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
MYOM2_chr8_2040046_2150456	2085563	CGTGGCCC others(654): Show CGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCT CTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT CATGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0088 a0088	a0088c0172 a0088c0172	a0088c0172t0001 a0088c0172t0001	a0088c0172t0001g0033 a0088c0172t0001g0033	1	403	0.0025	-661	c.164 others(17): Show c.1644+182_1644+842del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085572	ACTGTTGT others(654): Show ACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACT GTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC CACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTC TTTGTGGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 HG02027.hp1 HG02523.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0313 a0007c0010t0001g0314 a0007c0010t0001g0313 a0007c0010t0001g0314	2	403	0.0050	-661	c.164 others(17): Show c.1644+184_1644+844del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H2_chr9_122839556_122910359	122867366	GAGACCCT others(654): Show GAGACCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGGGAGGTTGGGGGGT CAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGTGAGGGGCGCCTCTG CCCGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTGCCC AGTCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCATCCCATCTAGGAAGT GAGGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGATGTGGGGAGCGCCT TTGCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCG ACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGA AGGGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGC CCCTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCCC GGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTAC TGGGAAGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp2 others(13): Show HG00099.hp2 HG00639.hp1 HG00735.hp2 HG01109.hp2 HG01346.hp2 HG01934.hp2 HG02055.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0011t0002 a0001c0001t0001 a0001c0002t0002 a0001c0011t0002	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(13): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0011t0002g0109	16	320	0.0500	-661	c.132 others(19): Show c.1326-2370_1326-1710del	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
SIGIRR_chr11_400716_419999	400794	CCCGCCCC others(654): Show CCCGCCCCGCTCACCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGC CCCGCTCACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCG CTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCC GGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCC GCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	242	0.0041	-661	c.44 others(11): Show c.4441_*5101del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4921		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072459	GAGCCCCC others(654): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	118	0.0085	-661	c.224 others(18): Show c.2241+513_2241+1173del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SPANXA2_chrX_141584708_141595762	141595047	TGCACTCC others(654): Show TGCACTCCGGCTTGGGTGACAGAGCCAGACTGTCTCAAAACAACAAAAAC AAAAACAAGAAATCACCGATCCATTTGAAAGTCAGCAAATATTTTGTCAT TGACTAAATATAGACCCTAGAGAGTGATCCCCATACACCACACTACAACT TAAGACTGATTCTATTTCTTAAGCATCCTTTGGAGGTCATCACGTTTTTG AACTCTTGTAATAACAGGGGACTTGAACTCATTTCAGACAGCAAACCTCG TCCTGTGTTATCTTATGCTCTGGGAGGAATCTAAAAGACAAGGAAGTAAG GAAGAAAGAAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGAAAGGAGAAGAGGAGAGAAGAGAGGAGACGA GCTTAAACCCAAATTGGTAGAAAGCTTCACAAGTCTGAATACTTAACAAG TTAAATTAAGTAGCTAAAGATGTTTTTGAAAATCATCTGAGCAAACAAAA AATGATTCTGAAAAATATTTGGTAATGTAATAATGACAATGGGTTATTTC TTCTATCCTTGATCTCCTACAAATATATTTTAAGCCAGATCATGTTTTTC CTTTGATGAAAACTCCACAGAGTTTTCATCTTCATGAAAATAAAATCCAA ATTCCTAATAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	-661	c.43 others(11): Show c.4340_*5000del	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding		4286		chrX	TogoVar
UPF2_chr10_11915022_12047809	11998610	TGGGAGGC others(654): Show TGGGAGGCCGAGGTGGGTGGATCACGTGAGGTCAGGAGTTCAAGACCAGC CTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATATAAAAAATTAGC CGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAACA TGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAA ATAAAAAATAAAAAGATTAGCTGGGCGTGGTGGTGCACGCCTGTAGTCCC AGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGACAAA GGTTGCAGTGAGCCAAGACCGTGCCACTGCACTCCAGACCGGGCAACAGA GCAAGACTCCACTCAAAAAAAAAAAAAAAAACTCATTTGTATGGACTCAA CAAGGAGACTCTTAAGTGACAGTGGCACTGTTTTTTTAATTGCAAATGCA TGGTGAAAATATAATGCTAGTATAATTTGGTACCACTACCTTGAATCATG ATAAAATGCTAGTAGCTCTACCCACCATCACTTTTGCAAATGTCAAAACA ATAAAAAAGAAAAAAAAACATCGGCCGGGTATGGTGGCTCATGCCTGTAA TCCGAGCACTTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	334	0.0030	-661	c.175 others(17): Show c.1758+635_1759-854del	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	7/21			chr10	TogoVar
