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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1015900	CGATGCCT others(188): Show CGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-195	c.73+ others(19): Show c.73+107936_73+108130del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1248009	GAGTCTGA others(188): Show GAGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGTG GAGTGATGGTCCATGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGG AGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGTGG AGTGATGGTCCACATCGGTGGCCGGGAAGACCTTTGAGATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	-195	c.74- others(17): Show c.74-10841_74-10647del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DNAJC5_chr20_63890126_63941011	63919677	GACATGTG others(188): Show GACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACAGGAC AGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCC CGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCC AGGGCCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00597.hp2 others(62): Show HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03654.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0051 a0001c0001t0055	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0196 a0001c0001t0001g0239 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0016g0018 a0001c0001t0016g0079 a0001c0001t0017g0009 a0001c0001t0017g0308 a0001c0001t0025g0192 a0001c0001t0029g0008 a0001c0001t0033g0195 a0001c0001t0034g0020 a0001c0001t0042g0082 a0001c0001t0043g0099 a0001c0001t0051g0095 a0001c0001t0055g0080	65	372	0.1747	-195	c.-11 others(17): Show c.-11-8613_-11-8419del		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
ERC1_chr12_986223_1500931	1087264	ATTGTTGT others(188): Show ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show HG01261.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 others(1): Show a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138	a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 others(1): Show a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095	4	162	0.0247	-195	c.108 others(19): Show c.1086+3802_1086+3996del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914568	TGTCTCCG others(188): Show TGTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTT CCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGT CTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	330	0.0030	-195	c.-13 others(17): Show c.-13-1831_-13-1637del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
GAK_chr4_844277_937316	927160	TCCGCACT others(188): Show TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	390	0.0026	-195	c.145 others(17): Show c.145+4688_145+4882del		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	TCCCCCTC others(188): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0145 a0002c0002t0002g0145	1	314	0.0032	-195	c.10 others(11): Show c.1049_*1243del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807217	CTCCCTCC others(188): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA18947.hp2 HG01243.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0172 a0002c0002t0002g0120 a0001c0001t0002g0172 a0002c0002t0002g0120	2	314	0.0064	-195	c.30 others(11): Show c.3052_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2931		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231903	AGAGGAGA others(188): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01099.hp2 others(4): Show HG00423.hp1 HG00639.hp1 HG01099.hp2 HG01192.hp1 NA18747.hp1 NA18961.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0002 a0001c0001t0001 a0001c0002t0001 a0001c0012t0002	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0090 a0001c0002t0001g0022 a0001c0002t0001g0163 a0001c0012t0002g0183	7	183	0.0383	-195	c.107 others(21): Show c.1077+15812_1077+16006del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GNG5_chr1_84493325_84511581	84510760	GTGTCTAT others(188): Show GTGTCTATCAACAGATGAATGAATGAGTAAAGAAAATGTGGTACAAATAA ACAATGGAGTACCGTTCCGCCATAAAAAAGAATGAGATCATCTCATTTGC AACAACATGGATAGAACTGGATGTCATTATGTTAAGTGAAAAAGCCAGAC ACAGAAACACAAACCTCACATGTTCTCACTTATTTGGCAGTAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	-195	c.-47 others(11): Show c.-4730_-4536del		GNG5	ENSG00000174021.12	transcript	ENST00000370645.9	protein_coding					4180		chr1	TogoVar
