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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(293): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03471.hp2 HG01071.hp2 HG03471.hp2	a0002 a0026 a0002 a0026	a0002c0024 a0026c0048 a0002c0024 a0026c0048	a0002c0024t0030 a0026c0048t0001 a0002c0024t0030 a0026c0048t0001	a0002c0024t0030g0018 a0026c0048t0001g0259 a0002c0024t0030g0018 a0026c0048t0001g0259	2	237	0.0084	300	c.523 others(319): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179278050	C C	CACCCCCC others(293): Show CACCCCCCAGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCC CCCGAGACCAAAGGCTGACCGCCCCCGAGACAAAAGGCTGACCACCCCCG AGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGAC CAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGC TGACCCCCCACCCGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCT G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG03209.hp1 HG02818.hp2 HG02965.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0067 a0002c0098 a0001c0001 a0001c0067 a0002c0098	a0001c0001t0001 a0001c0067t0004 a0002c0098t0004 a0001c0001t0001 a0001c0067t0004 a0002c0098t0004	a0001c0001t0001g0047 a0001c0067t0004g0048 a0002c0098t0004g0272 a0001c0001t0001g0047 a0001c0067t0004g0048 a0002c0098t0004g0272	3	149	0.0201	300	c.535 others(317): Show c.535-4987_535-4986insCAGCCTTTGGTCTCTGGGGGGTGTCAGC CTTTGGTCTCGGGTGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGTCAGCCTTTGGTCTCGGGGGTGGTCAGCCTTTTGTCTCGGG GGCGGTCAGCCTTTGGTCTCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGT CAGCCTTTGGTCTCTGGGGGGT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133129623	T T	TTCACACC others(293): Show TTCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG ATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0347 a0001c0001t0051g0347	1	291	0.0034	300	c.21 others(309): Show c.212_*213insTCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGA		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7				213	INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131046450	G G	GGTCAGTG others(293): Show GGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTG GTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGG TCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGG TCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGG TCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG01109.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0004 a0001c0003t0004 a0001c0007t0004	a0001c0003t0004g0207 a0001c0007t0004g0102 a0001c0003t0004g0207 a0001c0007t0004g0102	2	229	0.0087	300	c.147 others(321): Show c.1474-30336_1474-30335insTGTCAGTGTCCTCCGTGGTCAGTG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTG TCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTG TCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAG TGTCCTCCCTTGTCAGTGTCCTCCCT		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(293): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTG AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGG CCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGCC CGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCTG CTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCTT TCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCGACCCTGTTCC T	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0102 a0002c0036t0102	a0002c0036t0102g0070 a0002c0036t0102g0070	1	145	0.0069	300	c.520 others(309): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAG GCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAGGCCCAGAAAGGGGC TCAGGAACGGGCTC	p.Ala others(315): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAlaAr gGluGlnAlaGlnLysGlyAlaGlnGluArgAlaArgGluGlnAlaGlnL ysGlyAlaGlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967			chr13	TogoVar
AFDN_chr6_167821911_167977023	167905660	T T	TAAAAACA others(293): Show TAAAAACAAATGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02647.hp2 others(2): Show HG02257.hp1 HG02486.hp2 HG02647.hp2 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0016 a0001c0006t0001 a0001c0006t0016	a0001c0006t0001g0311 a0001c0006t0001g0313 a0001c0006t0001g0314 others(2): Show a0001c0006t0001g0311 a0001c0006t0001g0313 a0001c0006t0001g0314 a0001c0006t0001g0318 a0001c0006t0016g0319	5	315	0.0159	300	c.165 others(319): Show c.1651-1499_1651-1498insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACAAATGA		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	12/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15530071	G G	GATATTCT others(293): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATA TTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATA TTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATA GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	209	0.0048	300	c.409 others(319): Show c.409+14700_409+14701insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATA TATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(293): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATA TTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATA TTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATA GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG02818.hp2 others(6): Show HG01109.hp1 HG02630.