ASMT_chrX_1610059_1648081	1638665	GTCCTGTG others(653): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	223	0.0045	-660	c.910 others(17): Show c.910+2148_910+2807del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640587	ACATGAGG others(653): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC TCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01884.hp1 others(7): Show HG00639.hp2 HG01175.hp2 HG01884.hp1 HG02155.hp1 HG02602.hp2 HG02622.hp1 HG03834.hp1 NA19082.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0012c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0012c0007t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0164 others(7): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0164 a0001c0003t0001g0107 a0002c0002t0001g0018 a0002c0002t0001g0074 a0002c0002t0002g0154 a0002c0002t0002g0183 a0002c0002t0002g0217 a0012c0007t0001g0036	10	223	0.0448	-660	c.911 others(17): Show c.911-2147_911-1488del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640713	GTGTCCCA others(653): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGT GATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp1 NA18939.hp1 others(9): Show HG02165.hp1 HG03831.hp1 NA18939.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18992.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19074.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0013 a0001c0001 a0001c0003 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0008c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0039 a0001c0001t0002g0147 a0001c0003t0001g0092 a0008c0013t0001g0101	12	223	0.0538	-660	c.911 others(17): Show c.911-2070_911-1411del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
C1orf159_chr1_1076823_1121089	1077331	CGGGAGGC others(653): Show CGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGG GACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0131 a0001c0002t0005g0131	1	326	0.0031	-660	c.49 others(11): Show c.4902_*5561del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4491		chr1	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(653): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02074.hp1 HG02258.hp1 others(1): Show HG01099.hp1 HG02074.hp1 HG02258.hp1 NA20905.hp1	a0007 a0010 a0031 others(1): Show a0007 a0010 a0031 a0047	a0007c0008 a0010c0011 a0031c0065 others(1): Show a0007c0008 a0010c0011 a0031c0065 a0047c0035	a0007c0008t0002 a0010c0011t0001 a0031c0065t0001 others(1): Show a0007c0008t0002 a0010c0011t0001 a0031c0065t0001 a0047c0035t0001	a0007c0008t0002g0050 a0010c0011t0001g0241 a0031c0065t0001g0232 others(1): Show a0007c0008t0002g0050 a0010c0011t0001g0241 a0031c0065t0001g0232 a0047c0035t0001g0161	4	246	0.0163	-660	c.212 others(18): Show c.2121-1430_2121-771del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CYP4F11_chr19_15907377_15939529	15933263	AGGAGAGG others(653): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGCAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAA TGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	386	0.0026	-660	c.198 others(15): Show c.198+288_198+947del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713537	TCACCTCC others(653): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCA CCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCC CATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCC TCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18971.hp1 NA19067.hp2 NA18955.hp1 NA18971.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	412	0.0073	-660	c.30 others(11): Show c.3013_*3672del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1029		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	CCACCTCC others(653): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCT TCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACAC CATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTT CCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	412	0.0024	-660	c.29 others(11): Show c.2969_*3628del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713635	CACCCTTC others(653): Show CACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACA CCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCC TCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACC CTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCAC CCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACACCATC CCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCAC TTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTA CACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCA CCACCTTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	412	0.0024	-660	c.29 others(11): Show c.2915_*3574del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		931		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713644	TCCCATTC others(653): Show TCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCT CACTTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTC CTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCT CAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02300.hp2 HG02717.hp1 others(2): Show HG02055.hp1 HG02300.hp2 HG02717.hp1 HG03491.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0001t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0015g0053 a0001c0002t0001g0002 others(1): Show a0001c0001t0001g0008 a0001c0001t0015g0053 a0001c0002t0001g0002 a0001c0002t0001g0083	5	412	0.0121	-660	c.29 others(11): Show c.2906_*3565del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		922		chr19	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(653): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNN	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0158 a0001c0034t0004g0158	1	183	0.0055	-660	c.107 others(21): Show c.1078-20332_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132290830	TCCACAGC others(653): Show TCCACAGCGCACACGTCCACAGCACCCACAACCACAGCGCCCACGTCCAC ATCACCCACATCCACAGCACCCACGTCCACAGCACCCACATCCAGAGCAC CCACGTCCACACCACCCACATCCACAGCGCCCACATCCACAGCACCCACA ACCACAGCACCCACAACCACAGTGCCCACGTCCACACCACCCACATCCAC AGCGCCCACGTCCACAGCGCCCACATCCTCAGCACCCACAACCACAGCAC CCACGTCCACATCACCCACGTCCATAGCACCCACATCCACAGCACCCACA TCCACAGCACCCACAACCACAGCACCCACGTCCACAGCACCCACAACCAC AGCACCCACAACCACAGTGCCCACGTCCACACCACCCACATCCACAGCGC CCACGTCCACAGCGCCCACGTCCTCAGCGCCCACAACCACAGCACCCACG TCCACATCACCCACGTCCATAGCACCCACATCCACAGCACCCACATCCAC AGCACCCACAACCACAGCACCCACGTCCACAGCACCCACGTCCACAGCAC CCACGTCCACAGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACA ACCACAGCGCCCACGTCCACATCACCCACATCCACAGCACCCACGTCCAC AGCACCCACAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	183	0.0055	-660	c.239 others(17): Show c.239-5060_239-4401del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79808061	TCGCCCTG others(653): Show TCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGG GGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	312	0.0032	-660	c.-11 others(21): Show c.-115+10051_-115+10710del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	953105	ACACCCCA others(653): Show ACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCACCCCAAACC AGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCAC ACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCC ACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAA CCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACAC CCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCC TCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCC ACACAGACACC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	294	0.0034	-660	c.503 others(16): Show c.503+592_503+1251del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953325	CCACCCCA others(653): Show CCACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAG CCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCAC ACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCA AACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0016 a0016	a0016c0065 a0016c0065	a0016c0065t0001 a0016c0065t0001	a0016c0065t0001g0140 a0016c0065t0001g0140	1	294	0.0034	-660	c.503 others(16): Show c.503+372_503+1031del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953351	TCACACAG others(653): Show TCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCAC GTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAG ACACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCC TCCTACACGTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	294	0.0034	-660	c.503 others(16): Show c.503+346_503+1005del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953364	GACCCCAA others(653): Show GACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACA CCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCC TACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA CGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC CACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCA CACAGACACCC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19066.hp1 HG02165.