LGR5_chr12_71434798_71591310	71563926	ATGTACAC others(188): Show ATGTACACACACACCGTGTATATATGCATATATACGTATCTGTACACACG CACTGTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATA TATGCATATATACGTATCTGTATACACGCACCGTGTATATATGCATATAT ACGTATCTGTACACACGCACCGTGTATATATGCATATATACGTATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0014 a0001c0002 a0011c0014	a0001c0002t0001 a0011c0014t0011 a0001c0002t0001 a0011c0014t0011	a0001c0002t0001g0196 a0011c0014t0011g0200 a0001c0002t0001g0196 a0011c0014t0011g0200	2	200	0.0100	-195	c.857 others(17): Show c.857+2084_858-2274del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(188): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02300.hp1 HG03492.hp1 others(1): Show HG00741.hp1 HG02300.hp1 HG03492.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0081 a0001c0001t0004g0173 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0081 a0001c0001t0004g0173 a0002c0003t0001g0125	4	200	0.0200	-195	c.857 others(17): Show c.857+2127_858-2231del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LHPP_chr10_124456823_124619141	124506675	GGGTAGGG others(188): Show GGGTAGGGAAGATTTCAGGTTGGCGGGTAGGGAAGATTTCAAGTGGGGTG GGTAAGGAGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGGGGTGG GTAAGGAGGATTTCAGGTTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTAGGGGGTAGGGAGGATTTCAGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04115.hp1 HG01496.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0212 a0001c0001t0001g0127 a0001c0001t0001g0212	2	260	0.0077	-195	c.624 others(17): Show c.624+8553_624+8747del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506993	GTAGGGAG others(188): Show GTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGG TAGGGAGGATTTCAGGTGTAGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAG AGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18947.hp2 HG03704.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0196 a0001c0001t0012g0027 a0001c0001t0001g0196 a0001c0001t0012g0027	2	260	0.0077	-195	c.624 others(17): Show c.624+8869_624+9063del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MPPED1_chr22_43407014_43512848	43496682	GTGGTGGT others(188): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGA AGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp2 others(54): Show HG00099.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18968.hp2 NA18981.hp2 NA18984.hp1 NA18999.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0024 a0001c0004t0001 a0001c0004t0012 a0001c0005t0001 a0001c0005t0004 a0001c0006t0005 a0001c0007t0002 a0001c0007t0008 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0116 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0242 a0001c0001t0004g0243 a0001c0001t0005g0224 a0001c0001t0006g0026 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0007g0124 a0001c0001t0013g0117 a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0047 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0001g0096 a0001c0002t0001g0133 a0001c0002t0001g0164 a0001c0002t0003g0062 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0081 a0001c0002t0004g0045 a0001c0002t0005g0245 a0001c0002t0006g0244 a0001c0002t0013g0075 a0001c0003t0003g0166 a0001c0003t0006g0002 a0001c0003t0006g0004 a0001c0003t0006g0005 a0001c0003t0007g0239 a0001c0003t0024g0006 a0001c0004t0001g0114 a0001c0004t0012g0156 a0001c0005t0001g0082 a0001c0005t0004g0019 a0001c0006t0005g0036 a0001c0007t0002g0200 a0001c0007t0002g0206 a0001c0007t0008g0069 a0001c0010t0001g0018 a0001c0010t0001g0020	57	250	0.2280	-195	c.633 others(17): Show c.633-1540_633-1346del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233790479	TCCTCCCT others(188): Show TCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGCCTTACTTA CTCTTTCCCCTCCCTCCCCCTTTCTTTTTCTCCTTCCTTCCTTCCTTCCT CCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01069.hp2 others(40): Show HG00323.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01993.hp1 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18962.hp1 NA18994.hp2 NA19001.hp2 NA19043.hp1 NA19081.hp1 NA19086.hp1 NA20805.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0012 a0014 a0015 a0021 a0038 a0039 a0042 a0072 a0080 a0083 a0084 a0095 a0096 a0098 a0101 a0105 a0108 a0109 a0116 a0117 a0123	a0001c0001 a0001c0004 a0001c0027 others(27): Show a0001c0001 a0001c0004 a0001c0027 a0001c0094 a0001c0096 a0001c0108 a0002c0003 a0003c0038 a0004c0120 a0012c0136 a0014c0019 a0015c0028 a0021c0104 a0038c0083 a0039c0077 a0042c0041 a0072c0065 a0080c0114 a0083c0107 a0084c0097 a0095c0121 a0096c0082 a0098c0081 a0101c0125 a0105c0132 a0108c0147 a0109c0148 a0116c0151 a0117c0150 a0123c0157	a0001c0001t0001 a0001c0004t0001 a0001c0027t0001 others(27): Show a0001c0001t0001 a0001c0004t0001 a0001c0027t0001 a0001c0094t0001 a0001c0096t0001 a0001c0108t0001 a0002c0003t0001 a0003c0038t0001 a0004c0120t0001 a0012c0136t0001 a0014c0019t0001 a0015c0028t0001 a0021c0104t0001 a0038c0083t0001 a0039c0077t0001 