Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC17A7_chr19_49424401_49446527	49445397	G G	GAAGAGCT others(293): Show GAAGAGCTGCACCTGTAGTCGCAGCTACTTGGGAGGCTGAGGTGCAACCA TCACTTGAACTCGGGAGGTTGCAGAGTGAGTCAGGATTGCACCACTGCAC TCCAGCGTGGGCCTAAGAGCCAGACTCTGTCAAAAAAAAAAAAAGAAAGA AAGAAAGAGAGAGAGAAAGGAAGGAAGGAAGGAAAGAAAAGAAAGAAAGA ATAAAGAAAGAAACTTCTGCAGATGTACTGGGAAGAGGATACAAAGTAGC AGGAACAGCAGAAACTAAGAGATGGGGGAAAATGGGTGTGGTCAGGACAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01433.hp2 others(4): Show HG01070.hp2 HG01255.hp1 HG01433.hp2 HG02055.hp1 HG02559.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0002g0025 a0001c0001t0002g0114	7	412	0.0170	300	c.-40 others(311): Show c.-4019_-4018insAGTGTCCTGACCACACCCATTTTCCCCCATCTCT TAGTTTCTGCTGTTCCTGCTACTTTGTATCCTCTTCCCAGTACATCTGCA GAAGTTTCTTTCTTTATTCTTTCTTTCTTTTCTTTCCTTCCTTCCTTCCT TTCTCTCTCTCTTTCTTTCTTTCTTTTTTTTTTTTTGACAGAGTCTGGCT CTTAGGCCCACGCTGGAGTGCAGTGGTGCAATCCTGACTCACTCTGCAAC CTCCCGAGTTCAAGTGATGGTTGCACCTCAGCCTCCCAAGTAGCTGCGAC TACAGGTGCAGCTCTT	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		3871		chr19	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(293): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATG GTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATG GATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAATGGAT GGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGG ATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGGGATG G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	295	0.0034	300	c.831 others(317): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GATGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(293): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	295	0.0034	300	c.831 others(317): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATG GTTTGATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATT GATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATG GAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGC ATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGG ATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596253	T T	TGGATGGA others(293): Show TGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGATGGA TGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGA TGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAATTGA TGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATGGA ATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCAT GGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGAT G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02970.hp1 others(2): Show HG02055.hp2 HG02809.hp1 HG02970.hp1 HG03579.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0001t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0075 a0001c0001t0010g0084 a0001c0003t0001g0029 others(1): Show a0001c0001t0001g0075 a0001c0001t0010g0084 a0001c0003t0001g0029 a0001c0003t0001g0074	5	357	0.0140	300	c.831 others(317): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATG GATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGA ATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGG AATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGG ATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGG ATGGATGGATGGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429025	A A	ATATATAT others(293): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATATAATATATATATTATATATATGTTATA TATATATATAATATATATATTATATATATGTTATATATATATATAATATA TATATTATATATATGTTATATATATATATAATATATATATTATATATATG T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0102 a0002c0003t0001g0102	1	291	0.0034	300	c.624 others(315): Show c.624+698_624+699insACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATATATAACATATATAT AATATATATATTATATATATATATAACATATATATAATATATATATTATA TATATATATAACATATATATAATATATATATTATATATATATATAACATA TATATAATATATATATTATATATATATATAACATATATATAATATATATA TTATATATATATATAACATATATATAATATATATATTATATATATATATA ACATATATATAATATATATA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(293): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATGTATATATA CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0176 a0001c0001t0012g0176	1	92	0.0109	300	c.173 others(319): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(293): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATAT G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0133 a0001c0001t0013g0133	1	155	0.0065	300	c.173 others(319): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(293): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02129.hp1 NA18946.hp2 HG01255.hp1 HG02129.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0065 a0001c0001t0009g0096 a0001c0001t0016g0058 a0001c0001t0009g0065 a0001c0001t0009g0096 a0001c0001t0016g0058	3	83	0.0361	300	c.173 others(319): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(293): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 NA19240.hp2 HG02145.hp1 HG02572.