Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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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
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(247): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG00323.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0065 a0002c0002t0002g0066	2	442	0.0045	254	c.27 others(265): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(247): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	254	c.27 others(265): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355909	A A	ATGTGTGT others(247): Show ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	254	c.28 others(265): Show c.2809_*2810insTGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACATATG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		749		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CACCCCTC others(247): Show CACCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCC CCTCCCCCCCTCCCCCCTCCCCTCCTCCCTCCCCCTCTCCCCTCCCCCTC CCCTCCTCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	256	0.0039	254	c.-45 others(275): Show c.-455+14559_-455+14560insACCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCTCCCC TCCCCCTCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCC TCCCTCCCCCTCTCCCCTCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCTTCCCCTCCTCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4			chr5	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(247): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAGAAAGAAAGAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG06807.hp2 others(1): Show HG02965.hp1 HG03130.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0147 a0001c0002t0002g0167 a0001c0002t0002g0012 a0001c0002t0002g0147 a0001c0002t0002g0167	4	258	0.0155	254	c.403 others(269): Show c.403-623_403-622insCTTTCTTTCTCTTTCTTTCTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(247): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAGAAAGAAAGAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	258	0.0039	254	c.403 others(269): Show c.403-623_403-622insCTTTCTTTCTCTTTCTTTCTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFD_chr19_854664_868641	861199	T T	TCTGCACC others(247): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCCA GCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCCTACAACCCCCACACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCC ACCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	287	0.0070	254	c.358 others(269): Show c.358-306_358-305insACACCCTCACCCCGGGTCTAGCCTCGACCT CTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTC CAGCCTCGAACTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACA CCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCC CCACCCCCTGCACCCTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCA TGGGGACCCCGCCCTACAACCCCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCN5_chrX_49917596_50104230	50057654	C C	CAGAGGAC others(247): Show CAGAGGACTCTCCTGGATAGATACTATCCAGAGGACTCTCCTGGATAGAT ACTATCCAGAGGACTCTCCTGGATAGATACTATCCAGAGGACTCTCCTGG ATAGATACTATCCAGAGGACTCTCCTGGATAGATACTATCCAGAGGACTC TCCTGGATAGATACTATCCAGAGGACTCTCCTGGATAGATACTATCCAGA GGACTCTCCTGGATAGATACTATCCAGAGGACTCTCCTGGATAGATACTA TCCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0003 a0001c0001t0010 a0001c0003t0003	a0001c0001t0010g0159 a0001c0003t0003g0164 a0001c0001t0010g0159 a0001c0003t0003g0164	2	175	0.0114	254	c.164 others(273): Show c.164-12223_164-12222insAGGACTCTCCTGGATAGATACTATCC AGAGGACTCTCCTGGATAGATACTATCCAGAGGACTCTCCTGGATAGATA CTATCCAGAGGACTCTCCTGGATAGATACTATCCAGAGGACTCTCCTGGA TAGATACTATCCAGAGGACTCTCCTGGATAGATACTATCCAGAGGACTCT CCTGGATAGATACTATCCAGAGGACTCTCCTGGATAGATACTATCCAGAG GACTCTCCTGGATAGATACTATCCAGAG	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(247): Show TCCTATGTGATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 NA18939.hp1 HG02976.hp1 HG03041.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0001g0237 a0001c0001t0002g0238 a0001c0001t0002g0239	3	368	0.0082	254	c.159 others(271): Show c.159+5245_159+5246insATTATTATTATTATTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(247): Show TCCTATGTGATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	368	0.0027	254	c.159 others(271): Show c.159+5245_159+5246insATTATTATTATTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL21A1_chr6_56051590_56252580	56097900	T T	TATATAAA others(247): Show TATATAAATATATATAAATATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATATATAAATATATATAAATATATATATAAATATAAA TATATATATAAATATATATATAAATATATATATATAAATATATATATAAA TATATACAAATATATATAAATATATATAAATATAAATATATACAAATATA TATAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0091 a0006c0011t0004g0091	1	264	0.0038	254	c.181 others(273): Show