a0042c0041t0001 a0072c0065t0001 a0080c0114t0001 a0083c0107t0001 a0084c0097t0001 a0095c0121t0001 a0096c0082t0001 a0098c0081t0001 a0101c0125t0001 a0105c0132t0001 a0108c0147t0001 a0109c0148t0001 a0116c0151t0001 a0117c0150t0001 a0123c0157t0001	a0001c0001t0001g0157 a0001c0001t0001g0207 a0001c0004t0001g0120 others(40): Show a0001c0001t0001g0157 a0001c0001t0001g0207 a0001c0004t0001g0120 a0001c0004t0001g0146 a0001c0004t0001g0156 a0001c0027t0001g0122 a0001c0094t0001g0112 a0001c0096t0001g0121 a0001c0108t0001g0148 a0002c0003t0001g0109 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0119 a0002c0003t0001g0131 a0002c0003t0001g0141 a0003c0038t0001g0354 a0004c0120t0001g0362 a0012c0136t0001g0135 a0014c0019t0001g0147 a0014c0019t0001g0149 a0015c0028t0001g0102 a0015c0028t0001g0129 a0015c0028t0001g0130 a0021c0104t0001g0033 a0038c0083t0001g0358 a0039c0077t0001g0132 a0042c0041t0001g0125 a0042c0041t0001g0136 a0072c0065t0001g0364 a0080c0114t0001g0041 a0083c0107t0001g0173 a0084c0097t0001g0126 a0095c0121t0001g0363 a0096c0082t0001g0170 a0098c0081t0001g0357 a0101c0125t0001g0034 a0105c0132t0001g0137 a0108c0147t0001g0143 a0109c0148t0001g0142 a0116c0151t0001g0037 a0117c0150t0001g0116 a0123c0157t0001g0366	43	378	0.1138	-195	c.571 others(15): Show c.571+469_571+663del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195775382	GTACCTTC others(188): Show GTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02451.hp2 others(6): Show HG01884.hp1 HG01975.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 NA18906.hp2	a0066 a0068 a0069 others(6): Show a0066 a0068 a0069 a0070 a0071 a0072 a0073 a0080 a0105	a0066c0177 a0068c0171 a0069c0172 others(6): Show a0066c0177 a0068c0171 a0069c0172 a0070c0174 a0071c0175 a0072c0173 a0073c0176 a0080c0170 a0105c0124	a0066c0177t0004 a0068c0171t0005 a0069c0172t0005 others(6): Show a0066c0177t0004 a0068c0171t0005 a0069c0172t0005 a0070c0174t0002 a0071c0175t0005 a0072c0173t0004 a0073c0176t0005 a0080c0170t0005 a0105c0124t0003	a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 others(6): Show a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 a0070c0174t0002g0211 a0071c0175t0005g0227 a0072c0173t0004g0225 a0073c0176t0005g0228 a0080c0170t0005g0240 a0105c0124t0003g0116	9	249	0.0361	-195	c.129 others(21): Show c.12944-1272_12944-1078del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775635	CCATACCT others(188): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0086 a0086	a0086c0185 a0086c0185	a0086c0185t0003 a0086c0185t0003	a0086c0185t0003g0217 a0086c0185t0003g0217	1	249	0.0040	-195	c.129 others(21): Show c.12944-1525_12944-1331del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MYO3B_chr2_170173147_170660167	170649042	GTATATTA others(188): Show GTATATTATATAAAATAATATATAATGTATATTATATATAAAATAATATA TAATGTATATTATATATAAAATAATATATAATGTATATAAAATAATATAT AATATATTATATATAAAATAATATATAATATATTATATATAAAATAATAT ATATTATATATAAAATAATATATAATATATTATATATAAAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0086 a0002c0018t0006g0086	1	174	0.0058	-195	c.373 others(19): Show c.3734-2574_3734-2380del		MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688207	TATGTGTG others(188): Show TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATA TTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATA TATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18980.hp1 HG06807.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0001g0171 a0001c0001t0001g0216	2	352	0.0057	-195	c.37 others(11): Show c.3710_*3904del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2844		chr15	TogoVar
NDST3_chr4_118029486_118263634	118066679	TAACATGT others(188): Show TAACATGTTATATATTATATATACATTATATATAACATGTTATATATTAT ATATACATTATATATAACATGTTATATATTATATATACATTATATATAAC ATGTTATATATTATATATACATTATATATAACATGTTATATATTATATAT ACATTATATATAACATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00735.hp2 others(19): Show HG00099.hp1 HG00597.hp1 HG00735.hp2 HG01169.hp1 HG01975.hp1 HG01978.hp2 HG02602.hp2 HG02809.hp2 HG03098.hp1 HG03209.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18952.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18986.hp1 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0013t0003	a0001c0001t0001g0121 a0001c0002t0001g0061 a0001c0002t0001g0081 others(19): Show a0001c0001t0001g0121 a0001c0002t0001g0061 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0214 a0001c0004t0001g0206 a0001c0013t0003g0105	22	216	0.1019	-195	c.981 others(19): Show c.981+11790_981+11984del		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NEU4_chr2_241804193_241822413	241805214	TCCCCCTC others(188): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA18951.hp1 HG01257.