Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
SERINC2_chr1_31408213_31439678	31431876	A A	ATAGGGTG others(245): Show ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGAT GGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	376	0.0027	252	c.101 others(271): Show c.1014-1091_1014-1090insTAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432030	C C	CAGGGTGG others(245): Show CAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTG GAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0331	1	376	0.0027	252	c.101 others(269): Show c.1014-930_1014-929insTTAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432084	T T	TAGGGTGG others(245): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0006 a0004c0009t0006	a0004c0009t0006g0206 a0004c0009t0006g0206	1	376	0.0027	252	c.101 others(269): Show c.1014-875_1014-874insTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432111	T T	TAGGGTGG others(245): Show TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0005 a0008c0024t0005	a0008c0024t0005g0020 a0008c0024t0005g0020	1	376	0.0027	252	c.101 others(269): Show c.1014-849_1014-848insATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26209975	G G	GAGGAAGG others(245): Show GAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGACAGGAAGGAAGGAAGGAA AGACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATA TGGGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAGGGAGGGAAGG AGGAGCAAAGATAAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGA AGGGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02965.hp1 others(3): Show HG02055.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0018 a0003c0004	a0001c0001t0001 a0001c0003t0004 a0001c0003t0022 others(3): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0022 a0001c0006t0001 a0002c0018t0014 a0003c0004t0026	a0001c0001t0001g0212 a0001c0003t0004g0210 a0001c0003t0022g0209 others(3): Show a0001c0001t0001g0212 a0001c0003t0004g0210 a0001c0003t0022g0209 a0001c0006t0001g0211 a0002c0018t0014g0125 a0003c0004t0026g0208	6	240	0.0250	252	c.94+ others(269): Show c.94+40223_94+40224insGAGGAAGGAAGGGAGGGAGACAGGAAGG AAGGAAGGAAAGACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAA GATGCATATATGGGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAG GGAGGGAAGGAGGAGCAAAGATAAATAGATGGATAGATGGTAGGAAGAAA AGAAAGAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGAAGGAAGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26209991	G G	GAGGAAGG others(245): Show GAGGAAGGAAGGGAGGGAGACAGGAAGGAAGGAAGGAAAGACGGAAAGAA GGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATATGGGTGTATGGG TGGCAGGAAGGAAGAGGGAGGGAAGGAGGGAGGGAAGGAGGAGCAAAGAT AAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAGGGAAGGAAGG AAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	240	0.0042	252	c.94+ others(269): Show c.94+40239_94+40240insGAGGGAGACAGGAAGGAAGGAAGGAAAG ACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATATG GGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAGGGAGGGAAGGAG GAGCAAAGATAAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAG GGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGCD_chr5_156322164_156772788	156549148	A A	ATTTTTTT others(245): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0139 a0001c0001t0043g0139	1	150	0.0067	252	c.295 others(271): Show c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156549148	A A	ATTTTTTT others(245): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0039 a0001c0001t0018g0039	1	150	0.0067	252	c.295 others(271): Show c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(245): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCT CACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCCGCCCCGCTCACCCCC GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	242	0.0041	252	c.45 others(263): Show c.4574_*4575insGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGG GTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGC GGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGGGTGAGCG GGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(245): Show GCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACCCCCCGGCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACACCCCGGCCCCGCTCACACCCGACCCGCT CACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC ACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCC GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	242	0.0041	252	c.45 others(263): Show c.4574_*4575insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCG GGGGGTGAGCGGGGCGGGTGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGGTGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGGTGTGAG CGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(245): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATTATATATAAATTATTATTTATATATAATATATAATATATAAATT ATTATTTATATATAATATATTATATATAAATTATTATTTATATATAATAT ATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0300 a0001c0002t0003g0300	1	366	0.0027	252	c.454 others(269): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATAATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATAATTTATATATAATATATTATATATAAAT AATTATATATTATATATTATATATAAATAATAATTTATATATTATATATT ATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(245): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG01346.hp2 others(2): Show HG01074.hp1 HG01261.hp2 HG01346.hp2 HG02132.