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	294	0.0068	-660	c.503 others(15): Show c.503+333_503+992del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2035493	CGGGACAG others(653): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTGGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGA CAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGT CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTTGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(8): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01975.hp2 HG02055.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0004t0001g0092 others(8): Show a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	11	264	0.0417	-660	c.121 others(21): Show c.1219-21511_1219-20852del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MCF2L_chr13_112964214_113104742	113067670	GCGGAGGC others(653): Show GCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCACAGCTGGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGTGA GCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAG GCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAACGCTGGAG TGCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0091 a0001c0005t0029g0091	1	116	0.0086	-660	c.881 others(17): Show c.881+1557_882-1673del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MLPH_chr2_237482251_237560322	237544528	GGACAGTT others(653): Show GGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGG ACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGC ACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGG GGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGG GGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGA GTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03704.hp2 HG03130.hp1 HG03704.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0001 a0010c0016t0002 a0001c0001t0001 a0010c0016t0002	a0001c0001t0001g0258 a0010c0016t0002g0075 a0001c0001t0001g0258 a0010c0016t0002g0075	2	286	0.0070	-660	c.153 others(19): Show c.1539+1870_1540-1418del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
PPP2R3B_chrX_328933_391907	365909	ATGCCTGT others(653): Show ATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTCA ACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCA GCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAAC CAGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGC AGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAGATCG CACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACA AAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTAC TCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGGTGC AGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGA CTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGGTGCC TGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACA GGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTG GGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGT GTGGTGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	25	0.0400	-660	c.325 others(17): Show c.325-4979_325-4320del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
RNF223_chr1_1065967_1079306	1077331	CGGGAGGC others(653): Show CGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGG GACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0038 a0002c0014t0001g0038	1	324	0.0031	-660	c.-39 others(11): Show c.-3985_-3326del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3026		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80860886	GCTCCTGA others(653): Show GCTCCTGATTTCCTGAGCTGGATGCGGGGAGCTGCTGCTCTTCCTCTCAG CACAGCTGAGGTTGACCTTGACCTCAGTTCAACCTTGAACCCTCCTGGGC CCAGTGCTCTGCACCTGGCTGTGACCAGAGAACGCTCCATAATGGTGACC TGAATACCATATATTTCAGCAAAATATTTTCCCTGCTACCCATTAAACTA CAGATAAAGAATGACTGCTTTGAAAGATTGGCTAAAGCACTGGATTTAAG GTTAAAACCCTGAGTTTGATCCCATCACCGCATTTGCTCTTACAAGTCAT TTTCACTTCCCTTGGCCATGATTTGCCTCTGTAAAATCATGAGCCTTCGG CCGTCTGCCTTCAGCCACAGTTCCAGAGCTCAGAACCAGGACGTGGAAAA CTGCTGTGTAAATTATAGAGGAACAGGAACAGGACCAGGAAGGGGCACCA CGTAAATCTCACATCTCTCCTGCCTGTCCCTGTTACACTAAAACCTTTTC TTGCTAAACAGAAAGCTTGGCTTTGTGGATCAGGACGCGAGAGGTGTGGG TCATTTCTATTTTACTCTTCTTCAAATTCACTGAAGAGCCACATTATGTA AACAAAGGGTGTTTGGCAGGAAGTCATTTTGAAACGTGGTTTCTGTCCTA CACCCATATCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01168.hp2 others(16): Show HG00140.hp2 HG00323.hp1 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG02015.hp2 HG02273.hp2 HG02602.hp2 HG03017.hp1 HG03654.hp2 HG03688.hp1 NA18963.hp1 NA19005.hp1 NA19070.