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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Select column to sort.

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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
CYP4F11_chr19_15907377_15939529	15933656	G G	GTGGAATG others(606): Show GTGGAATGCGTGAGGGGGGGAGGATGAGTGAGCGGGCAGAGGAATGAGTG AGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGA GGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGAATGAGTGA GCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAG GAATGAGTGAGTGGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGATGT GAGCGGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGACGTGAGCGGGG AGAGGAATGAGTGAGCGGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGA ATGAAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGAGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGCAGAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0062 a0002c0001t0062	a0002c0001t0062g0044 a0002c0001t0062g0044	1	386	0.0026	613	c.198 others(628): Show c.198+554_198+555insTTCCTCTGCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCTCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTCCCCGCTCACTTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCCCCGCTCACTCATTCC TCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACT CACTCATTCCTCTGCCCCGCTCACTCATTCCTCTCCCCGCTCACGTCATT CCTCTGCCCACTCACTCATTCCTCTGCCCCGCTCACATCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCCACTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCATTCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCC CGCTCACTCATCCTCCCCCCCTCACGCATTCCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(606): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGG GGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAG GGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACA GAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	216	0.0046	613	c.923 others(632): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTT CCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTC CCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCC TCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(606): Show CCACCCGCACCCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCC CACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACC CCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCT CACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACC CCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCG CACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACC CCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCT CACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCA CCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACC CCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	613	c.39 others(624): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTG GGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(606): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGGGAGGGGGGAGGAGGAGGGGGGAGGAGGGGGGGGAGGAGGGGGGAGGA GGAGGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGG GAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGGGAGGGG GAGGGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0053 a0053	a0053c0046 a0053c0046	a0053c0046t0001 a0053c0046t0001	a0053c0046t0001g0102 a0053c0046t0001g0102	1	252	0.0040	613	c.118 others(632): Show c.11806-562_11806-561insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTC CTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCC CTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCC CTCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(606): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCTC CATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCA CTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCA TTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01071.hp1 others(11): Show HG00558.hp2 HG00673.hp1 HG01071.hp1 HG01071.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02922.hp2 HG02965.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0024 a0002c0002 a0002c0019 a0002c0022	a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 others(11): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0005 a0001c0007t0019 a0001c0010t0010 a0001c0016t0013 a0001c0024t0028 a0002c0002t0002 a0002c0019t0001 a0002c0022t0023	a0001c0001t0001g0019 a0001c0001t0016g0005 a0001c0003t0007g0024 others(11): Show a0001c0001t0001g0019 a0001c0001t0016g0005 a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0016t0013g0014 a0001c0024t0028g0003 a0002c0002t0002g0020 a0002c0019t0001g0021 a0002c0022t0023g0027	14	38	0.3684	613	c.113 others(632): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCA CCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCA TCACCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACC ACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAG CACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCAC CTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(606): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACCACCTC CATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCA CTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCA TTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02486.hp1 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0004 a0002c0009t0004 a0002c0004t0004 a0002c0009t0004	a0002c0004t0004g0008 a0002c0009t0004g0004 a0002c0004t0004g0008 a0002c0009t0004g0004	2	38	0.0526	613	c.113 others(632): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCA CCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCA TCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACC ACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAG CACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCAC CTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(606): Show ATATAATTATATATAATATATAATATATTATATATTATATATATTATATA AAATATAATATATTATATATAATTATATATTATATATTATATATAATATA TAATTATATGTTATATATTATATATATTATATATTATATATATATTATAT ATATAATATATATTATATATTAAATTATATATAATATATATTATATATAT AATTTATATATATAAAATATATTATATATTATATAAATATATATATTTTA TATATATAAAATATATATTTTATAATATATAATATAGAAATGTATATTAT ATAATATATAATTATATATAATTATATATTATATAATATATATTTCTATA TTATATATTTATAATGTATAATATATAAATATATTATAAATATATATTAT ATACTATATAATGCATTATAAATATATTATATTTATATATTATAAATATA TTACATATTTATATATTATATATATAATATATATATTATATATTATAAAT ATATTTTATAAAATATAATATATATATTATATATTATATATTATAAATAT ATTTTATAAAATATAATATATATATTATATATTATATTTTATAAAATATA ATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	220	0.0046	613	c.551 others(632): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATAATATATATATTATATTTTATAAAATATATTTATAATATA TAATATATATATTATATATATAATATATAAATATGTAATATATTTATAAT ATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATT TATAATATATTTATATATTATACATTATAAATATATAATATAGAAATATA TATTATATAATATATAATTATATATAATTATATATTATATAATATACATT TCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATAT ATTTATATAATATATAATATATTTTATATATATAAATTATATATATAATA TATATTATATATAATTTAATATATAATATATATTATATATATAATATATA