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0081 a0001c0002t0001g0065 a0001c0001t0003g0081 a0001c0002t0001g0065	2	319	0.0063	-195	c.-40 others(11): Show c.-4063_-3869del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807217	CTCCCTCC others(188): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02300.hp2 others(3): Show HG00639.hp1 HG01981.hp2 HG02300.hp2 HG02559.hp1 NA18612.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0004t0001g0073 a0001c0004t0001g0154 a0002c0003t0002g0149	6	319	0.0188	-195	c.-20 others(11): Show c.-2060_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1975		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587066	TACATATA others(188): Show TACATATATATACATATATATACATATATATACACATATATATACATATA TATACATATATATACATATATACACATATATATACATATATACACATATA TACACATATATATACACATATATATACACATATATATACACATATATATA TACATATATATACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0194 a0001c0001t0001g0213	2	372	0.0054	-195	c.184 others(19): Show c.1844+1782_1844+1976del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587067	ACATATAT others(188): Show ACATATATATACATATATATACATATATATACACATATATATACATATAT ATACATATATATACATATATACACATATATATACATATATACACATATAT ACACATATATATACACATATATATACACATATATATACACATATATATAT ACATATATATACATATATATATACATACATATATATATATACACAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01257.hp2 HG02559.hp1 others(2): Show HG01069.hp2 HG01257.hp2 HG02559.hp1 HG02622.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0259 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0350 a0001c0001t0001g0355	5	372	0.0134	-195	c.184 others(19): Show c.1844+1781_1844+1975del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587070	TATATATA others(188): Show TATATATACATATATATACATATATATACACATATATATACATATATATA CATATATATACATATATACACATATATATACATATATACACATATATACA CATATATATACACATATATATACACATATATATACACATATATATATACA TATATATACATATATATATACATACATATATATATATACACATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0187 a0001c0001t0001g0195	2	372	0.0054	-195	c.184 others(19): Show c.1844+1778_1844+1972del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NPIPB11_chr16_29376310_29411711	29383194	TATTATCA others(188): Show TATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGA CGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCC CCGCAGATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAG CTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0002 a0022c0023t0002	a0022c0023t0002g0015 a0022c0023t0002g0291 a0022c0023t0002g0015 a0022c0023t0002g0291	3	428	0.0070	-195	c.154 others(9): Show c.1543_1737del	p.Leu others(13): Show p.Leu515_Asn579del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4484/6369	1543/3486	515/1161			chr16	TogoVar
OPRL1_chr20_64075082_64105633	64090801	AGGTGCCC others(188): Show AGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGG GCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTG GGGCCCAGCTGTGGCAGGGGTGCCCTGGGCACTGATCTGGGGCCCAGCTG TGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0021 a0002c0002t0019g0021	1	66	0.0152	-195	c.-18 others(18): Show c.-184-1048_-184-854del		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCYT1A_chr3_196229368_196292726	196271604	CTTTTTTT others(188): Show CTTTTTTTTTTTTTGAGAAAGAGTCTCACTGTGTCACCCTGGCTAGAGTG CAGTGGCACGATCTCGGCTCTCACAGCCATAATCATAGCACACTGTAGCC TCAAACTCCTGAGCTTAAGCAATCCTCCCATCTGAGCCTCCAGAATAGCT AGGACCAGCATAATGTATTTTTTAAATGTCCTTCTCCTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19005.hp2 NA18989.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0095 a0001c0001t0020g0096 a0001c0001t0020g0095 a0001c0001t0020g0096	2	310	0.0065	-195	c.-10 others(17): Show c.-10-1258_-10-1064del		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196271634	GTGTCACC others(188): Show GTGTCACCCTGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCACAGCCAT AATCATAGCACACTGTAGCCTCAAACTCCTGAGCTTAAGCAATCCTCCCA TCTGAGCCTCCAGAATAGCTAGGACCAGCATAATGTATTTTTTAAATGTC CTTCTCCTTCTTTCCTTTTTTTTTTTTTTGAGAAAGAGTCTCACTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02486.hp1 HG02896.hp1 others(5): Show HG01168.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03540.hp2 NA18950.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0052 a0001c0001t0001 a0001c0001t0015 a0001c0001t0052	a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0070 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0015g0128 a0001c0001t0015g0129 a0001c0001t0015g0131 a0001c0001t0015g0132 a0001c0001t0052g0130	8	310	0.0258	-195	c.-10 others(17): Show c.-10-1288_-10-1094del		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8						chr3	TogoVar