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0010 others(8): Show a0001c0003 a0001c0008 a0001c0010 a0001c0013 a0001c0019 a0001c0024 a0001c0027 a0001c0030 a0001c0032 a0001c0036 a0001c0076	a0001c0003t0001 a0001c0003t0013 a0001c0003t0014 others(13): Show a0001c0003t0001 a0001c0003t0013 a0001c0003t0014 a0001c0003t0038 a0001c0008t0054 a0001c0010t0056 a0001c0010t0071 a0001c0013t0013 a0001c0019t0003 a0001c0019t0042 a0001c0024t0037 a0001c0027t0096 a0001c0030t0003 a0001c0032t0097 a0001c0036t0004 a0001c0076t0011	a0001c0003t0001g0154 a0001c0003t0001g0182 a0001c0003t0013g0043 others(16): Show a0001c0003t0001g0154 a0001c0003t0001g0182 a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0008t0054g0169 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0013t0013g0062 a0001c0019t0003g0135 a0001c0019t0042g0089 a0001c0024t0037g0092 a0001c0027t0096g0060 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0032t0097g0053 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0076t0011g0084	19	196	0.0969	-660	c.150 others(19): Show c.1509+2987_1509+3646del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246184310	GGGAAAAC others(653): Show GGGAAAACCTTGTAACCACTGAAAAATTAGAACAGATAAATAGGAATGGG TCAGTATAATTAGTATCTTCTAATTATAGAAGCACCCAGATTGGCATCAA ACTCACCAACTCTTGGCTGTCTTCAACAATGACCAGGCCTCCTCTGGGGA GACTACTTCTTGCCATCCTCAATCTGTACCTCAGATGTGTGACTTCTTGC TTCTAACAATATCACAGATTATGGACTAAATGTTTGTGTCCTCCCAAAAT TCTTACGTTGCAGCCCTAACCCTCTGATTCTATTTGGAGAAGGGGCTTCT CAGACAGTAATTAAGGTTAAATGAGGTCATACAGGTGGGGACCTGACACA ATAGGATTAGTGTCCTCACAGGTAGAGACCAGAGAGCTCATTGACCTGCT CCCTTCCTCCCTGTGTGCTTGCATGAGGAAGGGCCATGTGAGGACTTAGC AAGGAGGCACCATCTGCAAGCCAGGAAGAGAGACCTCACCAGAAACCTAG TGGGCCAGAACCTTGTCTTAGGCTTCTAGTGTTGAGAACTGTGAGGAATT ATAAATTTCTGTTTTTTAAGCCACCCAGTCTGTGGAGTTTTGTTACAGTA CCCTGAGGTGGCTCAGACATACCTACCACATTGATGCTTAATAGTGACTA CCCAAACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	150	0.0067	-660	c.531 others(21): Show c.531+142231_531+142890del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1316699	CAGGCCAG others(653): Show CAGGCCAGCATTCGAGAAGGTTGGGATTCTGGAGCACTTAGCATCAGGGC AGCATTGGAGAAGGTTGGGATTCTGGAACATTTAGCATCAGGTCAGCATT GGAGAAGGTTGGGATTCTGGAGCATTTAGCATGAGGCCAGCATTGGAGAA GGCTGGGATTCTGGAGCGTTTAGCATGAGGCCAGCATTGGAGAAGGTTGG GATTCTGGAGCATTGAGCATCAGGCCAGCATTGGAGAAGGTTGGGATTCT GGAGCATTGAGCATCAGGCCAGCATTGGAGAAGGTTGGGATTCTGGAGCA TGTAGCATATGGCCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTTAGC ATCAGGGCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTTAGCATCAGG CCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTGAGCATCAGGCCAGCA TTGGAGAAGGCTGGGATTCTGGAACATTTAGCATGAGGCCAGCATTGGAG AAGGTTGGGATTCTGGAACATTTAGCGTCCGGCCAGCATTGGAGAAGGTT GGGATTCTGGAGCATTTAGCATCAGGGCAGCATTGGAGAAGGTTGGGATT CTGGAGCATTTAGCATCAGGCCAGCATTGGAGAAGGTTGGGATTCTGGAA CATTTAGCATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(74): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19043.hp1 NA19043.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0007 a0009 a0010 a0011 a0013 a0019 a0021	a0001c0001 a0001c0002 a0003c0007 others(12): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0006c0009 a0006c0010 a0007c0016 a0007c0017 a0007c0024 a0009c0013 a0010c0012 a0011c0018 a0013c0020 a0019c0025 a0021c0030	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0007t0001 a0003c0008t0001 a0003c0008t0002 a0006c0009t0001 a0006c0010t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0009c0013t0001 a0010c0012t0001 a0011c0018t0001 a0013c0020t0001 a0019c0025t0001 a0021c0030t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(74): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0120 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0004g0053 a0003c0007t0001g0055 a0003c0007t0001g0068 a0003c0007t0001g0184 a0003c0008t0001g0100 a0003c0008t0001g0130 a0003c0008t0001g0190 a0003c0008t0002g0072 a0006c0009t0001g0011 a0006c0009t0001g0050 a0006c0009t0001g0121 a0006c0009t0001g0163 a0006c0010t0001g0009 a0006c0010t0001g0012 a0006c0010t0001g0162 a0007c0016t0001g0005 a0007c0016t0001g0033 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0009c0013t0001g0042 a0009c0013t0001g0132 a0009c0013t0001g0164 a0010c0012t0001g0066 a0010c0012t0001g0166 a0011c0018t0001g0046 a0013c0020t0001g0142 a0013c0020t0001g0143 a0019c0025t0001g0034 a0021c0030t0001g0160	77	190	0.4053	-660	c.148 others(17): Show c.1488+336_1488+995del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIP13_chr5_887884_923120	897348	TTCAGTGT others(653): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATGCAG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	402	0.0025	-660	c.388 others(16): Show c.388+683_388+1342del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898401	TCAGTCAG others(653): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02602.hp1 HG04115.hp2 HG01952.hp2 HG02602.