TATAATATATAATATATATAATATATAACATATAATTATATATTATATAT AATATATAATATATAATTATATATAATATATTATATTTTATATAATATAT ATAATATATAATATATTATATATTATATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(606): Show GGAGGTGAGGGGCAGGGGAGGGGAGATGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGG TGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATGAGAGGC AGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGGGAGGTG AGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTGAGATGAGGGGCAG GGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGA GGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGA GGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGG ACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGA GGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAAGCTGAGGCGAGGG GCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGA GGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	248	0.0040	613	c.62- others(630): Show c.62-26570_62-26569insGCAGGGGAGGGGAGATGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGG GGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGG AGATGAGAGGCAGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTGAG ATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGA TGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGG GCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGATGA GGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCAGG TGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGA GGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAAGC TGAGGCGAGGGGCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGGGC AGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(606): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGTGAGGGGC AGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGG TGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTG AGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGGGAGGTGAGGTG AGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAG ATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGA GGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGAT GAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGA GATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAGACGTGGG GCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGA GGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAGGGTCAGG GAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGA GGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0235 a0001c0001t0008g0234 a0001c0001t0006g0235 a0001c0001t0008g0234	2	248	0.0081	613	c.62- others(630): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAG GGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATG AGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGG GAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAG GGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGG AGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGG GGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGC AAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGG TGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGC AGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGG CAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGC AGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNS_chr16_88808734_88861947	88831223	C C	CGAGCACG others(606): Show CGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCCGAGCACGGGG TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGG AGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	404	0.0025	613	c.100 others(630): Show c.1002+774_1002+775insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACC GCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCAC GCTCCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCG GCCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(606): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGG AGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	204	0.0049	613	c.978 others(630): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(606): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0363 a0008c0011t0005g0363	1	375	0.0027	613	c.-22 others(624): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAAT CTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(606): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCTCGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0068 a0002c0016t0001g0068	1	294	0.0034	613	c.153 others(632): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGTGACACCACGCACACCCGTCCGAGACACCACGCACAC CCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACCACGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(606): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAG GGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGG CGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGT GAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGG AGGTGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGA GGGAAGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19066.hp1 NA18945.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0195 a0001c0001t0003g0186 a0001c0001t0003g0195	2	272	0.0074	613	c.250 others(628): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(606): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCC TCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	140	0.0071	613	c.114 others(632): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(606): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAAT CTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTT TATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTA CTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATA TATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTT ATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATAT ATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0069 a0001c0011t0008g0069	1	330	0.0030	613	c.-5+ others(628): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATAT ATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATA TATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAAT ATGATTTTATATATATAAAAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(606): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAAT CTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTT TATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTA TTTTATATATATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0080 a0001c0001t0044g0080	1	330	0.0030	613	c.