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
MLPH_chr2_237482251_237560322	237543127	TGGGCACA others(184): Show TGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGG TGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTG GTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0230 a0004c0014t0001g0230	1	286	0.0035	-191	c.153 others(17): Show c.1539+478_1539+668del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233790479	TCCTCCCT others(184): Show TCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGCCTTACTTA CTCTTTCCCCTCCCTCCCCCTTTCTTTTTCTCCTTCCTTCCTTCCTTCCT CCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG02055.hp2 others(19): Show HG00099.hp2 HG00639.hp2 HG02055.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02602.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp1 NA18942.hp1 NA18943.hp2 NA18983.hp1 NA19002.hp2 NA19012.hp1 NA19066.hp1 NA19075.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0008 a0013 a0016 a0020 a0022 a0024 a0026 a0073 a0086 a0099 a0100 a0118	a0001c0004 a0002c0016 a0002c0044 others(18): Show a0001c0004 a0002c0016 a0002c0044 a0003c0002 a0003c0038 a0004c0007 a0004c0010 a0004c0036 a0008c0005 a0013c0011 a0016c0021 a0020c0023 a0022c0072 a0022c0075 a0024c0130 a0026c0030 a0073c0066 a0086c0110 a0099c0124 a0100c0126 a0118c0159	a0001c0004t0001 a0002c0016t0001 a0002c0044t0001 others(18): Show a0001c0004t0001 a0002c0016t0001 a0002c0044t0001 a0003c0002t0001 a0003c0038t0001 a0004c0007t0001 a0004c0010t0001 a0004c0036t0001 a0008c0005t0001 a0013c0011t0001 a0016c0021t0001 a0020c0023t0001 a0022c0072t0001 a0022c0075t0001 a0024c0130t0001 a0026c0030t0001 a0073c0066t0001 a0086c0110t0001 a0099c0124t0001 a0100c0126t0002 a0118c0159t0001	a0001c0004t0001g0124 a0002c0016t0001g0123 a0002c0044t0001g0151 others(19): Show a0001c0004t0001g0124 a0002c0016t0001g0123 a0002c0044t0001g0151 a0003c0002t0001g0117 a0003c0038t0001g0236 a0004c0007t0001g0036 a0004c0010t0001g0158 a0004c0036t0001g0118 a0008c0005t0001g0134 a0013c0011t0001g0140 a0016c0021t0001g0172 a0020c0023t0001g0133 a0022c0072t0001g0046 a0022c0075t0001g0138 a0024c0130t0001g0152 a0026c0030t0001g0360 a0026c0030t0001g0361 a0073c0066t0001g0365 a0086c0110t0001g0139 a0099c0124t0001g0159 a0100c0126t0002g0027 a0118c0159t0001g0359	22	378	0.0582	-191	c.571 others(15): Show c.571+473_571+663del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(184): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 NA18949.hp1 others(5): Show HG02622.hp2 HG03225.hp1 NA18949.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA20752.hp2 NA20805.hp2	a0001 a0005 a0029 others(1): Show a0001 a0005 a0029 a0035	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0005c0005 a0029c0183 a0035c0125	a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0009t0002 a0005c0005t0002 a0029c0183t0001 a0035c0125t0001	a0001c0002t0002g0021 a0001c0002t0003g0295 a0001c0002t0003g0296 others(5): Show a0001c0002t0002g0021 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0003t0001g0046 a0001c0009t0002g0010 a0005c0005t0002g0301 a0029c0183t0001g0119 a0035c0125t0001g0356	8	403	0.0199	-191	c.164 others(17): Show c.1644+223_1644+413del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64174083	CCTGTAGC others(184): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG01928.hp1 others(7): Show HG01255.hp2 HG01884.hp1 HG01928.hp1 HG02622.hp2 HG02630.hp1 HG03139.hp2 HG03209.hp1 HG03834.hp1 HG06807.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0005 a0001c0004t0004 a0001c0015t0002	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0071 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0124 a0001c0001t0001g0215 a0001c0001t0002g0214 a0001c0001t0008g0133 a0001c0002t0005g0154 a0001c0004t0004g0013 a0001c0015t0002g0096	10	223	0.0448	-191	c.-99 others(17): Show c.-99+9347_-99+9537del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175583	CCTGTAGC others(184): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02717.hp1 HG02818.hp1 HG02004.hp1 HG02717.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0001 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0159 a0001c0001t0008g0127 a0001c0001t0013g0011 a0001c0001t0001g0159 a0001c0001t0008g0127 a0001c0001t0013g0011	3	223	0.0135	-191	c.