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
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(223): Show TTCTTTTCTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18940.hp2 HG00423.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0129 a0001c0001t0001g0137	2	402	0.0050	230	c.12 others(241): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTAATGTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(223): Show TTCTTTTCTTTTTTTTTTTTAATGTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	230	c.12 others(241): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTAATGTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(223): Show TTCTTTTCTTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	402	0.0025	230	c.12 others(241): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTAATGTTTTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
AFP_chr4_73431221_73461174	73433399	T T	TCTGTTTC others(223): Show TCTGTTTCTCTGATTAGGCAGTAAGCTCAACAAGAGCTACATGGTGCCTG TCTCTTGTTGCTGATTATTCCCATCCAAAAACAGTGCCTGGAATGCAGAC TTAACATTTTATTGAATGAATAAATAAAACCCCATCTATCGAGTGCTACT TTGTGCAAGACCCGGTTCTGAGGCATTTATATTTATTGATTTATTTAATT CTCATTTAACCATGAAGGATTAGGCAGTAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	390	0.0026	230	c.-28 others(241): Show c.-2864_-2863insCTGTTTCTCTGATTAGGCAGTAAGCTCAACAAGA GCTACATGGTGCCTGTCTCTTGTTGCTGATTATTCCCATCCAAAAACAGT GCCTGGAATGCAGACTTAACATTTTATTGAATGAATAAATAAAACCCCAT CTATCGAGTGCTACTTTGTGCAAGACCCGGTTCTGAGGCATTTATATTTA TTGATTTATTTAATTCTCATTTAACCATGAAGGATTAGGCAGTAAG	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding		2821		chr4	TogoVar
AGRN_chr1_1015120_1061116	1029775	G G	GATCAGCG others(223): Show GATCAGCGTGTGTGTGTGTGCAGTGCATGGTGCTGTGTGAGATCAGCATG TGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGTGCAGC GCATGGTGCTGTGTGAGATCAGCATGTGTGTGTGTGTGTGCAGTGCATGG TGCTGTGAGATCAGCGTGTGTGTGTGTGCAGTGCATGGTGCTGTGTGAGA TCAGCATGTGTGTGTGTGCAGTGCATGGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG03471.hp1 HG02922.hp2 HG03225.hp2 HG03471.hp1	a0001 a0014 a0001 a0014	a0001c0007 a0001c0064 a0014c0058 a0001c0007 a0001c0064 a0014c0058	a0001c0007t0005 a0001c0064t0005 a0014c0058t0008 a0001c0007t0005 a0001c0064t0005 a0014c0058t0008	a0001c0007t0005g0180 a0001c0064t0005g0192 a0014c0058t0008g0195 a0001c0007t0005g0180 a0001c0064t0005g0192 a0014c0058t0008g0195	3	210	0.0143	230	c.464 others(247): Show c.464-5502_464-5501insATCAGCGTGTGTGTGTGTGCAGTGCATG GTGCTGTGTGAGATCAGCATGTGTGTGTGTGCAGTGCATGGTGCTGTGAG ATCAGCGTGTGTGTGTGCAGCGCATGGTGCTGTGTGAGATCAGCATGTGT GTGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGTGTGC AGTGCATGGTGCTGTGTGAGATCAGCATGTGTGTGTGTGCAGTGCATGGT GC	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35			chr1	TogoVar
AHRR_chr5_316714_443285	318210	T T	TCACCTCC others(223): Show TCACCTCCCCTCTCACCCTCCACCTCCCCCCTCCCCTCCACCTCCCCCCC ACCTGCACCTCCCCTCCCCCTGCACCTCCCGCCTCACTCACCTCACCTCC CCCCATCTTTACCTCCCCCCACCTCATCTGCCCCCACCCTGCACCTCCCC CATCCTTCACCTCCCCCCTCTCACTCACCCTCCACACCCCCCGCACCCTG CACCTCCCACCCTTACCCTGCACCTCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0211 a0002c0002t0019g0211	1	268	0.0037	230	c.-36 others(241): Show c.-3620_-3619insCACCTCCCCTCTCACCCTCCACCTCCCCCCTCCC CTCCACCTCCCCCCCACCTGCACCTCCCCTCCCCCTGCACCTCCCGCCTC ACTCACCTCACCTCCCCCCATCTTTACCTCCCCCCACCTCATCTGCCCCC ACCCTGCACCTCCCCCATCCTTCACCTCCCCCCTCTCACTCACCCTCCAC ACCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3503		chr5	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(223): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTT TCCTTTCCTTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCT TCCTTCCTTCCTTTCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	48	0.0208	230	c.252 others(251): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGAAGAAAGGAA GGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAG GAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAG GGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGG GAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(223): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0004 a0001c0006t0009g0004	1	48	0.0208	230	c.252 others(251): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGAA GAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAG AAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGG GAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(223): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCTTTCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	48	0.0208	230	c.252 others(251): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAG GAAGAAAGAAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGG GAAAGGGAAGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGG GAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(223): Show AATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TAATTGTATATATAATATATATTATATATAATTGTATATATAATATATAT TATATATAATTGTATATAATATATATTATATATAATTGTATATATAATAT ATATTATATATATAATTGTATATATAATATATATTATATATATAATTGTA TATATAATATATATTATATATATAATTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	384	0.0026	230	c.-12 others(241): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATAATTGTATATATAATATATATTATATATAATTGT ATATATAATATATATTATATATAATTGTATATAATATATATTATATATAA TTGTATATATAATATATATTATATATATAATTGTATATATAATATATATT ATATATATAATTGTATATATAATATATATTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(223): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATAATATATAT TATATATAATTGTATATAATATATATTATATATAATTGTATATATAATAT ATATTATATATATAATTGTATATATAATATATATTATATATATAATTGTA TATATAATATATATTATATATATAATTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG06807.