-5+ others(628): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATA TATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTT ATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAAT ATGATTTTATATATATAAAAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(606): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC TGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTA CCCACAACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	378	0.0027	613	c.148 others(632): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGGGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGG GACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTG GGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOC4L_chr12_132139457_132157468	132149061	T T	TAATCCCC others(606): Show TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0275 a0007c0011t0001g0275	1	294	0.0034	613	c.901 others(628): Show c.901+193_901+194insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(606): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTAAACTACATAGTTTTAAACTATATAAACTATAT AGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACT ATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAA AACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGT TTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	244	0.0041	613	c.342 others(632): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTT AAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATA TAGTTTAAAACTATGTAGTTTAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(606): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACT ACGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAA AACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGT TTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0240 a0001c0006t0001g0240	1	244	0.0041	613	c.342 others(632): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAA ACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAA CTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(606): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATTATATATAAAGTATATATATAATATATATTATATA TAAAGTATATATATAATATATATTATATATATATAAAATATATAATATAT ATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	308	0.0033	613	c.730 others(630): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATAATATATATACTTTATATATATAATATATATTATATATATTAT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(606): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTGTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCC CCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0224 a0001c0001t0028g0224	1	326	0.0031	613	c.433 others(630): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGTGGGAGGGGAGGGGACAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841635	T T	TCCCCCCG others(606): Show TCCCCCCGACCACGGCGCATCTCACACGGGCAAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACGGCGCATCTCACACCCACAGGCAGGCCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGC CGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACAGGCAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	242	0.0041	613	c.361 others(632): Show c.361-15558_361-15557insCCTGCCTGTGGGTGTGAGATGCGCCG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGG GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCG CCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGG GGGGCCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTG CTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTG AGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGA CCTGCTTGCCCGTGTGAGATGCGCCGTGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(606): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCC AGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	155	0.0065	613	c.155 others(632): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCGG GAGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGG CGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PCBP3_chr21_45638725_45947450	45746956	T T	TTGTGTCA others(606): Show TTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGT CAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAG CATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCAT CGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGC CGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTC AGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGT CCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCA CTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACG TAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAG CTCACACGGTGTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	292	0.0034	613	c.-16 others(632): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACG TAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAG CGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC ACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACA CGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGG TGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGT TGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGT GTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTC AGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGC ATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCC GTGTCAGTCCACTGACGTAGCTCACACGGTGTTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(606): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACT GAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGG GCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	282	0.0036	613	c.299 others(628): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCC CACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTC CCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(606): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGG AGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGAC CCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCG GGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGGAGGGCGGGAGGCG ACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGA CAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACCGGGAGGGCGGGAG GGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGA GGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTG AGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG02698.hp1 others(4): Show HG01099.hp1 HG01168.hp2 HG02698.hp1 HG02735.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0010 a0003c0003t0001g0007 a0003c0003t0001g0010	7	426	0.0164	613	c.64 others(622): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCT GAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGG GCTGAGTGAGGGGAGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAG GGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGG GCTGAGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGG AGGGCGGGAGGCGACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCC GCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACC GGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGG AGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGA GGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGG CGACCCGGGGCTGAGTGAGGGGAGGGT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