-99 others(19): Show c.-99+10847_-99+11037del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687920	ATATGTGT others(184): Show ATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACA TATATAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATAC ACATATATAAATGTGTGTACAATATACACATATATAATATGTGTGTACAA TATACACATATATATGTGTGTACAATATACACATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG03195.hp1 HG01255.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0017 a0001c0003t0002 a0001c0003t0017	a0001c0003t0002g0023 a0001c0003t0017g0123 a0001c0003t0002g0023 a0001c0003t0017g0123	2	352	0.0057	-191	c.34 others(11): Show c.3423_*3613del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2557		chr15	TogoVar
NCAPD3_chr11_134145113_134228967	134166426	GGGCACAC others(184): Show GGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGT GAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGC ACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAG CTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0024	a0001c0012t0024g0204 a0001c0012t0024g0205 a0001c0012t0024g0204 a0001c0012t0024g0205	2	370	0.0054	-191	c.357 others(19): Show c.3573+1379_3573+1569del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
NEU4_chr2_241804193_241822413	241805248	TCCCTCCC others(184): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0022 a0005c0018t0001g0022	1	319	0.0031	-191	c.-40 others(11): Show c.-4029_-3839del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3944		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807221	CTCCCCCC others(184): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA GCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01975.hp2 HG02071.hp2 others(2): Show HG00323.hp2 HG01975.hp2 HG02071.hp2 HG02735.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0002c0003t0002	a0001c0001t0003g0188 a0001c0002t0001g0050 a0001c0002t0006g0004 others(2): Show a0001c0001t0003g0188 a0001c0002t0001g0050 a0001c0002t0006g0004 a0001c0004t0001g0005 a0002c0003t0002g0036	5	319	0.0157	-191	c.-20 others(11): Show c.-2056_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1971		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587070	TATATATA others(184): Show TATATATACATATATATACATATATATACACATATATATACATATATATA CATATATATACATATATACACATATATATACATATATACACATATATACA CATATATATACACATATATATACACATATATATACACATATATATATACA TATATATACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	372	0.0027	-191	c.184 others(19): Show c.1844+1782_1844+1972del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587074	TATACATA others(184): Show TATACATATATATACATATATATACACATATATATACATATATATACATA TATATACATATATACACATATATATACATATATACACATATATACACATA TATATACACATATATATACACATATATATACACATATATATATACATATA TATACATATATATATACATACATATATATATATACACATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0215 a0001c0001t0001g0189 a0001c0001t0001g0215	2	372	0.0054	-191	c.184 others(19): Show c.1844+1778_1844+1968del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NSRP1_chr17_30111816_30191475	30138996	CAAGCTCC others(184): Show CAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTATAGGCGCCTGCTACCATGCCTAGCTAATATTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCC TGACCTCCTGATCCAACCGCCTCAGCCTCCCAAAGTGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 NA19043.hp1 HG03139.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140	3	282	0.0106	-191	c.114 others(19): Show c.114+20825_114+21015del	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTM_chr11_131365615_132341822	131789445	GAAGAAGA others(184): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGA AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	-191	c.83- others(19): Show c.83-122086_83-121896del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	952239	GGGGGGGC others(184): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	242	0.0041	-191	c.360 others(19): Show c.360+26889_360+27079del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR5A1_chr11_59431469_59456380	59446319	TCTCTATT others(184): Show TCTCTATTGTGTTCTATTGGTCTACGTGTCTGTTTTTGTACAAGTACCAT