	5	428	0.0117	-170	c.228 others(16): Show c.228-1039_228-870del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592577	CATGTGTG others(163): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	428	0.0023	-170	c.228 others(16): Show c.228-1067_228-898del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HTT_chr4_3069681_3248957	3227356	TCCCTGTC others(163): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTG AAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCC CTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGC TGAAGGACAGTGCCACCCCTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01243.hp2 others(17): Show HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp2 HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp2	a0014 a0022 a0023 others(10): Show a0014 a0022 a0023 a0026 a0043 a0049 a0069 a0075 a0077 a0083 a0086 a0090 a0092	a0014c0014 a0022c0023 a0023c0039 others(10): Show a0014c0014 a0022c0023 a0023c0039 a0026c0026 a0043c0050 a0049c0063 a0069c0093 a0075c0094 a0077c0102 a0083c0116 a0086c0118 a0090c0126 a0092c0044	a0014c0014t0003 a0014c0014t0010 a0022c0023t0003 others(12): Show a0014c0014t0003 a0014c0014t0010 a0022c0023t0003 a0023c0039t0015 a0023c0039t0016 a0026c0026t0003 a0043c0050t0010 a0049c0063t0011 a0069c0093t0003 a0075c0094t0003 a0077c0102t0029 a0083c0116t0016 a0086c0118t0003 a0090c0126t0003 a0092c0044t0015	a0014c0014t0003g0014 a0014c0014t0003g0015 a0014c0014t0003g0021 others(17): Show a0014c0014t0003g0014 a0014c0014t0003g0015 a0014c0014t0003g0021 a0014c0014t0010g0011 a0022c0023t0003g0013 a0022c0023t0003g0016 a0022c0023t0003g0019 a0023c0039t0015g0004 a0023c0039t0016g0008 a0026c0026t0003g0017 a0026c0026t0003g0022 a0043c0050t0010g0012 a0049c0063t0011g0203 a0069c0093t0003g0020 a0075c0094t0003g0064 a0077c0102t0029g0006 a0083c0116t0016g0005 a0086c0118t0003g0067 a0090c0126t0003g0018 a0092c0044t0015g0003	20	294	0.0680	-170	c.784 others(17): Show c.7849-941_7849-772del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IL3RA_chrX_1331785_1387689	1365682	GGGGTGAG others(163): Show GGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGT GCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTG AGCCGGGTGCGCGGGGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	115	0.0087	-170	c.874 others(15): Show c.874+434_874+603del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCA1_chr2_236319151_236512476	236379285	AAGGGGAG others(163): Show AAGGGGAGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGGAGGGAA CCCCCAAACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCA AACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCAAACAGG GGAGCGACAGGACCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0110 a0001c0005t0002g0110	1	208	0.0048	-170	c.147 others(19): Show c.1478+1114_1478+1283del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18			chr2	TogoVar
ITGB3BP_chr1_63435770_63528225	63473799	GGGTCAGC others(163): Show GGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAG CCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG03486.hp2 HG02258.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337	3	374	0.0080	-170	c.254 others(17): Show c.254+4795_254+4964del	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
KCNG2_chr18_79792938_79905100	79885842	GGACAGGG others(163): Show GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACAGGAACATGGGGACACAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	312	0.0032	-170	c.625 others(19): Show c.625-13115_625-12946del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHDRBS2_chr6_61674961_62291225	61954643	TACTTATG others(163): Show TACTTATGTATACATACATATGTGTATATACACATACATACTTATGTATA CATACATATGTGTATATACACATGCATACTTATGTATACATACATATGTG TATATACACATGCATATGTATGTATACATACATATGTGTATATACACATG CATATGTATGTATACATACGC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	244	0.0041	-170	c.483 others(19): Show c.483+23253_483+23422del	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126921606	CTATCTAT others(163): Show CTATCTATCTATCTATCTTCCTATCTATCCATCCATCTTCCTGTGTTCCT ATCTATCTATTATCTATCTGTAATCTATCTATCTGTCTGTCTTTCTTTCT TTTTCTTTCTATCTATATCTATCAATCTATCTATATCTGTCTTCTATCTA TCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	114	0.0088	-170	c.55+ others(17): Show c.55+78679_55+78848del	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLHL11_chr17_41843518_41870423	41866044	TTTTTTTT others(163): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCCGCCCGGG TTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACTCCAGGCTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0008	1	366	0.0027	-170	c.-84 others(9): Show c.-844_-675del	KLHL11	ENSG00000178502.6	transcript	ENST00000319121.4	protein_coding		622		chr17	TogoVar