POU2F3_chr11_120235140_120324945	120267611	T T	TTGTTTAG others(606): Show TTGTTTAGGACGCAGCTGAGGAAAAGGGGTTAAAGCTCCAGGGAATTCTC TTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCAT GTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAAAATGGG TGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGCAGAAGAGGGAAAC ATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGAGGCC TCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCAGTGC ACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGTACTT TGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGATTGT GAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGGGGAA TTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTGAGAG TTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTCCTAC TATATATATATATATGTGTATATATATATATGTATATATATATATATATT ATATATGCATATTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0280 a0003c0003t0011g0280	1	320	0.0031	613	c.98- others(628): Show c.98-1589_98-1588insGCAGCTGAGGAAAAGGGGTTAAAGCTCCAG GGAATTCTCTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCT CTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAA AAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGCAGAA GAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGC AGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGG GAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAG TGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGG TAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACA TGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTA TTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTG AGCTCCTACTATATATATATATATGTGTATATATATATATGTATATATAT ATATATATTATATATGCATATTATGTTTAGGAC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(606): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCC CCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCT CCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTC TCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCA CTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCT CTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCC TCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCT CCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTC TCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02717.hp1 NA21309.hp1 HG00673.hp2 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0069 a0001c0001t0001 a0001c0001t0014 a0001c0001t0069	a0001c0001t0001g0055 a0001c0001t0014g0069 a0001c0001t0069g0115 a0001c0001t0001g0055 a0001c0001t0014g0069 a0001c0001t0069g0115	3	210	0.0143	613	c.439 others(632): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTC TCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCC TCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTC CCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCC CTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGT CCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720160	A A	AGGGAGGG others(606): Show AGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAG GGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAG AGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGG ATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGATGCACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGGATGC AGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18973.hp1 NA18998.hp2 NA18947.hp2 NA18973.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0094 a0001c0001t0002g0115 a0001c0001t0001g0093 a0001c0001t0002g0094 a0001c0001t0002g0115	3	322	0.0093	613	c.200 others(632): Show c.200+24095_200+24096insCTCCCTCTCTCTCTGCATCCCTCCCT CTCTCTGCATCCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCT CTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00738.hp1 others(8): Show HG00438.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01433.hp2 HG02559.hp1 HG02647.hp2 HG02738.hp1 HG03486.hp2 HG04204.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0248	11	366	0.0301	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCT GTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCC GCCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGA GACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGT GATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCA CCGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	366	0.0027	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	366	0.0027	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	366	0.0027	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGA TCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTAT AAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGA GCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTG TCTCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02055.hp2 others(12): Show HG01106.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0237 others(11): Show a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0237 a0002c0002t0001g0042 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272	15	366	0.0410	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(606): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0078 a0002c0002t0008g0078	1	330	0.0030	613	c.-50 others(624): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RBPMS_chr8_30379541_30577256	30388607	A A	ATAAGCTA others(606): Show ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTA TAGCTGTAAGCTAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTAT AGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAA CTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATA GCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAA CTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAA GCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAG CTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACT TATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGC TGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACT TATAGCTATAGCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp2 HG01361.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0289 a0001c0001t0005g0288 a0001c0001t0002g0289 a0001c0001t0005g0288	2	304	0.0066	613	c.66+ others(628): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAAC TTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAG CTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGC TATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTT ATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCT GTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTT ATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCT AACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTA TAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTAT AACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGT AAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H2_chr9_122839556_122910359	122867231	T T	TGGGGGGG others(606): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCTCCGTCCGGGAGGGAGGTTGGGGGGTCAGCACCCCGCCCG GCCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCTGTCGGGGATGTGAGGGGCGCCTCTGCCCGGCCGCCTATC GTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGA GAAGCGTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTG CCCGGCCACCCATTGTCTGAGATGTGGGGAGCGCCTTTGCCCCACCGCCC CGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCCGTCTGGGAG GTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGGGAGGAGACCCT CCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCA GCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGT CCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18971.hp2 NA18955.