PFKP_chr10_3062548_3141802	3106196	AGGGAGGC others(188): Show AGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGC GTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(157): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0020 a0001c0022 a0001c0032 a0001c0033 a0001c0050 a0001c0052 a0001c0053 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0064 a0001c0066 a0003c0030 a0008c0051 a0009c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0003t0014 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0012t0002 a0001c0012t0004 a0001c0020t0001 a0001c0020t0013 a0001c0022t0001 a0001c0032t0004 a0001c0033t0003 a0001c0050t0005 a0001c0052t0006 a0001c0053t0001 a0001c0055t0005 a0001c0056t0003 a0001c0057t0009 a0001c0058t0010 a0001c0064t0002 a0001c0066t0007 a0003c0030t0003 a0008c0051t0004 a0009c0054t0003	a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0036 others(157): Show a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0348 a0001c0001t0002g0363 a0001c0001t0002g0381 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0131 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0323 a0001c0001t0003g0341 a0001c0001t0003g0352 a0001c0001t0003g0380 a0001c0001t0003g0382 a0001c0001t0003g0383 a0001c0001t0003g0384 a0001c0001t0003g0392 a0001c0001t0003g0394 a0001c0001t0004g0017 a0001c0001t0004g0045 a0001c0001t0004g0256 a0001c0001t0004g0274 a0001c0001t0004g0329 a0001c0001t0004g0369 a0001c0001t0004g0385 a0001c0001t0006g0024 a0001c0001t0006g0089 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0223 a0001c0001t0006g0279 a0001c0001t0006g0312 a0001c0001t0008g0146 a0001c0001t0008g0208 a0001c0001t0008g0300 a0001c0001t0008g0343 a0001c0002t0002g0378 a0001c0003t0001g0009 a0001c0003t0001g0021 a0001c0003t0001g0033 a0001c0003t0001g0038 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0067 a0001c0003t0001g0085 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0097 a0001c0003t0001g0106 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0123 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0139 a0001c0003t0001g0145 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0169 a0001c0003t0001g0183 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0255 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0284 a0001c0003t0001g0297 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0367 a0001c0003t0001g0376 a0001c0003t0007g0103 a0001c0003t0007g0149 a0001c0003t0009g0190 a0001c0003t0012g0051 a0001c0003t0012g0263 a0001c0003t0012g0287 a0001c0003t0014g0020 a0001c0003t0014g0228 a0001c0008t0001g0267 a0001c0008t0005g0105 a0001c0008t0005g0113 a0001c0008t0005g0177 a0001c0008t0005g0202 a0001c0008t0005g0299 a0001c0008t0005g0342 a0001c0008t0005g0362 a0001c0008t0005g0387 a0001c0008t0005g0393 a0001c0008t0005g0401 a0001c0009t0001g0258 a0001c0012t0002g0220 a0001c0012t0004g0061 a0001c0020t0001g0156 a0001c0020t0001g0324 a0001c0020t0013g0136 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0032t0004g0193 a0001c0032t0004g0194 a0001c0033t0003g0077 a0001c0050t0005g0124 a0001c0052t0006g0099 a0001c0053t0001g0141 a0001c0055t0005g0233 a0001c0056t0003g0331 a0001c0057t0009g0332 a0001c0058t0010g0215 a0001c0064t0002g0147 a0001c0066t0007g0257 a0003c0030t0003g0039 a0003c0030t0003g0211 a0008c0051t0004g0110 a0009c0054t0003g0265	160	402	0.3980	-195	c.774 others(15): Show c.774+765_775-754del		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59822015	CCAGCGAT others(188): Show CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC GCCCCGCAACGATCCCACCCCTTCTCCAGCGATCCCACCCCCTCCGCAGC GATCCCACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCC CTTCCGCAGCGATCCCACCCCCTCCGCAGCCATCCCACCCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	250	0.0040	-195	c.132 others(21): Show c.1329-14485_1329-14291del		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHLPP2_chr16_71639924_71729701	71697127	GGCACCAC others(188): Show GGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACTCTGTCTCAATA AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAAACT CAGGGTCTGCAATTTTCCACACTTGACTTCAATTATTGCTCTGATTATTG CCATCCTAGCCCACCAGACAGGAAAAGAGCACCACAGCCCTGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0170 a0001c0005t0002g0170	1	324	0.0031	-195	c.418 others(17): Show c.418+5276_418+5470del		PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	3/18						chr16	TogoVar