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0016g0174 a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0016g0174	3	72	0.0417	300	c.100 others(319): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCCAA others(293): Show CCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCC G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0326 a0002c0002t0001g0326	1	194	0.0052	300	c.113 others(317): Show c.113+1137_113+1138insCGGGGGGGTCAGCCCCCCACCTGGCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCA CCCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCA CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCC CGTCCGGGAGGGAGGTTGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCCAA others(293): Show CCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCC G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0339 a0002c0002t0001g0339	1	194	0.0052	300	c.113 others(317): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCC CGTCCGGGAGGGAGGTTGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC45A1_chr1_8313114_8349165	8344853	T T	TCCATCCA others(293): Show TCCATCCATCCATCCATCCATCCATCCATCCACATATCCACCCATCCACC CATCCAAATATCCACTTCTCCATATATACATCCATCCATCTATCCATCCA TCCATCCACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCTTA GATACATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTC TCCATATATCCATCCATCCGTCCACCCATCCATCCATCCATCCATCTATC CATCCATCCACCCATCTAAATATCCACTTCTTCATATATCCATCCATCCA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18971.hp2 HG02027.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0048 a0001c0001t0001g0106	2	386	0.0052	300	c.84 others(309): Show c.840_*841insCCATCCATCCATCCATCCATCCATCCATCCACATAT CCACCCATCCACCCATCCAAATATCCACTTCTCCATATATACATCCATCC ATCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCCAAATAT CCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCACCCATCT AAATATCCACTTCTCCATATATCCATCCATCCGTCCACCCATCCATCCAT CCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCTTCATAT ATCCATCCATCCAC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		689		chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238468	G G	GTCAGGTT others(293): Show GTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGAC ATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGAC A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0038 a0006c0008t0003g0038	1	389	0.0026	300	c.732 others(315): Show c.732+422_732+423insAGCTTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCT GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCT GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422732	G G	GCCCACCG others(293): Show GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGT A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02602.hp2 NA18986.hp1 HG02572.hp1 HG02602.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0001t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0107 a0001c0001t0010g0292 a0001c0002t0001g0082 a0001c0001t0001g0107 a0001c0001t0010g0292 a0001c0002t0001g0082	3	371	0.0081	300	c.654 others(315): Show c.654-719_654-718insTACCCAGCAGCGTGGGCAGCACTGGGCAGC GGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCA GCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1423084	A A	AGTACTGC others(293): Show AGTACTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACTGCTGCCCAG TGCTGCCCACGCTGCTGGGTGCCCACCACTGCCCACAGTACTGCCCACGC TGCTGGGTGCCCACCACTGCCCACAGTACTGCCCACGCTGCTGGGTGCCC ACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0002 a0001c0005t0008 a0001c0011t0015 a0001c0005t0002 a0001c0005t0008 a0001c0011t0015	a0001c0005t0002g0025 a0001c0005t0008g0027 a0001c0011t0015g0026 a0001c0005t0002g0025 a0001c0005t0008g0027 a0001c0011t0015g0026	3	318	0.0094	300	c.654 others(317): Show c.654-1071_654-1070insCGTGGGCAGCGGTGGGCACCCAGCAGCG TGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGTACTG TGGGCAGTGGTGGGCACCCAGCAGCGTGGGCAGTACTGTGGGCAGTGGTG GGCACCCAGCAGCGTGGGCAGCACTGGGCAGCAGTGGGCACCCAGCAGCG TGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTG GGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGTAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143448896	A A	ATAAAATA others(293): Show ATAAAATATAATTATATTATATAATTATATAAATATAATTATAATTATAT AATTATATAAAATATAATTATAATTATATAATTATATAAAATATAATTAT AATTATATAATTATATTATATATAATTATATTATATAATTATATTAGATA TAATTATATTATATAATTATATAAAATATAATTATATTATATAATTATAT AAAATATAATTATATTATATAATTATAAAAATATAATTATATTATATAAT TATAAAAATATAATTATATTATATAATTATATAAAATATAATTATATAAT T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0024	1	72	0.0139	300	c.146 others(321): Show