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0203 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0203	3	402	0.0075	-660	c.388 others(17): Show c.388+1739_389-1302del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TTLL1_chr22_43034516_43094391	43079906	GGCACTGA others(653): Show GGCACTGACAGAGCACCACTGGCAACGCCCACGCTCACCTCGGTCTCGCT GACGTCACTGACGCCGGCCCCTCCTTCTTCCCTAAAAGTTAACACACAGA TGAAATGTACATCAAACACATTAAGAAGACACTCTTTAACCATTTTTTGT TTGTTTTTGTTTTTTTGAGACAGGTTCTCACTCTGCTCAACCAGGCTGAA GTGCAGTGGTATGATCTCGGCTCACTGCAATCTCTGCCTCCCGGGTTCAA GTGATTCTCCTGCCTGAGCCTCCTAAGTAGCTGCAACTACAGGCGAGTGC CACCACACCCGGTTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCCCCA TGTTGGCCAGGCTGGTCTCAAACTCCCAGGCTCTAGCTATCTGCCCACCT CAGCCTCCCAAAGTGCTGGATTTATAGGCGTGAGCCACCGCGCCTGGCCT CTTTAACCATTTTAAGAATACTATGACAAAACCGTAACTAGCCAGAATAT TCAGTGGCTGGCATCTTGTTGAACAAATGTACACCAAAAGATGCTCTTAA GAGTCTTCCCATTACAGTAAGAATTTCTGAACTGTATTACTTACTGGCTC CAGCTGGCCTTCTCAAGCTGCCATACCACCCCTCATGTCACACACCCCTC ACTCCAGCTGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0079 a0001c0002t0018g0079	1	360	0.0028	-660	c.-89 others(11): Show c.-89-580_-10del	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/11	4321		chr22	TogoVar
UNKL_chr16_1358205_1419704	1373161	GCACAGGG others(653): Show GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCATGGAAC ACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACC TCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACC GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGC ACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0030 a0001c0014t0030	a0001c0014t0030g0013 a0001c0014t0030g0013	1	322	0.0031	-660	c.126 others(19): Show c.1265-2210_1265-1551del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
ZCCHC2_chr18_62518025_62583579	62580726	TGGTGTCA others(653): Show TGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGT CACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGC GCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTG GAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGC GAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTG GACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCC TCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTG TGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAG GCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGG TGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACC CCTCCCGAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01243.hp1 others(1): Show HG00642.hp2 HG01070.hp2 HG01243.hp1 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0061 a0001c0004t0003g0065 a0001c0004t0003g0066 others(1): Show a0001c0004t0003g0061 a0001c0004t0003g0065 a0001c0004t0003g0066 a0001c0004t0003g0067	4	312	0.0128	-660	c.41 others(11): Show c.4148_*4807del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2148		chr18	TogoVar
DLGAP2_chr8_732628_1713476	1571210	GAGGGTGA others(652): Show GAGGGTGAACTCTGGGGGTGTCTGATGAGATGGAGAAGAGAGAGGGGTGA ACTGGAGGGGTGTCTTCTGGGATGGAGAGGAGAGAGGTGAACTGTGCGGG CATCTGATGAGATGGGGAGGAGAGAGGGTGAACTGTGGGGGCATCTGATG AGATGGAGAGGAGAGAGGGGTGAACTGTGGGGGCATCTGATGAGATGGAG AGGAGAGAGGGTGAATTGTGGGGTGTCTGATGAGATGGAGAGGAGAGAGG GGTGAACTGTGGGGTGTCTGATGAGATGGAGAGGAGAAAGGGGTGAACTG GAGGGTTGTCTTCTGGGATGGAGAGGAGAGAGGAGTGAACTGTGGGGTGT CTGATGAGATGGAGAGGGGAGAGGGGTGAACTGGAGGGGCATCTTCTGGG ACGGAGAGGAGAGAGGGGGTGAACTATGGGGGCATCTGATGAGATGGAGA GAGAGAAGGGTGAACTGTGGGGGCATCTTCTGGGATGGAGAGGAGAGAGG GTGAACTGTGGGGGCGTCTGATGAGATGGAGAGGAGAGAGGGTGAACTGT GGGGGCGTCTTCTGGGATGGAGAGGAGACGGGGTGAACTATGGGGCGTCT GATGAGATGGAGAGGAGAGAGGGTAAACTGTGGGGGCGTCTGCTGGGATG GAGAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-659	c.144 others(19): Show c.1442+5327_1442+5985del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GINS1_chr20_25402673_25453563	25433516	CCATATCA others(652): Show CCATATCATTTTTAGGGAATAACAATAAGGAAAAAAAGTCTGTACATGTT CAGTACAGACACAACCATCCATTTGTTTAAAAAAATTTTTGATTTGCAGA TACGGAACCTACAGAGACAGAGGACCAACTATATTCTATAGCTGTTTTCC TTGTGGTTAGTGATAGCTAGTACATTTAATATCTTAAAATTATAACACTT TAATTTCAACTTACAGCAGCTTGACTTCAGTAACATACCAAAATTCTGAT CCCTCAAATCAAAAGCTCCATCCTTATTTCTATTGTTGATGTCACAAAAC TACATCTTTATATGTTGTGAGCCCCAAAACATAAACTAATAAATCTTTTA AATGCATTAGTTTCTTAAATTGTGTAGAAAACAAAATTTAGGGTTGCAAA GTTACAATAATACTAGCTTTTAGACTAATCAATGTTTTTTTAAATGTGTT AGTCACTGAAATCATGTTAAAAACAAAAAATAGGGGCTGGGGGTGGTGGC TCTTATGCCTGTAATCCTAGCACTTTGGGAGTCCGAGGTGGGTGGATTGC GTGAGCTCAGAAATTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATC TCTACTAAAAATAAAAAAAATTAACTGGTGTGGTGGCACGAGCTTGTAGT TTCAGCTACT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19072.hp2 NA18952.