c.1812+3571_1812+3572insTTATATATATTTGTATATATTTATAT TTATATATATTTATATATATTTGTATATATTTATATATATATTTATATAT ATATATTTATATATATATTTATATATATATTTATATTTATATATATATTT ATATATATTTATATATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098182	T T	TATATATA others(247): Show TATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATATATAAATATATA TAAATATATATATTAATATATATATAAATATATATATATAAATATATATA AATATATATATTAATATATATAAATATATATATATATAAATATATATTAA TATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0004 a0008c0012t0004	a0008c0012t0004g0030 a0008c0012t0004g0030	1	264	0.0038	254	c.181 others(273): Show c.1812+3289_1812+3290insTTATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATATTAATATATATTTATATATAT ATATATTTATATATATTAATATATATATTTATATATATTTATATATATAT ATTTATATATATATTAATATATATATTTATATATATTTATATATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A3_chr2_227159624_227319792	227202860	T T	TGTGTATA others(247): Show TGTGTATATATGTGTATATATACATATATGTGTATATATACGTATATATA CATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACGTATATATACATATATGTGTATATATACATATATGTGTATATATGTG TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0183 a0008c0009t0001g0183	1	344	0.0029	254	c.88- others(271): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATATACATATATGTGTATATAT ACATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTGT ATATATACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202860	T T	TGTGTATA others(247): Show TGTGTATATATGTGTATATATACATATATGTGTATATATGTGTATATATA CATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACGTATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	344	0.0029	254	c.88- others(271): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATGTGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATATACATATATGTGTATATAT ACGTATATATACATATATGTGTATATATACATATATGTGTATATATGTGT ATATATACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CRIM1_chr2_36350778_36556135	36505307	A A	AAATGACA others(247): Show AAATGACATGTAACAAAACCAGTTTTACCAGAGGCTAATTGATACAAACA AGAGTTAAGTTCCTACCATATATTTCTGGTCACGAAAACATCACCAAACT TCTAAATAAAGACCTAAAACATTTCTAATAGTAACAATTAAAGTAAGCAT GAGTTATATATACATTTAAGAAAGGTTAACAAAAAACAAGTACAATGATG ATTCCCCATTTTTAATGAATCAGTGAGTGATAGTGGTTGTAGTGGTGCTG TGTTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp1 others(2): Show HG01106.hp1 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0020 a0001c0001t0047 a0001c0001t0049 others(1): Show a0001c0001t0020 a0001c0001t0047 a0001c0001t0049 a0003c0008t0097	a0001c0001t0020g0096 a0001c0001t0020g0100 a0001c0001t0047g0006 others(2): Show a0001c0001t0020g0096 a0001c0001t0020g0100 a0001c0001t0047g0006 a0001c0001t0049g0098 a0003c0008t0097g0239	5	324	0.0154	254	c.150 others(273): Show c.1502-4633_1502-4632insCAAACAAGAGTTAAGTTCCTACCATA TATTTCTGGTCACGAAAACATCACCAAACTTCTAAATAAAGACCTAAAAC ATTTCTAATAGTAACAATTAAAGTAAGCATGAGTTATATATACATTTAAG AAAGGTTAACAAAAAACAAGTACAATGATGATTCCCCATTTTTAATGAAT CAGTGAGTGATAGTGGTTGTAGTGGTGCTGTGTTGAATGACATGTAACAA AACCAGTTTTACCAGAGGCTAATTGATA	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97900907	G G	GGTAGTGA others(247): Show GGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCG TAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTA GTGATTGGAGCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCTGTAGC CCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGA TTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCTGTAGCCCCT TTTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19086.hp2 HG00609.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0140 a0001c0003t0001g0058 a0001c0003t0001g0140	2	204	0.0098	254	c.113 others(271): Show c.1133+595_1133+596insGGAAAAGGGGCTACAGGGTCCAATCACT ACCAGGAAAAGGGGCTACGGGGTCCAATCACTACCAGGAAAAGGGGCTAC GGGGTCCAATCACTACCAGGAAAAGGGGCTACAGGCTCCAATCACTACCA GGAAAAGGGGCTACAGGCTCCAATCACTACCAGGAAAAGGGGCTACGGGG TCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTACCAGGAA AAGGGGCTACGGGGTCCAATCACTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CTU2_chr16_88701503_88720396	88712921	C C	CCCCCTTC others(247): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02572.hp2 others(9): Show HG02055.hp1 HG02258.hp2 HG02572.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19240.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0053 a0005c0006t0001g0161 others(2): Show a0005c0006t0001g0006 a0005c0006t0001g0053 a0005c0006t0001g0161 a0005c0006t0001g0164 a0005c0006t0001g0165	12	418	0.0287	254	c.737 others(267): Show c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CWC27_chr5_64763930_65023750	64914642	G G	GGAACTCT others(247): Show GGAACTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20129.hp1 NA19030.