c.1469+18140_1469+18141insAATTATATAATTATATTTTATATA ATTATATAATATAATTATATTTTTATAATTATATAATATAATTATATTTT TATAATTATATAATATAATTATATTTTATATAATTATATAATATAATTAT ATTTTATATAATTATATAATATAATTATATCTAATATAATTATATAATAT AATTATATATAATATAATTATATAATTATAATTATATTTTATATAATTAT ATAATTATAATTATATTTTATATAATTATATAATTATAATTATATTTATA TAATTATATAATATAATTATATTTTA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143448896	A A	ATAAAATA others(293): Show ATAAAATATAATTATATTATATAATTATATAAATATAATTATAATTATAT AATTATATAAAATATAATTATAATTATATAATTATATTATATATAATTAT ATTATATAATTATATTAGATATAATTATATTATATAATTATATAAAATAT AATTATATTATATAATTATATAAAATATAATTATATTATATAATTATATA AAATATAATTATATTATATAATTATATAAAATATAATTATATTATATAAT TATAAAAATATAATTATATTATATAATTATATAAAATATAATTATATAAT T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	72	0.0139	300	c.146 others(321): Show c.1469+18140_1469+18141insAATTATATAATTATATTTTATATA ATTATATAATATAATTATATTTTTATAATTATATAATATAATTATATTTT ATATAATTATATAATATAATTATATTTTATATAATTATATAATATAATTA TATTTTATATAATTATATAATATAATTATATTTTATATAATTATATAATA TAATTATATCTAATATAATTATATAATATAATTATATATAATATAATTAT ATAATTATAATTATATTTTATATAATTATATAATTATAATTATATTTATA TAATTATATAATATAATTATATTTTA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SNTG2_chr2_945849_1372613	1221835	C C	CTCTCTGT others(293): Show CTCTCTGTCTCTCTCTGTCTCTGCCTATCTTTGTCTCTCTCTGTCTCTCT CTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCT A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02293.hp2 HG01192.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0024 a0001c0002t0001g0025	2	154	0.0130	300	c.719 others(319): Show c.719+12616_719+12617insCTCTGTCTCTGCCTATCTTTGTCTCT CTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGT CTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCT GTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTGTGTCTCTCT CTGTCTCTGCCTATCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORBS2_chr4_185580523_185817194	185796539	G G	GAGGCTGG others(293): Show GAGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGT AGGGCTGGGCATGGCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGT GAGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGT AGGGCTGGGCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGT GAGGCTGGGCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGT GAGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGT A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0180 a0001c0001t0025g0180	1	310	0.0032	300	c.-23 others(321): Show c.-237+15124_-237+15125insTACTGTGACCAGGGAACAGCGTGG CCACAGAGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAACAGCGTGG CCACAGCGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAACAGCGTGG CCACAGCGCCCAGGCATGCCCAGCCCTACTGTGACCAGGGAACAGCGTGG CCACAGAGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAACAGCGTGG CCACAGCGCCCAGCCATGCCCAGCCCTACTGTGACCAGGGAACAGCGTGG CCACAGAGCCCAGGCATGCCCAGCCT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449178	T T	TCTTCCTC others(293): Show TCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0023 a0001c0003t0016g0023	1	133	0.0075	300	c.548 others(319): Show c.548+52845_548+52846insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCT	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(293): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02630.hp1 others(2): Show HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0012 a0001c0001 a0001c0005 a0003c0012	a0001c0001t0003 a0001c0001t0013 a0001c0005t0008 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0005t0008 a0003c0012t0034	a0001c0001t0003g0097 a0001c0001t0013g0011 a0001c0005t0008g0065 others(2): Show a0001c0001t0003g0097 a0001c0001t0013g0011 a0001c0005t0008g0065 a0001c0005t0008g0154 a0003c0012t0034g0010	5	70	0.0714	300	c.548 others(319): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724738	A A	AGTAGTGG others(293): Show AGTAGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG02040.hp2 others(1): Show HG01069.hp2 HG01243.hp1 HG02040.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0004 a0002c0004t0047 a0001c0001t0004 a0002c0004t0004 a0002c0004t0047	a0001c0001t0004g0048 a0002c0004t0004g0012 a0002c0004t0004g0095 others(1): Show a0001c0001t0004g0048 a0002c0004t0004g0012 a0002c0004t0004g0095 a0002c0004t0047g0134	4	82	0.0488	300	c.261 others(317): Show c.2612-395_2612-394insGTGGTGGTGATGGTGATGGTGGTGATGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT GGTAGTGGTGATGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724738	A A	AGTAGTGG others(293): Show AGTAGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0135 a0001c0003t0009g0135	1	79	0.0127	300	c.261 others(317): Show c.2612-395_2612-394insGTGGTGGTGATGGTGATGGTGGTGATGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT GGTAGTGGTGATGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724738	A A	AGTAGTGG others(293): Show AGTAGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01069.hp1 others(18): Show HG00099.hp1 HG00323.