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0194 a0001c0001t0001g0133 a0001c0001t0001g0194	2	384	0.0052	230	c.-12 others(241): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATAATATATATTATATATAATTGTATATAATATATATTATATATAA TTGTATATATAATATATATTATATATATAATTGTATATATAATATATATT ATATATATAATTGTATATATAATATATATTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310924	T T	TTGTATAT others(223): Show TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATATAATTGTATATATAA TATATATTATATATATAATTGTATATATAATATATATTATATATATAATT GTATATATAATATATATTATATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA19030.hp1 NA18943.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0234 a0001c0001t0001g0244	2	384	0.0052	230	c.-12 others(241): Show c.-1204_-1203insTGTATATATAATATATATTATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATATATTATATATA TAATTGTATATATAATATATATTATATATATAATTGTATATATAATATAT ATTATATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATAATATATA	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1071		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(223): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG03471.hp1 HG02258.hp2 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197	3	342	0.0088	230	c.62 others(241): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ASCC1_chr10_72091032_72221276	72198297	G G	GGAGGGAG others(223): Show GGAGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGG GGGGGACGGGGAGGGAAGGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGA GGGGAGGGGGAGGGGAGGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGG AGGGGACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGA GGGGTGAGGGGAGGGGAGGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	216	0.0046	230	c.311 others(247): Show c.311-1309_311-1308insTCCTCCCCTCCCCCTCCCCTCCCCTCAC CCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCC CCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCCTCCCCTCCCCCTC CCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCCTTCCCTCCCCGTCC CCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTCCC TC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198298	G G	GGGGAGGG others(223): Show GGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGG GGAGGGGAGGGGGATGGGAGGGGGATGGGAGGGGGATGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0023 a0004c0005t0005g0023	1	216	0.0046	230	c.311 others(247): Show c.311-1310_311-1309insTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCATCCCCCTCCCATCCCCCTCCCATCCCCCTCCCC TCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTC CC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(223): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGGGGGAGGG AGAGGGGGAGGGGAGAGGGAGGGGAGGGAGAGGGAGGGGGGGAGTGCGAG GGGAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19082.hp2 NA19072.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0304 a0001c0001t0004g0305	2	432	0.0046	230	c.124 others(247): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCCCCTCCCTCTCCCTCCCCTCCCTCTCCCCTCCCCC TCTCCCTCCCCCTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCC TCCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTC CCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCC TC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(223): Show ATATTATATATATAATCTATATTATATATAATATATATATATATAATATA TATATATAATATATATAATATAATATATAATCTATATTATATAATCTATA TTATATATAATATAGATTATATATATAATCTATATTATATAATCTATATT ATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTAT ATATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03471.hp1 HG03516.hp2 others(1): Show HG02109.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0013 a0001c0002t0006 a0001c0002t0013	a0001c0002t0006g0301 a0001c0002t0006g0302 a0001c0002t0006g0304 others(1): Show a0001c0002t0006g0301 a0001c0002t0006g0302 a0001c0002t0006g0304 a0001c0002t0013g0303	4	382	0.0105	230	c.37 others(241): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA TATATATATAATATATATATATAATATATATAATATAATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(223): Show ATATTATATATATAATCTATATTATATATAATATATATATATATATAATA TATATATAATATATATAATATAATATATAATCTATATTATATAATCTATA TTATATATAATATAGATTATATATATAATCTATATTATATAATCTATATT ATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTAT ATATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0295 a0001c0002t0006g0295	1	382	0.0026	230	c.37 others(241): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA TATATATATATAATATATATATAATATATATAATATAATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATG10_chr5_81967023_82261133	82140243	G G	GGGGTGTC others(223): Show GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	226	0.0044	230	c.217 others(249): Show c.217-24153_217-24152insTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(223): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCCACCCCCACCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0001 a0010c0037t0001	a0010c0037t0001g0076 a0010c0037t0001g0076	1	254	0.0039	230	c.39+ others(247): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCCACCTCCCC CC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(223): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG01515.hp1 others(1): Show HG00738.hp1 HG01243.hp2 HG01515.