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0003g0018 others(2): Show a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0003g0018 a0001c0001t0003g0095 a0001c0001t0004g0028	5	164	0.0305	252	c.203 others(269): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(245): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATACATGCATATATGTACATATGTACATATATACATATGTATACATGCAT ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0143 a0001c0001t0013g0143	1	182	0.0055	252	c.173 others(271): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATACATGCATATATGTACATATGTACATA TATACATATGTATACATGCATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923678	C C	CATATGTA others(245): Show CATATGTACACATATACATATGTATATATACATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATGTATATA TACATATATACATATGTATATATATACATATATGTACATATGTACATATA TACATATACATATATGTACATATACACATATACATATGTATATATACATA TATGTACACATGTACATATACATATGTATATATGTACATATGTACATATA TGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	182	0.0055	252	c.173 others(271): Show c.173+15783_173+15784insGTACACATATACATATGTATATATAC ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATGTATATATACATATATACATATGTATATATATACATAT ATGTACATATGTACATATATACATATACATATATGTACATATACACATAT ACATATGTATATATACATATATGTACACATGTACATATACATATGTATAT ATGTACATATGTACATATATGTATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(245): Show TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATAAATATATATATATATTTATATATATAT ATATATATTTATATATATATATAAATATATATATATATTTATATATATAT AAATATATATATATATTTATATATATATAAATATATATATATATTTATAT ATATATAAATATATATATATTTTTTTATATATATATATAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0009 a0001c0001t0055g0009	1	236	0.0042	252	c.180 others(273): Show c.1809-21730_1809-21729insTATATATATATATTTATATATATA TATAAAAAAATATATATATATTTATATATATATAAATATATATATATATT TATATATATATAAATATATATATATATTTATATATATATAAATATATATA TATATTTATATATATATATAAATATATATATATATATATAAATATATATA TATATTTATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200247	T T	TATATTTA others(245): Show TATATTTATATATATATAAATATATATATATTTATATATATATATAAATA TATATATATATATATATATATAAATATATATATAAATATATATATTTATA TATATATAAATATATATATATATTTATATATATATATAAATATATATTTA TATATATATATATAAATATATATATATATTTATATATATATATAAATATA TATATATTTATATATATATATATAAATATATATATATATTTATATATATA TAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0185 a0001c0001t0185g0185	1	236	0.0042	252	c.180 others(273): Show c.1809-21755_1809-21754insTTATATATATATAAATATATATAT ATATTTATATATATATATATAAATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATATAAATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATAAATATATATATTTATAT ATATATTTATATATATATATATATATATATATTTATATATATATATAAAT ATATATATATTTATATATATATAAATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A8_chr20_49807828_49897242	49834437	A A	ATATATAT others(245): Show ATATATATACACAGTATATATATATATATACACACTGTATATATAGTGTG TGTATATACATATACTGTGTGTATATATAGTGCATATAGTGCGTATATAC AGTGTGTGTATATACATAGTGTGTGTGTATATATACAGTATATATATATA TACACAGTATATATATATACAGTATATATATATACACAGTATATATATAT ACAGTATATATATATACACAGTATATATATATACAGTATATATATATACA CAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0330 a0003c0005t0023g0330	1	360	0.0028	252	c.290 others(269): Show c.290-5096_290-5095insCACAGTATATATATATATATACACACTG TATATATAGTGTGTGTATATACATATACTGTGTGTATATATAGTGCATAT AGTGCGTATATACAGTGTGTGTATATACATAGTGTGTGTGTATATATACA GTATATATATATATACACAGTATATATATATACAGTATATATATATACAC AGTATATATATATACAGTATATATATATACACAGTATATATATATACAGT ATATATATATACACAGTATATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(245): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTATATATTATATATATTATG TATAATATATATTATATATTATATATATTATGTATAATATATATTATATA TTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18984.hp1 HG02040.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0072 a0001c0001t0001 a0001c0001t0072	a0001c0001t0001g0195 a0001c0001t0072g0259 a0001c0001t0001g0195 a0001c0001t0072g0259	2	310	0.0065	252	c.784 others(267): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAATATATATTATACATAATATATATAATATATAATATATA TTATACATAATATATATAATATATAAAATATATATTATACATAATATATA ATATATATAATATATATTATACATAATATATATAATATATATAATATATA TTATACATAATATATATAATATATATATAATATATAATATATATTATACA TAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168592576	G G	GGGCATCT others(245): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGC CTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02976.