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp2 HG01258.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02148.hp1 HG02602.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18962.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0001c0047 a0002c0004 a0002c0050 a0011c0023	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(15): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0007 a0001c0002t0042 a0001c0002t0044 a0001c0002t0051 a0001c0003t0004 a0001c0003t0014 a0001c0017t0002 a0001c0047t0057 a0002c0004t0004 a0002c0004t0007 a0002c0004t0009 a0002c0004t0012 a0002c0050t0023 a0011c0023t0009	a0001c0001t0004g0098 a0001c0001t0007g0055 a0001c0001t0009g0142 others(18): Show a0001c0001t0004g0098 a0001c0001t0007g0055 a0001c0001t0009g0142 a0001c0002t0002g0069 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0042g0050 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0003t0004g0088 a0001c0003t0014g0140 a0001c0017t0002g0056 a0001c0047t0057g0051 a0002c0004t0004g0046 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0012g0035 a0002c0050t0023g0132 a0011c0023t0009g0122	21	99	0.2121	300	c.261 others(317): Show c.2612-395_2612-394insGTGGTGGTGATGGTGATGGTGGTGGTGA GGATGGTGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGA TAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTA GTTATGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT GGTAGTGGTGATGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(293): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03942.hp1 NA18906.hp1 others(1): Show HG00544.hp2 HG03942.hp1 NA18906.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0011 a0001c0001t0020 a0001c0002t0122 others(1): Show a0001c0001t0011 a0001c0001t0020 a0001c0002t0122 a0001c0005t0014	a0001c0001t0011g0233 a0001c0001t0020g0122 a0001c0002t0122g0278 others(1): Show a0001c0001t0011g0233 a0001c0001t0020g0122 a0001c0002t0122g0278 a0001c0005t0014g0211	4	114	0.0351	300	c.-11 others(321): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(293): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGAGGGGAGGAGGGGGAGGGGAGGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	6	0.1667	300	c.138 others(319): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CTCCCCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(293): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	301	0.0033	300	c.485 others(315): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
STK32A_chr5_147230026_147392855	147258153	T T	TAACCTTT others(293): Show TAACCTTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG02258.hp2 others(3): Show HG01167.hp1 HG01496.hp2 HG02258.hp2 HG02486.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0072 a0001c0001t0001g0208 a0001c0001t0001g0224 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0007g0073	6	239	0.0251	300	c.52+ others(317): Show c.52+18484_52+18485insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCAACCTTTTATAATTTTT	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
STX12_chr1_27768219_27829443	27792186	C C	CTATATAT others(293): Show CTATATATATGTATATACATATATATGTATCTATATATATGTATATACAT ATATATGTATCTATATATATGTATATACATATATATGTATCTATATATAT GTATATACATATATATGTATCTATATATATGTATATACATATATATGTAT CTATATATATGTATATACATATATATGTATCTATATATATGTATATACAT ATATATGTATCTATATATATGTATATACATATATATGTATCTATATATAT GTATATACATATATATGTATCTATATATATGTATATACATATATATGTAT C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	126	0.0079	300	c.189 others(317): Show c.189-1340_189-1339insATGTATATACATATATATGTATCTATAT ATATGTATATACATATATATGTATCTATATATATGTATATACATATATAT GTATCTATATATATGTATATACATATATATGTATCTATATATATGTATAT ACATATATATGTATCTATATATATGTATATACATATATATGTATCTATAT ATATGTATATACATATATATGTATCTATATATATGTATATACATATATAT GTATCTATATATATGTATATACATATATATGTATCTATATATATGTATAT ACATATATATGTATCTATATAT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCO_chr1_172528150_172616833	172571935	G G	GTCAGCCC others(293): Show GTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGAGGGGGTC AGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0121 a0001c0003t0005g0121	1	338	0.0030	300	c.104 others(319): Show c.1049+1205_1049+1206insTCAGCCCCCGCCAGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGT	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(293): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAAG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	273	0.0037	300	c.456 others(317): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAA CCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTCAGTTTTTGTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAF13_chr1_109059140_109081003	109077258	T T	TAAAAGTA others(293): Show TAAAAGTACAAAAATGGCCGGGCGCCGGTGGCTCACGCCTATAATCCCAG CACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCTGGTAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGC ACCCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG06807.