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0002g0103 a0002c0004t0001g0010 a0002c0002t0002g0103 a0002c0004t0001g0010	2	260	0.0077	254	c.104 others(275): Show c.1042+29104_1042+29105insTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGAACTCTT	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX23_chr12_48824756_48857163	48842514	C C	CGCCCGGC others(247): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	348	0.0029	254	c.320 others(271): Show c.320+1172_320+1425dupAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(247): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	367	0.0027	254	c.-42 others(265): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(247): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAGGGGAGAGGAG GAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGGG GCGAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	88	0.0114	254	c.158 others(271): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCT TCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCC CTTCTTCTCCCCTCCCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78541095	T T	TGGGTGAG others(247): Show TGGGTGAGCGGGGTGGGTGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGG GGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGATG GGGGGGTGAGCGGGATGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTG GGGGGGTGAGCGGGGTGGGGGGATGAGCAGATGGGTGGGTGAGCGGGGTG GGGGGGTGAGCGGGGTGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGG TGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0103 a0004c0103	a0004c0103t0001 a0004c0103t0001	a0004c0103t0001g0111 a0004c0103t0001g0111	1	252	0.0040	254	c.253 others(273): Show c.2533-1216_2533-1215insCCCCACCCCGCTCACCCCCCCACCCC GCTCACCCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCACCCATC TGCTCATCCCCCCACCCCGCTCACCCCCCCACCTGCTCATCCCCCCACCC CGCTCACCCCCCCATCCCGCTCACCCCCCCATCCCGCTCACCCCCCCACC CCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCAC CCCGCTCACCCACCCACCCCGCTCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25106550	G G	GTACAGTA others(247): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATATATATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	336	0.0030	254	c.19 others(265): Show c.1997_*1998insTATATATATATATATATATATATATATGTATATG CATTTCTTTAATCCTAATAGTTACAAAGGGTGGGAGGCAGATTGTTTCCA AAACTATATATGTGTGTGTGTGTGCATGTTTAACCATACTTTATTAAACA CTTTAATCTCAGCACTTTGGGAGGCCAAGAAAGGGGATTCCTCCCAAGGA TCTCAGGACTCCAGGGATTGCTTGAGCCCTGGAGTTGGAGGCTGTAGTGA GCTATGGTTGCACTACTGTA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1738		chr12	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(247): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATATAATATATATATTATATATAATATATATATATAATATATA TATAATATATATATAATATATATATTATATATAATATATATATATAATAT ATATATAATATATATATAATATATATAATATATATATAATATATATATTT AAAAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	298	0.0034	254	c.554 others(271): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATATAATATATATATTATATATAATATATA TATATAATATATATATAATATATATATAATATATATATTATATATAATAT ATATATATAATATATATATAATATATATATAATATATATAATATATATAT AATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(247): Show ATATATATAGTATATATATAGTATATATATAGTATAATATAGTATATATA TAGTATATATATATAGTGTATATATAGTATATATATATAGTATATATATA GTATATATATATAGTGTATATATATAGTATATATATATAGTGTATATATA TAGTATATATATAGTATATATAGTATATATATAGTATATATATGTATATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	316	0.0032	254	c.355 others(273): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT AATATAGTATATATATAGTATATATATATAGTGTATATATAGTATATATA TATAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATAGTATATATAGTATATATATAGT ATATATATGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNLT2B_chr3_196286219_196323240	196296894	T T	TCAGCCTG others(247): Show TCAGCCTGGGAGACACAGCAGGACCCTGGCTCTTAAAAAAAAAACAATTC TGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCGGGGGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAA TTAGCCAGGCGTGGCGGCAGGCACCAGTAGTCCCAGCTACTCAGGAGGCT GGTGTGAACCTGGGAGGCGGAGCTTGCAGTGACCTGAGATAGCACCACTG CACTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	330	0.0030	254	c.318 others(270): Show c.318-1079_318-826dupGAGTGCAGTGGTGCTATCTCAGGTCACTG CAAGCTCCGCCTCCCAGGTTCACACCAGCCTCCTGAGTAGCTGGGACTAC TGGTGCCTGCCGCCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCCCCCGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCAGAATTGTTTTTTTTTTAAGAGCCA GGGTCCTGCTGTGTCTCCCAGGCTG	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	3/4			chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCT others(247): Show CCCCCCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0214 a0003c0004t0002g0214	1	356	0.0028	254	c.-24 others(271): Show c.-248+507_-248+508insCCTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(247): Show TATATATTATATATAATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATGTAATATATAATATATAATAT ATTATATATTATATATTATACATAATATATAATATATAATATATATATTA TATATATATTATGTATTATATATAATATATTATACATAATATATAATATA TATTACGTAATATATTACATATATTATATATAATATATATTACGTAATAT ATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0276 a0001c0001t0021g0276	1	312	0.0032	254	c.-38 others(265): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATAATACATAATATATATATAATATATATATTATATATTATATATTAT GTATAATATATAATATATAATATATTATATATTATATATTACATATATTA TATGTAATATATAACATATATTACATAATATATGTAATATATTATGTAAT ATATATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