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0014g0005	6	180	0.0333	252	c.638 others(269): Show c.638-6242_638-6241insGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592576	G G	GGGCATCT others(245): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	252	c.638 others(269): Show c.638-6242_638-6241insGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGA GCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594937	G G	GGGCATCT others(245): Show GGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACA AGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	180	0.0056	252	c.638 others(269): Show c.638-3881_638-3880insGGCATCTTTCTAGAGGATCGCGGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNTG2_chr2_945849_1372613	965126	T T	TGGTCCCC others(245): Show TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTG GACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	190	0.0053	252	c.72+ others(269): Show c.72+14058_72+14059insGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	965130	A A	ACCCCAAT others(245): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT GGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0117 a0006c0028t0001g0117	1	190	0.0053	252	c.72+ others(269): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449229	C C	CCCTCCCT others(245): Show CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0033 a0003c0013t0033	a0003c0013t0033g0041 a0003c0013t0033g0041	1	168	0.0060	252	c.548 others(271): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(245): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0026 a0001c0031t0026	a0001c0031t0026g0144 a0001c0031t0026g0144	1	168	0.0060	252	c.548 others(271): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(245): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0004 a0001c0002t0065g0004	1	168	0.0060	252	c.548 others(271): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(245): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0180 a0001c0002t0005g0180	1	212	0.0047	252	c.481 others(269): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(245): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATATATA AGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02895.hp2 HG01167.hp1 HG01169.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0109 a0001c0001t0001 a0001c0001t0023 a0001c0001t0109	a0001c0001t0001g0196 a0001c0001t0023g0026 a0001c0001t0109g0039 a0001c0001t0001g0196 a0001c0001t0023g0026 a0001c0001t0109g0039	3	212	0.0142	252	c.481 others(269): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA GCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(245): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGCTAT ATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATATATA AGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0145 a0001c0001t0101g0145	1	212	0.0047	252	c.481 others(269): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA GCTTATATATTATATAAATATAAATATAGCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(245): Show ATAATAATATATATATTATATATATATTATTATATATATTATATATAATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT AATATATAATATATATATTATATATATAATATATAGTATATATATTATAT ATATTATATAATATATATATTATATTATATTATATAATATATATATTATA TATAATATATATATTATATATATTATATAATATATATATTATATATAATA TAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	86	0.0116	252	c.107 others(273): Show c.1071-29012_1071-29011insTAATAATATATATATTATATATAT ATTATTATATATATTATATATAATAATATATATATTATATATATATTATA TATATAATATATATATTATATATATAATATATAATATATATATTATATAT ATAATATATAGTATATATATTATATATATTATATAATATATATATTATAT TATATTATATAATATATATATTATATATAATATATATATTATATATATTA TATAATATATATATTATATATAATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAST_chr2_32058556_32162637	32110761	A A	ATATAGTA others(245): Show ATATAGTATATATAGTATAGTATATATAGTATAGTATACATAGTATAGTA TATATAGTATAGTATACATAGTATAGTATATATAGTATAGTATACATAGT ATAGTATATATAGTATAGTATACATAGTATAGTATATATAGTATAGTATA CATAGTATAGTATATATAGTATAGTATACATAGTATACTATATATAGTAT AGTATACATAGTATACTATATATAGTATAGTATACATAGTATACTATATA TAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	342	0.0029	252	c.683 others(269): Show c.683-3868_683-3867insTATAGTATAGTATATATAGTATAGTATA CATAGTATAGTATATATAGTATAGTATACATAGTATAGTATATATAGTAT AGTATACATAGTATAGTATATATAGTATAGTATACATAGTATAGTATATA TAGTATAGTATACATAGTATAGTATATATAGTATAGTATACATAGTATAC TATATATAGTATAGTATACATAGTATACTATATATAGTATAGTATACATA GTATACTATATATAGTATAGTATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(245): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTT GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	422	0.0024	252	c.64 others(263): Show