GTTGTTTTGGTTACCATAGACTTGTAGTATAGTTTGAAGTCAGGGAGTGT AATGCCTCCGGCTTTGTTCTTTTTGCTTAGGATTGTCTTGACTATACTAG CTCCTTGATTTTAACCATGCCATTCCTTTACCAGTTCAGGAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0003 a0001c0001t0057g0003	1	408	0.0025	-191	c.22 others(11): Show c.2206_*2396del	OR5A1	ENSG00000172320.4	transcript	ENST00000641045.1	protein_coding	2/2	2206	INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP2R5C_chr14_101756709_101932977	101782354	TCTCTCTC others(184): Show TCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCC TTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCT TCCCCTCCCTCTCTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCT CTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18612.hp1 HG02132.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0067 a0002c0002t0001g0102 a0001c0001t0001g0067 a0002c0002t0001g0102	2	138	0.0145	-191	c.94- others(15): Show c.94-3631_94-3441del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41855960	CCCTCCCT others(184): Show CCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCC TTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTC CTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0135 a0001c0005t0006g0135	1	406	0.0025	-191	c.285 others(17): Show c.285+1025_286-1143del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
RALGAPA2_chr20_20384530_20717644	20655441	ACTTGAGC others(184): Show ACTTGAGCTGAGACTTAGAAGATGAATTAAATTCGCCTAGTGGATAGGGA CAGAAGGAATGCCATGGGAGAATGTTAGAAGGCCAACACAGCTTGGTGCC TTACAGGAACCACAGCAGCAGGAGGGTCAGTTTGGCTGGTAGGCAGTGAG AAGGGGAGGAGATGGGCCTGGAGAGGCAGGCGAGGCTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG02258.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0037 a0001c0007t0036 a0001c0007t0037	a0001c0007t0036g0086 a0001c0007t0037g0085 a0001c0007t0036g0086 a0001c0007t0037g0085	2	122	0.0164	-191	c.271 others(17): Show c.271-2045_271-1855del	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	3/39			chr20	TogoVar
RASGEF1C_chr5_180095795_180214211	180113494	CCGGGGAT others(184): Show CCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGACCGGGGATGGAC GGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGG GATGGACGGAGGGATCGGGGATGGACGGAGGGATCCGGGGATGGACGGAG TGACCGGGGATGGACGGAGGGACCGGGGATGGATGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0358 a0001c0002t0041g0358	1	370	0.0027	-191	c.117 others(17): Show c.1179+761_1179+951del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RBM26_chr13_79313868_79411255	79372967	TATAAGAT others(184): Show TATAAGATATATCTTATATATTACATATTTTATATAATATATAAGATATA TCTTATATATTACATATTTTATATAATATATAAGATATATCTTATATATT ACATATTTTATATAATATATAAGATATATCTTATATATTACATATTTTAT ATAATATATAAGATATATCTTATATATTATATATTTTATGTA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	328	0.0031	-191	c.328 others(17): Show c.328-1228_328-1038del	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
ROR2_chr9_91717601_91955228	91798395	CGGGGCTG others(184): Show CGGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTG TGGGCGGGGCTGACACCCTGGGCTCTGTAGGTGGGGAATGACACCCTGGG ATCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGAATGACACC CTGGGATCTGTGGGTGCAGCTGACGCCCTGGGCTAGTGAGTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01169.hp2 others(33): Show HG00642.hp1 HG00741.hp1 HG01169.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18982.hp2 NA18998.hp1 NA19056.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19089.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0005 a0001c0010 others(12): Show a0001c0001 a0001c0005 a0001c0010 a0001c0042 a0002c0004 a0002c0006 a0002c0007 a0002c0013 a0003c0003 a0004c0002 a0005c0021 a0006c0011 a0007c0012 a0009c0016 a0010c0038	a0001c0001t0001 a0001c0005t0003 a0001c0010t0004 others(14): Show a0001c0001t0001 a0001c0005t0003 a0001c0010t0004 a0001c0042t0015 a0002c0004t0003 a0002c0004t0012 a0002c0006t0004 a0002c0007t0001 a0002c0013t0003 a0003c0003t0002 a0004c0002t0002 a0004c0002t0008 a0005c0021t0005 a0006c0011t0001 a0007c0012t0003 a0009c0016t0007 a0010c0038t0004	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0071 others(33): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0071 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0005t0003g0018 