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021	a0001c0001t0012g0244 a0001c0001t0013g0236 a0001c0001t0013g0243 others(1): Show a0001c0001t0012g0244 a0001c0001t0013g0236 a0001c0001t0013g0243 a0001c0001t0021g0184	4	252	0.0159	230	c.251 others(249): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA TGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003599	T T	TTATATAT others(223): Show TTATATATGTATATATAATATATATGAATATGTTATATATGTATATATAA TATATATGAATATGTTATATATGAATGTGTTATATATGAATATATATAAT ATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTTATA TATGAATATATAATATATATGAATGTGTTATATATGAATATATATAATAT ATATGAATGTGTTATATATGAATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0011 a0002c0002t0026g0011	1	76	0.0132	230	c.522 others(251): Show c.522+104109_522+104110insTATATATAATATATATGAATATGT TATATATGTATATATAATATATATGAATATGTTATATATGAATGTGTTAT ATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAA TATATATGAATGTTATATATGAATATATAATATATATGAATGTGTTATAT ATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAATA TATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GALT1_chr2_167288001_167879045	167876099	A A	ATATATAT others(223): Show ATATATATATATACGTATATATATACGTATATATATACGTATATATATAT ACGTATATATATACGTATATATATATACGTATATATATACGTATATATAT ATATACGTATATATATACGTATATATATATACGTATATATATACGTATAT ATATATATACGTATATATATACGTATATATATATACGTATATATATACGT ATATATATACGTATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0057 a0001c0001t0031g0057	1	118	0.0085	230	c.60 others(241): Show c.6079_*6080insTATATATATATACGTATATATATACGTATATATA TACGTATATATATATACGTATATATATACGTATATATATATACGTATATA TATACGTATATATATATATACGTATATATATACGTATATATATATACGTA TATATATACGTATATATATATATACGTATATATATACGTATATATATATA CGTATATATATACGTATATATATACGTATATATATATATATACGTG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2055		chr2	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(223): Show GAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAG GGGGGAGGGGGAGGGAGGGGGAGGGAGGAGGGGGAGGGGGGAGGGGGAGG GGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGAGAGGGGGGAGGGGAGGG GGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGA TGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0130 a0001c0008t0002g0130	1	298	0.0034	230	c.51+ others(243): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCC CTCCCCCTCCCCCCTCCCCCTCCTCCCTCCCCCTCCCTCCCCCTCCCCCC TCCCCCTCCCTCCCCCTCCCCCCCTCTCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BOK_chr2_241553745_241579131	241570438	A A	ATGGGTGA others(223): Show ATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGG GTACAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTG TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GTGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCG AGGGTGCAGACGTACGGGAGGGAATGGCGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0190 a0001c0001t0022g0191 a0001c0001t0022g0190 a0001c0001t0022g0191	2	434	0.0046	230	c.513 others(245): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTG GATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGG GTGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGTGTCTGAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570766	T T	TGGGGGTG others(223): Show TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGG AGTGGCGGATGGGTGAGTGTCTGAGCGCCTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	434	0.0023	230	c.513 others(245): Show c.513+506_513+507insACAGACGTACGGGAGGGAGTGGCGGATGGG TGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACA GAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGA TGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570788	C C	CGAGGGTA others(223): Show CGAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGC GCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGG AGTGGTGGATGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGG GTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0279 a0001c0001t0005g0279	1	434	0.0023	230	c.513 others(245): Show c.513+506_513+507insACAGACGTACGGGAGGGAGTGGTGGATGGG TGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAG ACGTACGGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGTGCCCATGTGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGAT GGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGTGAGGGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(223): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0373 a0001c0008t0001g0373	1	398	0.0025	230	c.189 others(243): Show c.1894+8_1894+9insGGGGGGCAGTGCACCCTGCAGGTGAGGGGTGG GGGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACC CTGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGT GGGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGGCGGTGTAC CCTGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BRD4_chr19_15230519_15337539	15271909	T T	TACACACC others(223): Show TACACACCAGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACA CACCAGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACACACC AGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACACACCAGTG GCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACACACCAGTGGCTC TGGTGTGCACACACCAGTGGCTCTGGTGTGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0003 a0001c0004t0029g0003	1	208	0.0048	230	c.285 others(245): Show c.285+905_285+906insGCACACCAGAGCCACTGGTGTGTGCACACC AGAGCCACTGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAG CCACTGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAGCCAC TGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAGCCACTGGT GTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAGCCACTGGTGTGT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	2/19			chr19	TogoVar