c.6452_*6453insGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43905631	C C	CGCCACTG others(245): Show CGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCACCACTGTTCCTCCCCCTCCTCCTGTT CCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTGTCAC TTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCCCCTC CTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTT CCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	274	0.0037	252	c.744 others(269): Show c.744+5961_744+5962insCCTGCTTCTCTTCCCACCACTGTTCCTC CCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTT CCCCTTCCTGTCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCAC TGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTC CTCCTGCTTCTCTTCCTGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTT CCCGCCACTGTTTCTCCCCCTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK32C_chr10_132202492_132312950	132284774	C C	CTGCCCAA others(245): Show CTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACACCTGCCCAA AGACCAGGCATGAACCCAGAACACATTCCCACATCTGCCCAAAGACCAGG CATGAACCCAGAACACATTCCCACGTCTGCCCAAAGACCAGGCATGAACC CAGAACACATTCCCACGTCTGCCCAAAGACCAGGCATGAACCCAGAACAT ATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCTCAC ACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02258.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02723.hp1 HG03139.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0003 a0001c0006t0002 a0001c0001t0001 a0001c0005t0003 a0001c0006t0002	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0005t0003g0001 a0001c0005t0003g0049 a0001c0005t0003g0294 a0001c0006t0002g0042	8	368	0.0217	252	c.262 others(271): Show c.262+22797_262+22798insCGTGTGAGAATGTGTTCTGGGTTCAT GCCTGGTCTTTGGGCAGATGTGGGAATATGTTCTGGGTTCATGCCTGGTC TTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCA GACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGG AATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGGTGTGGGAATGTGTT CTGGGTTCATGCCTGGTCTTTGGGCA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SUN1_chr7_827476_879934	866667	C C	CGGGCCTT others(245): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCC CACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCAC CATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCC TTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGT CTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTC CGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0315 a0003c0003t0001g0315	1	418	0.0024	252	c.198 others(269): Show c.1980+634_1980+635insCCGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTG TCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCT CCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGC CCCCACTGTCTCCCCACCATCTCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(245): Show TATATACATACATACACATATGTGTACATATGTGTATATATACATATATA CACATATATATGTATATATACACATATGTGAATATGTATATGTGTGTTAT ATATACACATATGTGTATATGTATATATACATATATACACATATGTGTAT ATATACATATATACATATACACATATGTGTATATATAACACATATATACA CATATGTGTATATATAACACATATATACATATACACATATGTGTATATAT AAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02145.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0069 a0001c0001t0012 a0001c0001t0069	a0001c0001t0012g0368 a0001c0001t0069g0363 a0001c0001t0012g0368 a0001c0001t0069g0363	2	376	0.0053	252	c.158 others(271): Show c.1582-2860_1582-2859insCATACATACACATATGTGTACATATG TGTATATATACATATATACACATATATATGTATATATACACATATGTGAA TATGTATATGTGTGTTATATATACACATATGTGTATATGTATATATACAT ATATACACATATGTGTATATATACATATATACATATACACATATGTGTAT ATATAACACATATATACACATATGTGTATATATAACACATATATACATAT ACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(245): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCTCCCCTCC CCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0175 a0001c0001t0036g0175	1	268	0.0037	252	c.186 others(269): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCC CTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF25_chr16_89868592_89916379	89907770	C C	CCCTCCTC others(245): Show CCCTCCTCCCAGCTCCCAGCTCCCACCTCCCAGTTTCCACCTCCCAGCTC CCACCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCC CAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCC ACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTG GCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTC CTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG02486.