a0001c0005t0003g0102 a0001c0005t0003g0148 a0001c0005t0003g0155 a0001c0005t0003g0171 a0001c0010t0004g0109 a0001c0042t0015g0225 a0002c0004t0003g0072 a0002c0004t0003g0112 a0002c0004t0003g0161 a0002c0004t0012g0114 a0002c0006t0004g0075 a0002c0006t0004g0086 a0002c0007t0001g0012 a0002c0013t0003g0058 a0002c0013t0003g0105 a0003c0003t0002g0118 a0003c0003t0002g0119 a0004c0002t0002g0057 a0004c0002t0002g0125 a0004c0002t0008g0203 a0005c0021t0005g0002 a0006c0011t0001g0209 a0006c0011t0001g0222 a0007c0012t0003g0164 a0009c0016t0007g0121 a0010c0038t0004g0096	36	226	0.1593	-191	c.98- others(17): Show c.98-22768_98-22578del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RPH3AL_chr17_207389_357807	334540	AGCTCCTT others(184): Show AGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCATCCACTGTGGAG GGACAGGGACAAGGACAGGGACAAGGCAACCACCCCACCCAGTGCAGCTC CTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCGTCCACTGTGGAGGGACA GGGACAAGGACAGGGACAAGGCAACCACCCCCAGCAAGTGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(39): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG02895.hp2 HG03017.hp2 HG04184.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18951.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19074.hp1 NA20805.hp2 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0030 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0004c0007t0007 a0006c0009t0001	a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0114 others(39): Show a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0116 a0001c0001t0003g0098 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0006g0095 a0001c0001t0007g0032 a0001c0001t0007g0097 a0001c0001t0009g0066 a0001c0001t0010g0131 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0023 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0020g0127 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0001t0035g0074 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0033 a0001c0002t0007g0112 a0001c0003t0030g0122 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0004g0014 a0001c0004t0026g0013 a0004c0007t0007g0117 a0006c0009t0001g0054	42	133	0.3158	-191	c.-21 others(17): Show c.-212-797_-212-607del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPS5_chr19_58382269_58399804	58389676	GCCCAGGC others(184): Show GCCCAGGCTGGAGTGCAATGGCACGATCTTAGCTCACCACAACCTCCGCC TCCCGGGTTCAAGCAATGCTCCCGCCTCAGCCTCCCAAGTAGCTGAGATT ACAGGCGCACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGTTAGGCTGGTCTCGAACTCCTGAC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	432	0.0023	-191	c.108 others(17): Show c.108+1433_108+1623del	RPS5	ENSG00000083845.9	transcript	ENST00000196551.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SDHA_chr5_213320_262082	260111	TCAGAGCA others(184): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGA GCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	266	0.0038	-191	c.36 others(11): Show c.3692_*3882del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3030		chr5	TogoVar
SIGLEC10_chr19_51405020_51422642	51418034	CTGGAGGG others(184): Show CTGGAGGGGGCTGGTCTTGTCAGGTAAAATGCAGGATGCCTGGTTAAAGC TTTCACAGACAATATAAAGTATTTTATTTTATGTTTTTTGGTATAAGTAT GTCCGAAATGCTGCATGGGATATACTTATACCAGAAAGCAAAATAAATTT ATCTGAAATTCAAATTAATTAATTAATTAATTATATTTTGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0127 a0004c0004t0003g0127	1	420	0.0024	-191	c.-64 others(9): Show c.-644_-454del	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding		393		chr19	TogoVar
SLC22A24_chr11_63074940_63149221	63113032	AAAAATAT others(184): Show AAAAATATATATATATATATATACATATATATATATACATATATATACAC ATATATATACATATATATATACATATATATACACATATATATATACATAT ATATATACACATATATATATACATATATATATACACATATATATACATAT ATATATACACATATATATATACATATATATACACATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0159 a0005c0005t0001g0159	1	366	0.0027	-191	c.830 others(17): Show c.830+5689_830+5879del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113034	AAATATAT others(184): Show AAATATATATATATATATATACATATATATATATACATATATATACACAT ATATATACATATATATATACATATATATACACATATATATATACATATAT ATATACACATATATATATACATATATATATACACATATATATACATATAT ATATACACATATATATATACATATATATACACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00733.hp1 others(15): Show HG00099.hp2 HG00323.hp1 HG00733.hp1 HG00733.hp2 HG01099.