LDHAL6A_chr11_18450856_18484601	18467879	ACATATAT others(163): Show ACATATATATATATATATATATATATATATATATATATATACACACACAT ATATATATACACACACATATATATATACGTATATATATACGTATATATAT ACGTATATATATGCATATATATACGTATATATATACATATATATACGTAT ATATATATACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	420	0.0024	-170	c.418 others(17): Show c.418+2070_418+2239del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6			chr11	TogoVar
LHPP_chr10_124456823_124619141	124507064	GGGTAGAC others(163): Show GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAGGG GTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGG TAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGAT AGGGAAGATTTCAGGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0006 a0003c0004t0007g0006	1	260	0.0039	-170	c.624 others(17): Show c.624+8939_624+9108del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507107	TGCAGGGG others(163): Show TGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGT GGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTG GGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCG GGGGGGTAGACAGGATTTCAG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	260	0.0039	-170	c.624 others(17): Show c.624+8981_624+9150del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPG_chr18_49557057_49604185	49579021	GGAGAGGG others(163): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0048 a0001c0001t0024g0048	1	384	0.0026	-170	c.794 others(17): Show c.794-2390_794-2221del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579027	GGAGAGGG others(163): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0046 a0001c0001t0024g0046	1	384	0.0026	-170	c.794 others(17): Show c.794-2384_794-2215del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LRCOL1_chr12_132598151_132615582	132607628	CCTCTGTC others(163): Show CCTCTGTCTCCCTCTCTCTGTCTCTTTCTGTCTCTGTCTCTTTCTGTCTC TGTCTCTCTCTGCCTCTCTGTCTCTGTCTCTCCCTCTGTCTCTGTCTCTC TGTCTCTCCCTCTCTCCGTCTCTGTCTCTCTCTGTCTCTCCCTCTCTTTC TCTGCCTCTCCCTCTCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp1 HG02818.hp1 others(3): Show HG00621.hp2 HG01934.hp1 HG02818.hp1 HG03098.hp1 HG03130.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	6	390	0.0154	-170	c.-13 others(17): Show c.-13-1534_-13-1365del	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding	1/5			chr12	TogoVar
LRGUK_chr7_134122340_134269595	134190569	CAGTGGAA others(163): Show CAGTGGAAGGCAGAATTATATGAACTCAAGAGTCCTGGTGGTTGGGACCA CCATATTCTTGTAGGACCAACACTGGCCTGCTGTGTGACCTTAGAGGAGT TATTTTTGTAGTCATCTATAAAATGGAGTTCTTAGCAGCTGTTATCCACT TCTCCTGTTTCATTTTTCATT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	220	0.0046	-170	c.133 others(18): Show c.1335-1085_1335-916del	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19			chr7	TogoVar
LRRTM4_chr2_76742685_77527376	77307822	TCTATATA others(163): Show TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATAAATATATAGATATATCTATATATTATAGAAATATAAATATATAG ATATATCTATATATTATAGAAATATAAATATATAGATATATCTATATATT ATAGAAATATAAATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00621.hp2 others(25): Show HG00438.hp2 HG00558.hp1 HG00621.hp2 HG01074.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG02145.hp1 HG02523.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG03209.hp2 HG03704.hp1 HG03834.hp1 HG06807.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA19030.hp2 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0122 a0001c0001t0003g0033 a0001c0001t0003g0097 a0001c0001t0004g0037 a0001c0001t0004g0052 a0001c0001t0004g0095 a0001c0001t0007g0084 a0001c0001t0012g0128	28	128	0.2188	-170	c.155 others(23): Show c.1551+210326_1551+210495del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSP1_chr11_1848084_1897263	1873837	GAGGGAGG others(163): Show GAGGGAGGCCGGCAGAGGAGGGAGGCTGGCAGAGGAGGGAGGCTGGCAGA GCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAG AGGAGGGAGGCCGGCAGAGCAGGGAGCCCGGCGGAGGAGGGAGGCCGGCG GAGGAGGGAGGCTGGCAGAGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01192.hp2 others(2): Show HG00280.hp2 HG01070.hp1 HG01192.hp2 HG02559.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0176 a0002c0001t0002g0177 others(1): Show a0002c0001t0002g0016 a0002c0001t0002g0176 a0002c0001t0002g0177 a0002c0001t0002g0180	5	360	0.0139	-170	c.54- others(15): Show c.54-6224_54-6055del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUC7L_chr16_183990_234449	187080	GACACGGG others(163): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAATACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	350	0.0029	-170	c.19 others(11): Show c.1948_*2117del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1909		chr16	TogoVar