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0128 a0001c0001t0004g0088 a0001c0001t0004g0128	2	412	0.0049	300	c.-13 others(311): Show c.-1312_-1311insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCACCCAGGCTAGGGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCC GCCTACCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCAC CTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGGCGCCCGG CCATTTTTGTACTTTT	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding		1256		chr1	TogoVar
TAFA5_chr22_48484553_48756932	48679073	C C	CCTGTCCA others(293): Show CCTGTCCATCCCTCTCCTGGTCCCTGTCCATCCCTCTCCTGTCTCCCCGT CCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTC CCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCGGT CTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTC CCCGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCCG TCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGTCTC T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	244	0.0041	300	c.263 others(319): Show c.263-28628_263-28627insTGGTCCCTGTCCATCCCTCTCCTGTC TCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCAT CCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCT CTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCAGCTCC CCAGCTCCCCGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGG CTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTC CCGTCTCTCTGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48679073	C C	CCTGTCCA others(293): Show CCTGTCCATCCCTCTCCTGGTCCCTGTCCATCCCTCTCCTGTCTCCCCGT CCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTC CCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCGGT CTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTC CCTGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCCG TCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGTCTC T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01433.hp1 others(6): Show HG00741.hp2 HG01192.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG02559.hp1 HG03704.hp2 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0001 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0065 a0001c0001t0001g0208 a0001c0001t0003g0002 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0208 a0001c0001t0003g0002 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0077 a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0022g0179	9	252	0.0357	300	c.263 others(319): Show c.263-28628_263-28627insTGGTCCCTGTCCATCCCTCTCCTGTC TCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCAT CCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCT CTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCAGCTCC CCAGCTCCCTGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGG CTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTC CCGTCTCTCTGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D32_chr6_121074494_121339480	121160497	C C	CAAGAAGG others(293): Show CAAGAAGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA ACTAAATTGAATATTGGATTTACATTTTATTGTATCTTAAAATGCACATA GCAAAACCCACTGATTTCAATTTAATTAACATAGAAACCAAGATATGCTT TGTAAATTTTACAAGTAAAGCTGAATCCAGAGAAAAAACAATTTTTATGA ACTTACTTTAAATGTCAGTTAGTAATTAAGAAAGAGCACCATAGAAAAGT CAAGTTACTACAATTTTCTATTAGGTATACTTTACAATCCTTTATCTTAC T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0019 a0003c0004t0003g0019	1	247	0.0040	300	c.268 others(317): Show c.2680-395_2680-394insAGTAAGATAAAGGATTGTAAAGTATACC TAATAGAAAATTGTAGTAACTTGACTTTTCTATGGTGCTCTTTCTTAATT ACTAACTGACATTTAAAGTAAGTTCATAAAAATTGTTTTTTCTCTGGATT CAGCTTTACTTGTAAAATTTACAAAGCATATCTTGGTTTCTATGTTAATT AAATTGAAATCAGTGGGTTTTGCTATGTGCATTTTAAGATACAATAAAAT GTAAATCCAATATTCAATTTAGTTTAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAACCTTCTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	23/31			chr6	TogoVar