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG02083.hp2 HG02897.hp2 HG03491.hp1 HG03491.hp2 NA18747.hp2 NA18955.hp2 NA18977.hp1 NA18999.hp2 NA19070.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0010c0010	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0010c0010t0006	a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0190 others(14): Show a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0285 a0001c0001t0001g0344 a0002c0002t0001g0109 a0002c0002t0001g0293 a0002c0002t0001g0300 a0004c0004t0001g0004 a0004c0004t0001g0124 a0004c0004t0001g0179 a0004c0004t0001g0236 a0004c0004t0001g0306 a0010c0010t0006g0362	18	366	0.0492	-191	c.830 others(17): Show c.830+5687_830+5877del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113036	ATATATAT others(184): Show ATATATATATATATATATACATATATATATATACATATATATACACATAT ATATACATATATATATACATATATATACACATATATATATACATATATAT ATACACATATATATATACATATATATATACACATATATATACATATATAT ATACACATATATATATACATATATATACACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02293.hp2 HG02698.hp1 others(16): Show HG00323.hp2 HG02293.hp2 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18965.hp1 NA18982.hp1 NA18984.hp1 NA19003.hp1 NA19064.hp1 NA19079.hp1 NA19087.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0025 a0002c0002 a0002c0025	a0002c0002t0001 a0002c0025t0001 a0002c0002t0001 a0002c0025t0001	a0002c0002t0001g0118 a0002c0002t0001g0136 a0002c0002t0001g0154 others(16): Show a0002c0002t0001g0118 a0002c0002t0001g0136 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0267 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0337 a0002c0025t0001g0153	19	366	0.0519	-191	c.830 others(17): Show c.830+5685_830+5875del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC39A3_chr19_2727524_2745017	2730827	TGGGGGGT others(184): Show TGGGGGGTCTCAGGAGCAGGGGCTGAACCCCAGGTTACTTACAGACCCCC TGGAGTGGAAGTTGGGGGGTCTCAGGAGCAGAGGTGGAACCCTGGGTTAC GTACCGACCTCCTGGAGTGGAAGTTGGGGGGGGTCTCAGGAGCAGAGGCT GAACCCCAGGTTACTTACAGACCCCCTGAAGTGGAAGTTGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	-191	c.17 others(11): Show c.1733_*1923del	SLC39A3	ENSG00000141873.11	transcript	ENST00000269740.9	protein_coding		1696		chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79919685	AGGTCAGT others(184): Show AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAAC CGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGT CAGGGTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(10): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01109.hp2 HG01256.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02735.hp1 HG03669.hp1 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011	a0001c0001t0005g0009 a0001c0001t0005g0026 a0001c0001t0005g0145 others(9): Show a0001c0001t0005g0009 a0001c0001t0005g0026 a0001c0001t0005g0145 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0205 a0001c0001t0005g0214 a0001c0001t0007g0209 a0001c0001t0009g0190 a0001c0001t0011g0012	13	352	0.0369	-191	c.392 others(15): Show c.392-476_392-286del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919732	AGGAGAGA others(184): Show AGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGG AACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGA GGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCA GTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	352	0.0028	-191	c.392 others(15): Show c.392-523_392-333del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921411	GAGGAGAG others(184): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTC AGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18942.hp1 NA18947.hp1 others(1): Show HG01952.hp2 NA18942.hp1 NA18947.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0004 a0002c0006t0040 a0001c0001t0004 a0002c0006t0040	a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0176 others(1): Show a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0176 a0002c0006t0040g0335	4	352	0.0114	-191	c.392 others(17): Show c.392-2202_392-2012del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921562	GAGGAGGA others(184): Show GAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGT CAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG06807.hp2 HG02723.