PRKAG2_chr7_151551127_151882115	151874330	TATGATGT others(188): Show TATGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGT ATATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTAT ATGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTA TATGTATATGATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0210 a0001c0001t0028g0210	1	252	0.0040	-195	c.114 others(17): Show c.114+1982_114+2176del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PXDN_chr2_1626887_1749515	1706917	TTCACCAA others(188): Show TTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGA GAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACT AATAATACAATCTGAGAGCATGCTTCAGTGTTCAGCGATCAGCTCTAAAC ATCACCTGCCCCACTAATTATACAATCTAAGAGCACGCTGCAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18969.hp1 NA19062.hp1 HG01175.hp2 NA18969.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0130 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0001t0005g0130 a0001c0001t0012g0272 a0001c0001t0012g0278	3	322	0.0093	-195	c.201 others(19): Show c.201-13978_201-13784del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RIC3_chr11_8101056_8174025	8161843	TCCCACTT others(188): Show TCCCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAATGTCCGAAACTGT TGCTATAAATGAGACACTCACTTTCTCCGGGCAATGGAATGTGAGGAGGT AATGTCCGAAACTGTTGCTATAAATGAGACACTCACTTTCTCCGGGCAAT GGAATGTGAGGAGGTAATGTCCGAAACTGTTGCTATAAATGAGACA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01346.hp2 others(6): Show HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02300.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0008 a0001c0001t0027	a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 others(6): Show a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0027g0020	9	370	0.0243	-195	c.124 others(17): Show c.124+6828_124+7022del		RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5						chr11	TogoVar
RIN2_chr20_19753258_20007456	19923540	GGCCAAGG others(188): Show GGCCAAGGTGGGAGGATTACTTGAGCCCAGGAGTTTGAGACCAGCTTGGG CAACACAGCAAGACTCCATCTCTATTTTTAAAAATAGACAAATATTAAAT TATCCATTGTGTTTATTTCCTTTAGATACTACCATTTACTAATTAGAACT AAAATTATAAAGTTATTCACAACAAAATACTCATTTCACTTAACTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	276	0.0036	-195	c.58- others(17): Show c.58-11558_58-11364del		RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12						chr20	TogoVar
RNF213_chr17_80255852_80403794	80314658	ATGGTGGA others(188): Show ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0011 a0001c0076t0011	a0001c0076t0011g0216 a0001c0076t0011g0216	1	292	0.0034	-195	c.281 others(19): Show c.2811+1498_2811+1692del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315054	ATGGAGGT others(188): Show ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGA TGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp2 others(46): Show HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0017 a0020 a0023 a0038 a0039 a0040 a0051 a0052 a0053 a0054 a0069 a0074 a0089 a0091 a0103	a0001c0004 a0001c0006 a0001c0021 others(30): Show a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0124 a0002c0002 a0002c0039 a0002c0099 a0003c0005 a0003c0030 a0004c0009 a0005c0105 a0006c0045 a0007c0008 a0008c0013 a0010c0138 a0013c0012 a0014c0118 a0017c0019 a0020c0031 a0023c0088 a0038c0146 a0039c0147 a0040c0104 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0069c0065 a0074c0068 a0089c0115 a0091c0113 a0103c0120	a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 others(39): Show a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0006t0011 a0001c0021t0001 a0001c0021t0002 a0001c0029t0007 a0001c0029t0011 a0001c0124t0002 a0002c0002t0005 a0002c0002t0009 a0002c0039t0014 a0002c0099t0058 a0003c0005t0007 a0003c0005t0011 a0003c0005t0080 a0003c0030t0007 a0004c0009t0005 a0004c0009t0019 a0005c0105t0021 a0006c0045t0011 a0007c0008t0008 a0008c0013t0028 a0008c0013t0044 a0010c0138t0012 a0013c0012t0049 a0014c0118t0057 a0017c0019t0024 a0020c0031t0012 a0023c0088t0013 a0038c0146t0048 a0039c0147t0045 a0040c0104t0008 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0069c0065t0025 a0074c0068t0019 a0089c0115t0006 a0091c0113t0021 a0103c0120t0050	a0001c0004t0007g0047 a0001c0004t0007g0268 a0001c0004t0011g0048 others(46): Show a0001c0004t0007g0047 a0001c0004t0007g0268 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0006t0011g0051 a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0124t0002g0068 a0002c0002t0005g0073 a0002c0002t0009g0042 a0002c0039t0014g0240 a0002c0099t0058g0255 a0003c0005t0007g0058 a0003c0005t0011g0253 a0003c0005t0080g0052 a0003c0030t0007g0037 a0003c0030t0007g0049 a0004c0009t0005g0273 a0004c0009t0019g0272 a0005c0105t0021g0270 a0006c0045t0011g0202 a0007c0008t0008g0078 a0007c0008t0008g0286 a0008c0013t0028g0241 a0008c0013t0028g0250 a0008c0013t0044g0236 a0010c0138t0012g0005 a0013c0012t0049g0217 a0014c0118t0057g0167 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0020c0031t0012g0019 a0023c0088t0013g0165 a0038c0146t0048g0172 a0039c0147t0045g0175 a0040c0104t0008g0023 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0069c0065t0025g0029 a0074c0068t0019g0252 a0089c0115t0006g0035 a0091c0113t0021g0031 a0103c0120t0050g0249	49	292	0.1678	-195	c.281 others(19): Show c.2811+1892_2812-1935del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	355801	GCGACCGT others(188): Show GCGACCGTGCACCACACTTACTAAAAGACATCTTCACAGGCGACCGTGCA CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	-195	c.