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0145 a0001c0002t0002g0138 a0001c0002t0002g0145	2	320	0.0063	613	c.132 others(632): Show c.1326-1575_1326-1574insCACCTCCCTCCCGGACGGGGTGGCTG CCGGGCGGAGACGCTCCTCACTTCTCAGATGGGCCGGCTGCCGGGCGGAG GGGCTCCTCACTTCTCAGACGGGGCGGTTGCCGGGCGGAGGGTCTCCTCC CTTCTCAGACGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGG GTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGTGGGGC AAAGGCGCTCCCCACATCTCAGACAATGGGTGGCCGGGCAGAGACGCTCC TCACTTCCTAGATGGGATGGCGGCCGGGCAGACGCTTCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACGTCCCAGACGATAGGCGGCCG GGCAGAGGCGCCCCTCACATCCCCGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCGGGCGGGGTGC TGACCCCCCAACCTCCCTCCCGGACGGAGCGGCTGGCTGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGG others(606): Show TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGAGTGGAGTGGGGTGAGTGTGGGAGGTGA GTGGGTGAGTGTGGGGGGGTGTAGTGGGGTGGGTGAGTGTGGGGTGGTGA GTGGGGGTGAGTGTGGGGGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGG GTGAATGTGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGGTGAT GGGGGTGAGTGGGGTGAGTTGTGGGTGGGGTGAGCGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGTGGTTCTGTGGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGAGTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGGTGAGTGGG GGGTGAGTGGGGTGAGTGGGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGG GTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGA GTGGGGTGGAGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0055 a0013c0012t0055	a0013c0012t0055g0225 a0013c0012t0055g0225	1	292	0.0034	613	c.261 others(630): Show c.261+1189_261+1190insGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGGAGTGGGGT GAGTGTGGGAGGTGAGTGGGTGAGTGTGGGGGGGTGTAGTGGGGTGGGTG AGTGTGGGGTGGTGAGTGGGGGTGAGTGTGGGGGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGGTGAGTGGGGTGAGTGTGGGGGG GTGAGTGGGGGTGATGGGGGTGAGTGGGGTGAGTTGTGGGTGGGGTGAGC GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTG AGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGTGG TTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGTGTGGGGGGTGAGTG GGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTG AGTGTGGGGGGGTGAGTGGGGTGGAGTGGGGGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	305094	G G	GGGGGACA others(606): Show GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACACGGCGAGAGGGGGACAGGGCGGGAGGGGCACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGG GCAAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCG GGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGG AGGGGGACACGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACACGGCGAGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGAGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGGGGACAGGGCGAG AGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGAACAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	133	0.0075	613	c.351 others(632): Show c.351+14325_351+14326insTCCCGCCCTGTTCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCGT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCTCGCCGTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTTGCCCTGTCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGC CCTGTGCCCCTCCCGCCCTGTCCCCCTCTCGCCGTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(606): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACCACACCACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGT CCGTCCATCCATCCACCCATCCACCCATCCACCCACCACCACACACCCAT CCATCCATCCATCCATCCATCCACCATCATCCATCATCCATCACCATCCA CTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATC CATCCATCCACCCATCAACCCATCCACCCACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCATCCATCCATCTA CCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCACCCACCCACCCACCCCATCCATCCATCA CCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0120 a0001c0004t0001g0120	1	378	0.0027	613	c.937 others(630): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACCACACCACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCACCACACACCCATCCATCC ATCCATCCATCCATCCACCATCATCCATCATCCATCACCATCCACTCATC CATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCA TCCACCCATCAACCCATCCACCCACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCATCCATCCATCTACCCATC CACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCACCCACCCACCCACCCACCCCATCCATCCATCACCCACC CACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(606): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	290	0.0035	613	c.166 others(630): Show c.1663-422_1663-421insTCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339771	T T	TTCTACCC others(606): Show TTCTACCCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCAT TCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCT ACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATAGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATCACTCCAGCCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCA TCACTCCAGCCCTCCCCCATTCTCCTCACTCTATCCCCCCACAAGCATCA CTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCC TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0075 a0001c0006t0075	a0001c0006t0075g0024 a0001c0006t0075g0024	1	280	0.0036	613	c.89- others(626): Show c.89-537_89-536insGTGAGGAGAGTAGGGGAGGGTTGGAGCTATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGG GGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGAT AGAGTGAGGAGAATGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGA GTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAGTGAGG AGAGTAGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGG GAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAG GGTTGGAGCAGTGCTTGTGGGGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(606): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATATTCCATATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	324	0.0031	613	c.115 others(630): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATATGGAATATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(606): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	324	0.0031	613	c.115 others(630): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0114 a0001c0001t0017g0078 a0001c0001t0006g0114 a0001c0001t0017g0078	2	150	0.0133	613	c.77- others(630): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0104 a0001c0001t0007g0005 a0001c0001t0005g0104 a0001c0001t0007g0005	2	158	0.0127	613	c.22+ others(630): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(606): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0009 a0002c0005t0010g0009	1	256	0.0039	613	c.165 others(630): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(606): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TATAATATATATATTATATATAATATATATAATATATATATTATATATAT TATATATATTATATATAATATAAATATATTATATATAATATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	346	0.0029	613	c.-70 others(630): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTTATATAATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATGT ATAATATATATAATATATTTATATTTATGTATAATATATATAATATATTT ATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar

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