BSG_chr19_567596_588493	580870	A A	AGGACTGG others(223): Show AGGACTGGGTGAGGGGCGTAGACTGGGGGTCCCGGACCCAGCCCTCCGGA CTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGG GTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGA GGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCAGGACTGGGTGAGGGG CGTAGACTGGGGGTCCCGGACCCAGCCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG01891.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0083 a0001c0002t0001g0088	2	306	0.0065	230	c.792 others(245): Show c.792+104_792+105insGTAGACTGGGGGTCCCGGACCCAGCCCTCC GGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGAC TGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGG TGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCAGGACTGGGTGAG GGGCGTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	580870	A A	AGGACTGG others(223): Show AGGACTGGGTGAGGGGCGTAGACTGGGGGTCCCGGACCCAGCCCTCCGGA CTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGG GTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGA GGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGGGG CGTAGACTGGGGGTCCCGGACCCAGCCCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	306	0.0033	230	c.792 others(245): Show c.792+104_792+105insGTAGACTGGGGGTCCCGGACCCAGCCCTCC GGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGAC TGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGG TGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAG GGGCGTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	580999	C C	CCAGCCCT others(223): Show CCAGCCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAG CCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCT CCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGG ACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTG GGTGAGGGGCCTAGACTGGGGGTCCCGGACT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0162 a0001c0001t0003g0048 a0001c0001t0003g0162	2	306	0.0065	230	c.793 others(245): Show c.793-262_793-261insCGGACTGGGTGAGGGGCCTAGACTGGGGGT CCCGGACCCAGCCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCG GACCCAGCCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACC CAGCCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACTCAGC CCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(223): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	330	0.0030	230	c.431 others(247): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(223): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0315 a0008c0023t0001g0315	1	326	0.0031	230	c.145 others(247): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCA GG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1128591	C C	CCACCGTC others(223): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	326	0.0031	230	c.-1- others(245): Show c.-1-1206_-1-1205insAGATGAGCCGAGATGGCGCCACTGCACTCC AGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCC CGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGG TGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGAC GGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(223): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0261	2	366	0.0055	230	c.645 others(247): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(223): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0232 a0001c0001t0001g0233	2	366	0.0055	230	c.645 others(247): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTATATGT GT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38736581	A A	AAGGGGCG others(223): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0020 a0003c0005t0004g0020	1	342	0.0029	230	c.136 others(245): Show c.1363-19_1363-18insCTCTCCCCTGCCCCGACGCCCCTCTCTCCC CTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGC CCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCG ACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGC CCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(223): Show CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	410	0.0024	230	c.-22 others(247): Show c.-22-2083_-22-2082insTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAA GAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0243 a0003c0005t0001g0243	1	364	0.0028	230	c.234 others(247): Show c.234+6905_234+6906insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0305 a0002c0003t0001g0305	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0031 a0001c0001t0014g0031	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAG GGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGA GAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0245 a0003c0005t0001g0245	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCC CTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0342 a0002c0003t0001g0342	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0261 a0002c0003t0003g0261	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0266 a0002c0004t0004g0266	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAGGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0027 a0001c0002t0013g0027	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGA GGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG AAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	364	0.0028	230	c.234 others(247): Show c.234+6868_234+6869insCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTT CTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCT CCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGG AGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG AAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG01433.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0155 a0001c0002t0001g0156	2	364	0.0055	230	c.234 others(247): Show c.234+6868_234+6869insCTTCTTCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761440	A A	AGAAGAAG others(223): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAG GGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0358 a0004c0008t0003g0358	1	364	0.0028	230	c.234 others(247): Show c.234+6867_234+6868insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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