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0244 a0001c0001t0001g0248	2	360	0.0056	-659	c.448 others(17): Show c.448-8183_448-7525del	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MLPH_chr2_237482251_237560322	237544504	GGGGGGAC others(652): Show GGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACT TTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTG TCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGG GACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTG GGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAG TTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGA GTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGT GAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGG GTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTA ATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGAC AGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	286	0.0035	-659	c.153 others(19): Show c.1539+1851_1540-1438del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686683	GCCCCCAG others(652): Show GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG AGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCC CGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	362	0.0028	-659	c.981 others(16): Show c.981+670_981+1328del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RWDD4_chr4_183634635_183664185	183660888	ATTTTTAG others(652): Show ATTTTTAGTAGAGACGGGGTTTCACCCTATTGGCCAGGCTGGTTTTGAAC CGTTGACCTCGTGAATCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCGCTGTACCCAGCCTGGTCACCCCTTTTTAATTTTCATTC CTACATTACCCAGAACTAGACTGTTTCTTTCTCTGAACATGCAATCCTTT GCCCTCATAACTTAATCCTGTCCTAAAAATATTTAAACAATTCTAAAACA ATCTGTTGTAGACATTTCTGGCAAGCTTTGCAAATCATTTATTGAATACC TGTTGTTCTTTCAGTATGTAAACATGAGAAGACTAATAGTCTTTCCTAAA TTAACCTTTCAGTTGAAAATATTCCATGTTTTGGGGATTAGGTATTAGCC TAAGTGTGCCTCACTTTTCACAAAGATTGTGTTAGACTTCTCCATAATAT ACTGGTATACTGGTGTAGATTACCTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACTCGGCTA ATTTTTTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA18956.hp2 NA18974.hp2 others(2): Show HG01975.hp1 NA18956.hp2 NA18974.hp2 NA18984.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0222 a0001c0001t0001g0223 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0002g0225	5	480	0.0104	-659	c.-25 others(11): Show c.-2595_-1937del	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1704		chr4	TogoVar
TRAPPC11_chr4_183654293_183718589	183660888	ATTTTTAG others(652): Show ATTTTTAGTAGAGACGGGGTTTCACCCTATTGGCCAGGCTGGTTTTGAAC CGTTGACCTCGTGAATCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCGCTGTACCCAGCCTGGTCACCCCTTTTTAATTTTCATTC CTACATTACCCAGAACTAGACTGTTTCTTTCTCTGAACATGCAATCCTTT GCCCTCATAACTTAATCCTGTCCTAAAAATATTTAAACAATTCTAAAACA ATCTGTTGTAGACATTTCTGGCAAGCTTTGCAAATCATTTATTGAATACC TGTTGTTCTTTCAGTATGTAAACATGAGAAGACTAATAGTCTTTCCTAAA TTAACCTTTCAGTTGAAAATATTCCATGTTTTGGGGATTAGGTATTAGCC TAAGTGTGCCTCACTTTTCACAAAGATTGTGTTAGACTTCTCCATAATAT ACTGGTATACTGGTGTAGATTACCTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACTCGGCTA ATTTTTTGTG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18956.hp2 NA18974.hp2 others(3): Show HG01975.hp1 NA18956.hp2 NA18974.hp2 NA18984.hp2 NA18995.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0166 a0001c0003t0001g0167 others(2): Show a0001c0003t0001g0005 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169	6	420	0.0143	-659	c.-22 others(17): Show c.-22+1467_-22+2125del	TRAPPC11	ENSG00000168538.16	transcript	ENST00000334690.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393232	GGGCAGGT others(652): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0271 a0001c0001t0008g0271	1	346	0.0029	-659	c.181 others(21): Show c.1811-13588_1811-12930del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83022312	GAGCTTAG others(651): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAG CTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTT AGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACT GTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCC GGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCA CCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCT GCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCA CCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCA GCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCG TGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGA ACTCACGTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0018 a0001c0006t0011g0018	1	266	0.0038	-658	c.298 others(17): Show c.298-8451_298-7794del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022359	TAGCTTAG others(651): Show TAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAG CTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACATTAGCTT AGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACT GTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCC GGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCA CCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCT GCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCA CCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCA GCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCG TGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGA ACTCACATG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	266	0.0038	-658	c.298 others(17): Show c.298-8498_298-7841del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022425	CCCCACCT others(651): Show CCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACG TTAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGA GCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAG CACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGCAC TGTCCCCGG	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0132 a0001c0002t0010g0132	1	266	0.0038	-658	c.298 others(17): Show c.298-8564_298-7907del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
INPP5A_chr10_132532787_132788480	132573376	TGAGGTTT others(651): Show TGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGTGAGGTTTTGTTG AGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTG TACGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGTG AGGTTTTGTTGATGTTGGGTTGTGTGTGCTGTGGGAGGTTTTGTTGAGAT GTTGGGGTGTGTGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGCG TGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGTGAGGT TTTGTTGAGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTTGAGATGT TGGGGTGTGCGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTG CCGTGTGAGGTTTTGTTGATGTTGAGGTGTGTGTGCCGTGTGAGGTTTTG TTGAGATGTTGGGGTGTGTGTGCTGTGTGAGGTTTTGTTGAGATGTTGGG GTGTGTGTGCCGTGTGAGGTTTTGTTGATGTTGAGGTGTGTGTGCTGTGT GAGGTTTTGTTGATGTTGAGGTGTGTGTGCCGTGTGAGGTTTTGTTGAGA TGTTGGGGTGTACGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTAC GTGCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0038 a0001c0005t0018g0038	1	204	0.0049	-658	c.76- others(17): Show c.76-34502_76-33845del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LPP_chr3_188149157_188895671	188784536	CATATATA others(651): Show CATATATATATATTCCATCATATATATATTCCATCATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTTCCATCATATAT ATATTCCATCATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATATTCCATCATATATAT ATATTCCATCATATATATATATTCCATCATATATATATTCCATCATCATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATATTCCATCATATATATATATTCCATCATATATATATA TTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01358.hp1 HG01361.hp1 others(2): Show HG00438.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0005 a0001c0001t0061 a0001c0002t0050 others(2): Show a0001c0001t0005 a0001c0001t0061 a0001c0002t0050 a0001c0005t0036 a0001c0005t0040	a0001c0001t0005g0032 a0001c0001t0061g0023 a0001c0002t0050g0052 others(2): Show a0001c0001t0005g0032 a0001c0001t0061g0023 a0001c0002t0050g0052 a0001c0005t0036g0075 a0001c0005t0040g0030	5	76	0.0658	-658	c.141 others(21): Show c.1410+24265_1410+24922del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55208057	CCTGGACT others(651): Show CCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAG GGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTG GACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGAC CTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGG GAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCT GAGTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGTCTGAGGGAG GAGGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGGGCTGGGGGC CTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGG GGCTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG02647.hp2 HG03130.hp1	a0012 a0030 a0012 a0030	a0012c0083 a0030c0065 a0012c0083 a0030c0065	a0012c0083t0001 a0030c0065t0001 a0012c0083t0001 a0030c0065t0001	a0012c0083t0001g0309 a0030c0065t0001g0308 a0012c0083t0001g0309 a0030c0065t0001g0308	2	378	0.0053	-658	c.51+ others(13): Show c.51+668_52-859del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar

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Search Results (Total: 10000 hits)