-34 others(11): Show c.-3497_-3303del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					2995		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3177739	ATCGGGCT others(188): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03139.hp1 NA18942.hp2 HG02486.hp1 HG03139.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-195	c.-10 others(10): Show c.-1053_-859del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					1029		chr19	TogoVar
SHC2_chr19_411589_466033	452270	GTTTCATT others(188): Show GTTTCATTGAGGTTGGGGCATCGTACTGACTTGGGGGGAGTTCCTGCGTA GGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCATCGTACTGACTTGGG GGGAATTCCTGCGTAGGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCA TCGTACTGACTTGGGGGGAATTCCTGCATAGGTGTGCGTTTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	212	0.0047	-195	c.468 others(17): Show c.468+8064_468+8258del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SIGIRR_chr11_400716_419999	411440	GTGCCCAG others(188): Show GTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCAT GTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGAT ACAGTCGGCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA21309.hp1 HG02717.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0004g0238 a0001c0001t0001g0107 a0001c0001t0004g0238	2	242	0.0083	-195	c.-15 others(19): Show c.-153-1608_-153-1414del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	411603	GGTGCCCA others(188): Show GGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCT GACCATGTCTGGATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCT GGATACAGTCGGTGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGAT GCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	242	0.0041	-195	c.-15 others(19): Show c.-153-1771_-153-1577del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	412050	GGGGGGTG others(188): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCC AGCTCTGACCATGTCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACC ATGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGAT ACAGTCGGGGAGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	242	0.0041	-195	c.-15 others(19): Show c.-153-2218_-153-2024del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071506	CCCCCAGC others(188): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	118	0.0085	-195	c.224 others(19): Show c.2241+1932_2241+2126del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852150	CCCATGGC others(188): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCT CCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCA CCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp1 HG03453.hp2 HG01192.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0324 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0324	3	356	0.0084	-195	c.645 others(17): Show c.645+1513_645+1707del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852251	CCCCCACC others(188): Show CCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	356	0.0028	-195	c.645 others(17): Show c.645+1630_646-1802del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852299	ACCAGATC others(188): Show ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCC CCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0001 a0015c0023t0001	a0015c0023t0001g0055 a0015c0023t0001g0055	1	356	0.0028	-195	c.645 others(17): Show c.645+1671_646-1761del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
TCERG1L_chr10_131087391_131316721	131228169	GGACAGGC others(188): Show GGACAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGACAGGCATT TCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCC TCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTT CCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02074.hp1 HG00438.hp1 HG02040.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0009g0280 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0009g0280	3	324	0.0093	-195	c.856 others(19): Show c.856+31895_856+32089del		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11						chr10	TogoVar

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Search Results (Total: 10000 hits)