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0269 a0001c0001t0007g0274 a0001c0001t0021g0268 a0001c0001t0007g0269 a0001c0001t0007g0274 a0001c0001t0021g0268	3	352	0.0085	-191	c.392 others(17): Show c.392-2353_392-2163del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921565	GAGGAGAG others(184): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAG TGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	352	0.0028	-191	c.392 others(17): Show c.392-2356_392-2166del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12587344	CTCCAGCT others(184): Show CTCCAGCTTCAGCTACCTGCTCTGTAATAAGACAATGCCAGAGTGATTCT CATATAATTTCGAGCTCTAAATATATTGCTAAATATATATTTTAGCACTG ATAAGGTAGCCAAAGCAAGAGAATGAAAATAAAGGCTGGATCAACTGGCC CAGGAGCATATTCTAAGAGAACACAGAAAGGTTCTCAATTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01433.hp1 others(7): Show HG01168.hp2 HG01169.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG02004.hp2 HG02273.hp1 NA18952.hp2 NA19000.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0289 others(7): Show a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0305 a0001c0001t0003g0314 a0001c0001t0003g0317	10	328	0.0305	-191	c.373 others(19): Show c.373-40631_373-40441del	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
TERT_chr5_1248167_1300068	1273451	CTGTGACC others(184): Show CTGTGACCGATCGCCATCCACAGTCACCACACATCAGACCCCCGGGACCA ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGGA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0386 a0001c0026t0001g0386	1	392	0.0026	-191	c.228 others(19): Show c.2287-1362_2287-1172del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151855	GGTGAGAA others(184): Show GGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	228	0.0044	-191	c.44 others(11): Show c.4484_*4674del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4113		chr4	TogoVar
UMPS_chr3_124725452_124754273	124750031	CCCTCCCT others(184): Show CCCTCCCTCCGGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCC CACCTCCCGGACAGGGCGGCTGGCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCT CCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0008 a0001c0001t0061g0008	1	434	0.0023	-191	c.59 others(11): Show c.5948_*6138del	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		759		chr3	TogoVar
WDR70_chr5_37374318_37758435	37504234	ATAGTTGA others(184): Show ATAGTTGATGATATTTGAGTGAGTTTATTTTGGGGCTTTCCCTTGTGTTT TATGGGTATGTGTTTATCTTTTTCTGATACAGTACCATTCTGTCTTGATT ACTGTAGCTTTTTTTCCCTTTTCAACGCTTTATATCATTTATTAATGCAG TATATATTAGATCTAAAATCTGCAGTTTCTAAGCACACCATG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18956.hp1 NA18983.hp1 others(3): Show NA18954.hp1 NA18956.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0167 a0001c0001t0001g0222	6	242	0.0248	-191	c.841 others(19): Show c.841-12278_841-12088del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
XAF1_chr17_6751046_6780647	6758754	TAGTCCTC others(184): Show TAGTCCTCCCTGCAGGTGAGATGGGGTCTGGGAGTCAAGGAGAGTGTTCA GTCCTCCCTGCAGGTGAGATGGGGTCTGGGAGGGGCAAGTGTTCCATCTT CCCTGCAGGAGAGATGGGATCTGGGAGTCACAGAGTGGGTCCAGTCCTCC CTGCAGGAGAGATGGGGTCTGAGAGTTGGGGGACGAGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	448	0.0022	-191	c.168 others(15): Show c.168+564_169-684del	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
XPO6_chr16_28092976_28216965	28094612	ATCTAATA others(184): Show ATCTAATAATATGAGAAAATGGTCACAACATATTAAATAAAAAGGAGGCC ATAAAACAGCAGGATCTCGGCCAGGTGCAGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCTGAGGCTGGAAGATCACTTGAGCCTAGGAATTCAA AACCAGCCTGGGAAACACAGCGAGACCTTGTCTCTGTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0091 a0005c0012t0001g0091	1	308	0.0033	-191	c.37 others(11): Show c.3735_*3925del	XPO6	ENSG00000169180.12	transcript	ENST00000304658.10	protein_coding		3363		chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289147	TCCCGTGT others(183): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	295	0.0034	-190	c.42 others(11): Show c.4227_*4416del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3243		chr1	TogoVar