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0175	2	300	0.0067	252	c.179 others(269): Show c.1799+450_1799+451insTCCTCCCAGCTCCCAGCTCCCACCTCCC AGTTTCCACCTCCCAGCTCCCACCTCCCTCCTCCCAGCTCCCGGCTCCCA CCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAG TTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCC TCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCT CCAACCTCCCTCCTCCCTCCTTCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TECTA_chr11_121096243_121196490	121114637	C C	CCACCCAC others(245): Show CCACCCACCCATCCATCCACCTACCCACCCGCCCATCCACCCACCCATCC GTCCACCTACCCACCCACCCATCCATTCACCCATCCGTCCACCTACCCAC CCACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCC ATCCATTCACCCATCCGTCCACCTACCCACCCACCCATCCACCCATCCAT CCACCCATCTACCCACCCACCCACCCATCCATTCACCTACCCACCCACCC ATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 HG02896.hp1 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0320 a0003c0004t0002g0321 a0003c0004t0002g0320 a0003c0004t0002g0321	2	348	0.0058	252	c.790 others(267): Show c.790+948_790+949insGCCCATCCACCCACCCATCCGTCCACCTAC CCACCCACCCATCCATTCACCCATCCGTCCACCTACCCACCCACCCACCC ACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCATTCAC CCATCCGTCCACCTACCCACCCACCCATCCACCCATCCATCCACCCATCT ACCCACCCACCCACCCATCCATTCACCTACCCACCCACCCATTCACCCAC CCATCCATCCACCTACCCACCC	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1290134	C C	CGTGCCTC others(245): Show CGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGG ACG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	392	0.0026	252	c.157 others(271): Show c.1573+3178_1573+3179insCGTCCCCGGGTGTCTCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC GGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCC TGTCACGTTCAGGGTGAGTGAGGCAC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290134	C C	CGTGCCTC others(245): Show CGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCACCTCACTCACCCTGCACGTGACAGAGACACCCGGGG ACG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19054.hp1 NA18999.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0245 a0001c0001t0001g0246	2	392	0.0051	252	c.157 others(271): Show c.1573+3178_1573+3179insCGTCCCCGGGTGTCTCTGTCACGTGC AGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCAC GGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCC TGTCACGTTCAGGGTGAGTGAGGCAC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290134	C C	CGTGCCTC others(245): Show CGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGG ACG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(92): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0018 others(3): Show a0001c0001 a0001c0003 a0001c0018 a0001c0020 a0001c0024 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0005 a0001c0018t0001 a0001c0020t0001 a0001c0024t0001 a0003c0015t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0237 others(90): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0371 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0310 a0001c0001t0004g0307 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0210 a0001c0003t0001g0260 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0271 a0001c0003t0001g0280 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0306 a0001c0003t0001g0313 a0001c0003t0001g0315 a0001c0003t0001g0322 a0001c0003t0001g0325 a0001c0003t0001g0335 a0001c0003t0001g0344 a0001c0003t0005g0314 a0001c0018t0001g0286 a0001c0020t0001g0305 a0001c0024t0001g0384 a0003c0015t0001g0110	95	392	0.2424	252	c.157 others(271): Show c.1573+3178_1573+3179insCGTCCCCGGGTGTCTCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCAC GGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCC TGTCACGTTCAGGGTGAGTGAGGCAC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290134	C C	CGTGCCTC others(245): Show CGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGG ACG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19010.hp1 NA18995.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0257 a0001c0026t0001g0386 a0001c0001t0001g0257 a0001c0026t0001g0386	2	392	0.0051	252	c.157 others(271): Show c.1573+3178_1573+3179insCGTCCCCGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCAC GGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCC TGTCACGTTCAGGGTGAGTGAGGCAC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290134	C C	CGTGCCTC others(245): Show CGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGGCCGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGG ACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG02451.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0002g0258 a0001c0001t0001g0213 a0001c0001t0002g0258	2	392	0.0051	252	c.157 others(271): Show c.1573+3178_1573+3179insCGTCCCCGGGTGTCTCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCAC GGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCC TGTCACGTTCAGGGTGAGTGAGGCAC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290346	C C	CGCCTCAC others(245): Show CGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAACGTGAC AGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGTGACAGGGACAC CCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGC CGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp2 HG02004.hp1 others(2): Show HG01123.hp1 HG01981.hp2 HG02004.hp1 HG02293.