ELANE_chr19_847303_861243	861199	T T	TCTGCACC others(247): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCCA GCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCCTACAACCCCCACACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCC ACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA19030.hp1 NA19043.hp2 HG02280.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0002g0066 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0002g0066	3	403	0.0074	254	c.50 others(265): Show c.5035_*5036insCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCT CCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGT CTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACC CTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCC TACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGC GCTCGGAGCCCCCCCACCCC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4957		chr19	TogoVar
ENTPD6_chr20_25190712_25233075	25217746	C C	CCCTCCTC others(247): Show CCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCA GACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGGTCCTTCTCCTTCA TCCTTTATCTATAGTATACGCACATTAACCCAGACCTCTCTCTCCTCCTC CTCCTCCCGCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAG TATACACACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCC TCTGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	380	0.0026	254	c.878 others(269): Show c.878+241_879-475dupACCTCCTCTGGTCCTTCTCCTTCATCCTTT ATCTATAGTATACGCACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTC CCGCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACA CACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGTC CTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGA CCTCTCTCTCCTCCTCCTCCTCCC	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD6_chr20_25190712_25233075	25217990	A A	ACCTCCTC others(247): Show ACCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCA CATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCCGCCTCCTCTGTCCT TCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGACC TCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGGTCCTTCTCCTTCATCCT TTATCTATAGTATACGCACATTAACCCAGACCTCTCTCTCCTCCTCCTCC TCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	380	0.0026	254	c.879 others(269): Show c.879-420_879-419insACCCAGACCTCTCTCTCCTCCTCCTCCTCC CACCTCCTCTGGTCCTTCTCCTTCATCCTTTATCTATAGTATACGCACAT TAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCGCCTCCTCTGTCCTCCT CCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGACCTCT CTCTCCTCCTCCTCCTCCCGCCTCCTCTGTCCTTCTCCTTCATCCTTTAA TGTGTCTACAGTATACGCACATTC	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
EXD3_chr9_137301896_137428162	137328222	A A	AAAAAACA others(247): Show AAAAAACAACTAATATATACCCACATGATGAGTAAAACAACTAATATACT CCCATATGATGAGTAAAACAACTAATATACTCCCATAAGATGAGTAAAAA CAACAAATATACACCAACATGATGAGTAAAAAAAACGAATATACACCCAC ATGATGAGTGAAAACAAAAAATATACACCCCCATGATGAGTAAAAACAAC TAATATACACCCATATGATGAGTAAAAACAATGAATATACAGACACATGG TGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0039 a0008c0013t0001g0039	1	82	0.0122	254	c.199 others(273): Show c.1999-4080_1999-4079insACTCACCATGTGTCTGTATATTCATT GTTTTTACTCATCATATGGGTGTATATTAGTTGTTTTTACTCATCATGGG GGTGTATATTTTTTGTTTTCACTCATCATGTGGGTGTATATTCGTTTTTT TTACTCATCATGTTGGTGTATATTTGTTGTTTTTACTCATCTTATGGGAG TATATTAGTTGTTTTACTCATCATATGGGAGTATATTAGTTGTTTTACTC ATCATGTGGGTATATATTAGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F7_chr13_113100791_113125685	113111838	C C	CAGGACAC others(247): Show CAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCTCA CACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACA CTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCACA TGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCA CACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACCT CAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0097 a0002c0010t0015g0097	1	400	0.0025	254	c.225 others(271): Show c.225+1002_225+1003insTCACAGGGCACACTTCACACTCACGGGT CACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACA CTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACA CCTCACATGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGA CACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAG ATCACCTCAAAGAGGACACCTCACAC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(247): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATACACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	