ACMSD_chr2_134833616_134907034	134895368	TATGTTAC others(183): Show TATGTTACAAAACATTGTTGAAGAAAATTAAAGAAGACCTAAATGAAAAG ACATTCCATGTTCATTGATTCAAAAACTTAATGTTGCTAACTGGCAATAC CCCCCAAATTGATCTACAGATCCAATGCAATTGCTATCAAAATTCCAGAT GTCTTTTTTTTTTGGCAAAAATTGATAAGCTGATCCAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	382	0.0026	-190	c.850 others(17): Show c.850-2972_850-2783del	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100313716	ACACCCCA others(183): Show ACACCCCAAATGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACG TCACCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCACCATGAAGA AACGTCAGACAAAACCATCCCAAACGTCACCATGAAGAAACGTCAGACAA AACCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0015 a0001c0005t0009g0015	1	228	0.0044	-190	c.616 others(19): Show c.616+16983_616+17172del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1237952	GCCTCCCG others(183): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0081 a0001c0001t0056g0081	1	106	0.0094	-190	c.136 others(19): Show c.1361+3989_1362-4108del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238871	CCCCTCTG others(183): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	-190	c.136 others(19): Show c.1361+3070_1361+3259del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANAPC10_chr4_144989576_145103196	145038821	CAAAAAAA others(183): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTA TAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGACATCAC TTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTG GCATTGTATTTCTCAACATTTACAATAAAAACAATGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	336	0.0030	-190	c.327 others(19): Show c.327+25561_327+25750del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89389949	GAGAGAAG others(183): Show GAGAGAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACCGAGAG AGAAGATCACTGGGGCGAACACCGAGTGTGACGGGGAGCACCGAGAGAAA GAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACAGACAGAGAA GATCACTGGGGCGAACACCGAGTGTGGCGTGGAGCACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18962.hp2 HG02647.hp2 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0281 a0004c0004t0001g0152 a0001c0001t0001g0281 a0004c0004t0001g0152	2	310	0.0065	-190	c.-60 others(19): Show c.-60+28145_-60+28334del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400373	ACGGTCAT others(183): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01261.hp2 others(21): Show HG01081.hp1 HG01106.hp2 HG01261.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02723.hp2 HG02895.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp1 NA18990.hp2 NA18993.hp1 NA19010.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0021	a0001c0001 a0001c0007 a0001c0018 others(7): Show a0001c0001 a0001c0007 a0001c0018 a0002c0002 a0003c0008 a0003c0013 a0003c0017 a0004c0004 a0007c0012 a0021c0040	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(8): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0002c0002t0002 a0003c0008t0001 a0003c0008t0003 a0003c0013t0001 a0003c0017t0003 a0004c0004t0001 a0007c0012t0001 a0021c0040t0002	a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0001g0080 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0247 a0001c0007t0001g0148 a0001c0018t0001g0278 a0002c0002t0002g0022 a0002c0002t0002g0113 a0002c0002t0002g0167 a0002c0002t0002g0173 a0002c0002t0002g0243 a0003c0008t0001g0016 a0003c0008t0003g0044 a0003c0013t0001g0048 a0003c0013t0001g0150 a0003c0017t0003g0028 a0004c0004t0001g0234 a0004c0004t0001g0259 a0004c0004t0001g0261 a0007c0012t0001g0128 a0021c0040t0002g0246	24	310	0.0774	-190	c.-60 others(19): Show c.-60+17721_-60+17910del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400525	ATGGTCAT others(183): Show ATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0003 a0034 a0003 a0034	a0003c0003 a0034c0023 a0003c0003 a0034c0023	a0003c0003t0001 a0034c0023t0001 a0003c0003t0001 a0034c0023t0001	a0003c0003t0001g0202 a0034c0023t0001g0023 a0003c0003t0001g0202 a0034c0023t0001g0023	2	310	0.0065	-190	c.-60 others(19): Show c.-60+17569_-60+17758del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar

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Search Results (Total: 10000 hits)