MCPH1_chr8_6401627_6653508	6505343	TATATATT others(163): Show TATATATTCTTTCTATATGTATATAGAATATATATATTCTTTCTATATGT ATATAGAATATATATATTCTTTATATACATAAAGAATATATATATTCTTT ATATACATATAGAATATATATATTCTTTACATATATAGAATATATATATT CTTTATATATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01167.hp2 others(27): Show HG00438.hp2 HG00639.hp1 HG01167.hp2 HG01261.hp1 HG02004.hp1 HG02145.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 NA18950.hp2 NA18964.hp2 NA18969.hp2 NA19043.hp1 NA19055.hp1 NA19070.hp2 NA19079.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0014 a0015 a0018 a0020 a0022 a0027	a0001c0001 a0001c0022 a0001c0088 others(21): Show a0001c0001 a0001c0022 a0001c0088 a0002c0002 a0002c0034 a0002c0089 a0003c0005 a0003c0066 a0004c0006 a0005c0004 a0008c0052 a0009c0037 a0009c0093 a0011c0011 a0011c0096 a0012c0015 a0012c0026 a0014c0024 a0015c0049 a0018c0029 a0020c0028 a0022c0076 a0022c0077 a0027c0082	a0001c0001t0001 a0001c0001t0019 a0001c0022t0001 others(24): Show a0001c0001t0001 a0001c0001t0019 a0001c0022t0001 a0001c0088t0009 a0002c0002t0014 a0002c0034t0016 a0002c0089t0052 a0003c0005t0068 a0003c0066t0007 a0004c0006t0021 a0005c0004t0001 a0005c0004t0011 a0008c0052t0043 a0009c0037t0072 a0009c0093t0077 a0011c0011t0001 a0011c0011t0002 a0011c0096t0001 a0012c0015t0006 a0012c0026t0010 a0014c0024t0007 a0015c0049t0007 a0018c0029t0013 a0020c0028t0022 a0022c0076t0007 a0022c0077t0017 a0027c0082t0016	a0001c0001t0001g0025 a0001c0001t0001g0174 a0001c0001t0019g0163 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0174 a0001c0001t0019g0163 a0001c0022t0001g0248 a0001c0088t0009g0161 a0002c0002t0014g0212 a0002c0034t0016g0164 a0002c0089t0052g0162 a0003c0005t0068g0145 a0003c0066t0007g0243 a0004c0006t0021g0081 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0011g0100 a0008c0052t0043g0240 a0009c0037t0072g0253 a0009c0093t0077g0254 a0011c0011t0001g0115 a0011c0011t0002g0246 a0011c0096t0001g0139 a0012c0015t0006g0001 a0012c0026t0010g0050 a0014c0024t0007g0080 a0015c0049t0007g0241 a0018c0029t0013g0046 a0020c0028t0022g0040 a0020c0028t0022g0041 a0022c0076t0007g0002 a0022c0077t0017g0004 a0027c0082t0016g0058	30	262	0.1145	-170	c.221 others(19): Show c.2214+5421_2214+5590del	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MEGF11_chr15_65890299_66258750	66039746	TCTGAGCC others(163): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCA GGCGGCGGTGGGGTGACGGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp2 others(66): Show HG00140.hp1 HG00140.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18952.hp1 NA18993.hp2 NA19043.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0010 a0013	a0001c0001 a0001c0010 a0001c0021 others(8): Show a0001c0001 a0001c0010 a0001c0021 a0002c0002 a0002c0005 a0002c0016 a0003c0003 a0004c0004 a0009c0013 a0010c0014 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0001 a0001c0021t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0005t0002 a0002c0016t0001 a0003c0003t0003 a0004c0004t0003 a0009c0013t0001 a0010c0014t0013 a0013c0020t0007	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 others(66): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0004g0038 a0001c0001t0004g0045 a0001c0010t0001g0093 a0001c0021t0008g0165 a0002c0002t0001g0027 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0120 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0004g0142 a0002c0002t0006g0066 a0002c0002t0007g0134 a0002c0002t0008g0156 a0002c0005t0002g0152 a0002c0016t0001g0002 a0003c0003t0003g0102 a0004c0004t0003g0080 a0004c0004t0003g0122 a0009c0013t0001g0114 a0010c0014t0013g0029 a0013c0020t0007g0104	69	176	0.3921	-170	c.394 others(19): Show c.394+54486_394+54655del	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688134	TGTGTGTA others(163): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATATAT TATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02083.hp2 HG00738.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0339 a0001c0003t0003g0151 a0001c0001t0001g0339 a0001c0003t0003g0151	2	352	0.0057	-170	c.36 others(11): Show c.3637_*3806del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2771		chr15	TogoVar

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Search Results (Total: 10000 hits)