372	0.0027	254	c.63+ others(269): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATACA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATATATACATATATATATACACATATATA TATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(247): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	254	c.63+ others(269): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATATATACATATATATATACACATATATA TATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FBN2_chr5_128252909_128543245	128539754	C C	CATATATA others(247): Show CATATATAACATATGATATATATATCATATATATCATATATCATATATCA TATATATCATATATATCATATATCATATATATCATATATATCATATATCA TATATATCATATATATCATATATCATATATCATATATATCATATATCATA TATCATATATATCATATATATCATATATATCATATATATCATATATATCA TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0023 a0001c0008t0006g0023	1	236	0.0042	254	c.-21 others(265): Show c.-2152_-2151insATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATATGATATATATGATATATATGATATATATG ATATATATGATATATATGATATATGATATATGATATATATGATATATGAT ATATGATATATATGATATATATGATATATGATATATATGATATATATGAT ATATGATATATATGATATATATGATATATGATATATGATATATATGATAT ATATATCATATGTTATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1510		chr5	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(247): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATGTGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTG TATATATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCC TGTAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp1 HG01884.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0131 a0001c0003t0001g0135	2	430	0.0047	254	c.-39 others(271): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATGTGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTGTATATATATATATATATAAAT AAAATTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(247): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAG GGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	2	370	0.0054	254	c.39 others(265): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(247): Show CTTCCCCCTCCCCGCCCTCCCAACAGCACCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCC CCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCC CCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG CGCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0004 a0006c0013t0001g0004	2	230	0.0087	254	c.109 others(269): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGTGC TGTTGGGAGGGCGGGGAGGGGGAA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46145763	C C	CCTCCCCG others(247): Show CCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCCAACAACTGCGCCCT CCCCTTCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCTTCCCCCCACCCC GCGCTCCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTTC CCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCCAACAGCGCCCTC CCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	230	0.0044	254	c.109 others(269): Show c.1098+54_1098+55insAGGGGGAGGGCGCTGTTGGGGGGGAGGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGCTGTTGGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGG GGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGGAGGG CGCTGTTGGGGGGAGGGCGGGGAG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(247): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGGA GGGGATGGGGGCGGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGGAG GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	364	0.0028	254	c.-20 others(263): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGAGGGGAGAAGACGGGCAGCGGGAGG GGCGGGGGGGGGAGGGGATGGGGGCGGGGGGGGAGGGGAGGGGGCGGCGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGGAGGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(247): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGG CGGGGGGGAGGGGATGGGCGGGGGGGAGGGGGAGGGGGGGCGGGGGGGAG GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	364	0.0028	254	c.-20 others(263): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGGAGGGG GGGCGGGGGGGAGGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(247): Show CCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCAC TGCCCCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCACCCC TCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCT GCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	390	0.0026	254	c.145 others(271): Show c.145+5165_145+5166insCGGGGCAGTGCGGAGCGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCG CAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGACTGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAS6_chr13_113815549_113869076	113824036	T T	TGGTCTGG others(247): Show TGGTCTGGGGTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGATCTGAGCT GTCAGGAGCACCGTGGCCTGGGGTCTGAGCTGTCAGGAGCACCGTGGTCT GGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCAGG AGCACCCGCGGTCTGGGGTCTGAGCTATCAGGAGCACCCGTGGTCTGAGT TCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGGAGCA CGCGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0126 a0001c0016t0001g0126	1	143	0.0070	254	c.147 others(271): Show c.1478-487_1478-486insGCGCGTGCTCCTGACAGCTCAGACCCCA GACCGCGCGTGCTCCTGACAGCTCAGAACTCAGACCACGGGTGCTCCTGA TAGCTCAGACCCCAGACCGCGGGTGCTCCTGACAGCTCAGACCCCAGACC GCGGGTGCTCCTGACAGCTCAGACCCCAGACCACGGTGCTCCTGACAGCT CAGACCCCAGGCCACGGTGCTCCTGACAGCTCAGATCCCAGACCGCAGGT GCTCCTGACAGCTCAGACCCCAGACC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113824036	T T	TGGTCTGG others(247): Show TGGTCTGGGGTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGATCTGAGCT GTCAGGAGCACCGTGGCCTGGGGTCTGAGCTGTCAGGAGCACCGTGGTCT GGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCAGG AGCACCCGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGAGT TCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGGAGCA CGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	143	0.0070	254	c.147 others(271): Show c.1478-487_1478-486insGCGCGTGCTCCTGACAGCTCAGACCCCA GACCGCGCGTGCTCCTGACAGCTCAGAACTCAGACCGCGGGTGCTCCTGA CAGCTCAGACCCCAGACCGCGGGTGCTCCTGACAGCTCAGACCCCAGACC GCGGGTGCTCCTGACAGCTCAGACCCCAGACCACGGTGCTCCTGACAGCT CAGACCCCAGGCCACGGTGCTCCTGACAGCTCAGATCCCAGACCGCAGGT GCTCCTGACAGCTCAGACCCCAGACC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113824036	T T	TGGTCTGG others(247): Show TGGTCTGGGGTCTGAGCTGTCAGGAGCACCTGCGGTCTGGGATCTGAGCT GTCAGGAGCACCGTGGCCTGGGGTCTGAGCTGTCAGGAGCACCGTGGTCT GGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCAGG AGCACCCGCGGTCTGGGGTCTGAGCTGTCAGGAGCACCCGTGGTCTGAGT TCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGGAGCA CGCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03579.hp2 HG01496.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0001 a0001c0002t0001 a0003c0009t0001	a0001c0002t0001g0140 a0003c0009t0001g0124 a0001c0002t0001g0140 a0003c0009t0001g0124	2	143	0.0140	254	c.147 others(271): Show c.1478-487_1478-486insGCGCGTGCTCCTGACAGCTCAGACCCCA GACCGCGCGTGCTCCTGACAGCTCAGAACTCAGACCACGGGTGCTCCTGA CAGCTCAGACCCCAGACCGCGGGTGCTCCTGACAGCTCAGACCCCAGACC GCGGGTGCTCCTGACAGCTCAGACCCCAGACCACGGTGCTCCTGACAGCT CAGACCCCAGGCCACGGTGCTCCTGACAGCTCAGATCCCAGACCGCAGGT GCTCCTGACAGCTCAGACCCCAGACC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113824064	C C	CCTGTGGT others(247): Show CCTGTGGTCTGGGATCTGAGCTGTCAGGAGCACCGTGGCCTGGGGTCTGA GCTGTCAGGAGCACCGTGGTCTGGGGTCTGAGCTGTCAGGAGCACCCGCG GTCTGGGGTCTGAGCTGTCAGGAGCACCCGCGGTCTGGGGTCTGAGCTAT CAGGAGCACCCGCGGTCTGAGTTCTGAGCTGTCAGGAGCATGCGCGGTCT GGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGG AGCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	143	0.0070	254	c.147 others(271): Show c.1478-515_1478-514insATGCTCCTGACAGCTCAGACCCCAGACC GCGCGTGCTCCTGACAGCTCAGACCCCAGACCGCGCATGCTCCTGACAGC TCAGAACTCAGACCGCGGGTGCTCCTGATAGCTCAGACCCCAGACCGCGG GTGCTCCTGACAGCTCAGACCCCAGACCGCGGGTGCTCCTGACAGCTCAG ACCCCAGACCACGGTGCTCCTGACAGCTCAGACCCCAGGCCACGGTGCTC CTGACAGCTCAGATCCCAGACCACAG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308221	C C	CACCACCA others(247): Show CACCACCATCACCACCATCACCACCATCACCATCACCACCACCACCATCA TCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACC AAATACCACCACCACCATCACCACCACCACCACCACCACCAAATACCACC ACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCACCAC CACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACCA CCACT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0040	1	422	0.0024	254	c.961 others(271): Show c.961+1014_961+1015insCCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCAAATACCACCACCACCATCACCACCACCAC CACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACC ACCATCACCATCACCACCACCACCACCACCATCACCATCACCATCATCAC CATCACCTCCACCACCACCACCACTA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308404	T T	TCATCACC others(247): Show TCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCATCACCACCACCACCACCACCATCACCACCAAATACCAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCA CCACTACCACCACCACCAGCACCACCACCATCACCATCATCACCATCACC ACTAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	422	0.0024	254	c.961 others(271): Show c.961+1198_961+1199insTCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCATCACCACCACCACCACCAC CATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACC ACCATCACCATCACCATCACCACTACCACCACCACCAGCACCACCACCAT CACCATCATCACCATCACCACTACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(247): Show GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAG GGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGG AGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0120 a0001c0001t0077g0120	1	188	0.0053	254	c.229 others(273): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar

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