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0253 a0001c0003t0001g0252	5	392	0.0128	252	c.157 others(271): Show c.1573+2966_1573+2967insACGGCCCCCGGGTGTCCCTGTCACGT GTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGC GCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACCGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTC TCTGTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291309	G G	GGCGCCTC others(245): Show GGCGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGAC ACCCGGGGACCGCGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGG ACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01928.hp1 HG01943.hp1 others(7): Show HG00099.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02698.hp1 HG02738.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 others(7): Show a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0004t0001g0049 a0001c0004t0001g0053 a0001c0004t0001g0054	10	392	0.0255	252	c.157 others(271): Show c.1573+2003_1573+2004insTGTCCCCGGGTGTCCCTGTCACGTTC AGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAG TGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291620	G G	GCACGTGA others(245): Show GCACGTGACAGAGAAACCCGGGGGCCACGCCTCACTCACCCTGCACGGGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACA CCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGG CCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGACCACGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACC CTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00621.hp2 others(6): Show HG00438.hp1 HG00609.hp2 HG00621.hp2 HG02074.hp1 NA18941.hp1 NA18948.hp1 NA18955.hp2 NA19000.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0023 a0001c0001 a0001c0006 a0001c0023	a0001c0001t0001 a0001c0006t0001 a0001c0023t0001 a0001c0001t0001 a0001c0006t0001 a0001c0023t0001	a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0006t0001g0212 others(6): Show a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0006t0001g0212 a0001c0006t0001g0214 a0001c0006t0001g0216 a0001c0006t0001g0217 a0001c0006t0001g0218 a0001c0006t0001g0219 a0001c0023t0001g0383	9	392	0.0230	252	c.157 others(271): Show c.1573+1692_1573+1693insTAGGGTGAGTGAGGCGCCATCCCCGG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGTGGTCCCCGGGTGTCCCT GTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGCAGGGTGA GTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCG TGGCCCCCGGGTTTCTCTGTCACGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THSD7B_chr2_136760545_137682718	137303660	G G	GTTTATAT others(245): Show GTTTATATATATATTTATATATATTTATATATATATTTATATATATATAT TTATATATATTTATATATATATTTATATATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0004 a0002c0030t0004	a0002c0030t0004g0050 a0002c0030t0004g0050	1	98	0.0102	252	c.250 others(273): Show c.2500+27645_2500+27646insATTTATATATATTTATATATATAT TTATATATATATATTTATATATATTTATATATATATTTATATATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIMM22_chr17_992129_1008671	993489	A A	ACCTCACA others(245): Show ACCTCACATAATCCACCCTCACATAATCCACCCTCACGTAATCCACCCTC ACGTAATCCACCTCACATAATCCACCCACCCTCACATAATCCACCTCACA TAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCA CCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCCTCAACTAATCCACCTCACATAATCCACCCTCACATAATC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	439	0.0023	252	c.-36 others(263): Show c.-3654_-3653insCCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCTCAC ATAATCCACCCTCACATAATCCACCCTCAACTAATCCACCTCACATAATC CACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3639		chr17	TogoVar
TIMM22_chr17_992129_1008671	993710	C C	CCCTCACA others(245): Show CCCTCACATAATCCACCTCACATAATCCACCCACACTCACATAATCCACC TCACATAATCCACCCTCACATAATCCACCCTCACGTAATCCACCTCACAT AATCCACCTCGCATAATCCACCCACCCTCACATAATCCACACTCACATAA TCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCT CACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATA ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(43): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01978.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG03491.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037	a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0004g0001 others(8): Show a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0009g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0037g0040	46	439	0.1048	252	c.-34 others(263): Show c.-3433_-3432insCCTCACATAATCCACCTCACATAATCCACCCACA CTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACG TAATCCACCTCACATAATCCACCTCGCATAATCCACCCACCCTCACATAA TCCACACTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCC TCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATA ATCCACCCTCACATAATT	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3418		chr17	TogoVar

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