TENM4_chr11_78647829_79446030	79139322	T T	TAAATATA others(293): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTCTATAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0016 a0011c0027t0016	a0011c0027t0016g0078 a0011c0027t0016g0078	1	61	0.0164	300	c.-66 others(317): Show c.-66+9387_-66+9388insCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139352	T T	TAAATATA others(293): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG02622.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0018 a0001c0012 a0002c0018	a0001c0012t0008 a0002c0018t0010 a0001c0012t0008 a0002c0018t0010	a0001c0012t0008g0012 a0002c0018t0010g0030 a0001c0012t0008g0012 a0002c0018t0010g0030	2	56	0.0357	300	c.-66 others(317): Show c.-66+9357_-66+9358insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139352	T T	TAAATATA others(293): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	55	0.0182	300	c.-66 others(317): Show c.-66+9357_-66+9358insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139352	T T	TAAATATA others(293): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04204.hp2 HG00639.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0002 a0001c0002t0003 a0001c0005t0002	a0001c0002t0003g0055 a0001c0005t0002g0041 a0001c0002t0003g0055 a0001c0005t0002g0041	2	56	0.0357	300	c.-66 others(317): Show c.-66+9357_-66+9358insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139352	T T	TAAATATA others(293): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	55	0.0182	300	c.-66 others(317): Show c.-66+9357_-66+9358insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139562	G G	GAAATATA others(293): Show GAAATATATAAAACATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATATAAATATATAAAATATATATTATATTTATATAAATATATA AAATATATATTATATTTATATAAATATATAAAATATATATTATATTTATA T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0031 a0005c0009t0031	a0005c0009t0031g0021 a0005c0009t0031g0021	1	54	0.0185	300	c.-66 others(317): Show c.-66+9147_-66+9148insATATAAATATAATATATATTTTATATAT TTATATAAATATAATATATATTTTATATATTTATATAAATATAATATATA TTTTATATATTTATATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(293): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACAT CAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCA TCCACAGTCACCACATCAGACCCCACAACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	374	0.0027	300	c.228 others(317): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(293): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02257.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0002 a0001c0001t0001g0061	2	281	0.0071	300	c.48 others(311): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191072	G G	GTCCGGGG others(293): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	263	0.0038	300	c.47 others(311): Show c.4768_*4769insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4515		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191105	C C	CGCGGTGG others(293): Show CGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTC CGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCG GCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAG CCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	192	0.0052	300	c.47 others(311): Show c.4735_*4736insCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCC CCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTC CACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4482		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191105	C C	CGCGGTGG others(293): Show CGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTC CGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCG GCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAG CCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	192	0.0052	300	c.47 others(311): Show c.4735_*4736insCCCCCAAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCC CCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTC CACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4482		chr1	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(293): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0022 a0001c0001t0016g0022	1	173	0.0058	300	c.226 others(317): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGTTACAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM120B_chr12_121707752_121787068	121747371	G G	GCTGGGGT others(293): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0131 a0001c0009t0018g0131	1	282	0.0035	300	c.189 others(315): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCTGGGGT others(293): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG00140.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0159 a0001c0001t0030g0162 a0001c0001t0030g0159 a0001c0001t0030g0162	2	180	0.0111	300	c.189 others(315): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM200A_chr6_130361017_130448067	130389444	G G	GAAAGAAG others(293): Show GAAAGAAGAGGTTATCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGG CAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0223 a0001c0004t0003g0223	1	311	0.0032	300	c.-17 others(317): Show c.-17+4222_-17+4223insCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCG GCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAGAGGTTAT	TMEM200A	ENSG00000164484.12	transcript	ENST00000296978.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

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