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0008 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0008 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0203 a0001c0003t0008g0211 a0002c0002t0001g0021 others(6): Show a0001c0001t0001g0203 a0001c0003t0008g0211 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0004g0208 a0002c0002t0004g0209	9	176	0.0511	300	c.409 others(319): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATA TATGGAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AK8_chr9_132720578_132883284	132821775	G G	TTGTATGT others(293): Show TTGTATGTATATACAAATATATACGTATATGTGTATGTATATACAAATAT ATACGTATATGTGTATGTATATACAAATATATACGTATATGTGTATGTAT ATACAAATATATACGTATATGTGTATGTATATACAAATATATACGTATAT GTGTATGTATATACAAATATATACGTATATGTGTATGTATATACAAATAT ATACGTATATGTGTATGTATATACAAATATATACGTATATGTGTATGTAT ATACAAATATATACGTATATGTGTATGTATATACAAATATATACGTATAT G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	192	0.0052	300	c.889 others(317): Show c.889+1430_889+1431insATATACGTATATATTTGTATATACATAC ACATATACGTATATATTTGTATATACATACACATATACGTATATATTTGT ATATACATACACATATACGTATATATTTGTATATACATACACATATACGT ATATATTTGTATATACATACACATATACGTATATATTTGTATATACATAC ACATATACGTATATATTTGTATATACATACACATATACGTATATATTTGT ATATACATACACATATACGTATATATTTGTATATACATACACATATACGT ATATATTTGTATATACATACAA		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12						chr9	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(293): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	179	0.0056	300	c.723 others(317): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATA		ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9						chr18	TogoVar
ANO2_chr12_5557655_5950259	5660426	T T	TAGAACAC others(293): Show TAGAACACGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCC TGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG03471.hp2 HG02280.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0002 a0001c0001t0001 a0001c0001t0003 a0001c0005t0002	a0001c0001t0001g0008 a0001c0001t0003g0015 a0001c0005t0002g0148 a0001c0001t0001g0008 a0001c0001t0003g0015 a0001c0005t0002g0148	3	115	0.0261	300	c.154 others(321): Show c.1546-12626_1546-12625insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCAGGAGTGCTGTGGCGCGATCTCCG CTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGCGTGTTCT		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24						chr12	TogoVar
ANO2_chr12_5557655_5950259	5932184	A A	ACTAGTAA others(293): Show ACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAATAAGGAAAGAAGG TAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAG AAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGAC TAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTA GACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAGAA AGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTA G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0074 a0001c0024t0001g0074	1	141	0.0071	300	c.23- others(315): Show c.23-9381_23-9380insCTAGTCTACCTTCTTTCCTCACTCGTCTAC CTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTC TACCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTT ACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCT TCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTA TCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTGTTAC CAGTCTTCCTTCCTTACTAG		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24						chr12	TogoVar
ANO3_chr11_26327130_26668289	26529099	T T	TATATATA others(293): Show TATATATATTATATAATATTATATAATATATAATAATATATAATATATAA TTATATAATATATTATTATATATTATATATTATTATATATTATATAATAT ATTATTATATTATATATATATATATATATATATATATATATAATAATATA TAATATATTATAATATATATTATATAATATATATTATATATTATATATAT TATACATTATATAATATATATTATATATTATATATATTATATATTATATA TTATATATATTATATATTATATTATATATTATATATATTATATATTATAT A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0022 a0001c0002t0014g0023 a0001c0002t0014g0022 a0001c0002t0014g0023	2	181	0.0110	300	c.738 others(317): Show c.738-2095_738-2094insATAATATTATATAATATATAATAATATA TAATATATAATTATATAATATATTATTATATATTATATATTATTATATAT TATATAATATATTATTATATTATATATATATATATATATATATATATATA TAATAATATATAATATATTATAATATATATTATATAATATATATTATATA TTATATATATTATACATTATATAATATATATTATATATTATATATATTAT ATATTATATATTATATATATTATATATTATATTATATATTATATATATTA TATATTATATAATATATATTAT		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GAGCGGGG others(293): Show GAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGGCAGCGGGGGCGCTCAGGG GCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGGGCA GCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGC GCGCAGGGGCGGAGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCA GGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGG C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0057 a0001c0003t0014g0057	1	166	0.0060	300	c.217 others(315): Show c.2179-92_2179-91insAGCGGGGGGGCAGCGGGGGCGCTCAGGGGC GGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGC GCAGGGGCGGAGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGG GGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGG GGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGGCA GCGGGGGCGCGCAGGGGCGG		ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(293): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp1 HG01952.hp1 others(31): Show HG00673.hp2 HG01099.hp1 HG01952.hp1 HG02015.hp2 HG02071.hp2 HG02135.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18964.hp1 NA18973.hp2 NA18984.hp1 NA18997.hp2 NA18999.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0007 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011	a0001c0002t0001g0246 a0002c0001t0001g0015 a0002c0001t0001g0016 others(28): Show a0001c0002t0001g0246 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0019 a0002c0001t0001g0050 a0002c0001t0001g0054 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0089 a0002c0001t0001g0091 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0154 a0002c0001t0001g0159 a0002c0001t0001g0162 a0002c0001t0001g0172 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0300 a0002c0001t0007g0084 a0002c0001t0007g0088 a0002c0001t0008g0175 a0002c0001t0011g0090	34	240	0.1417	300	c.494 others(315): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAATTTG		ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6						chr1	TogoVar
ARHGAP32_chr11_128960060_129197325	129046353	T T	TAATAATG others(293): Show TAATAATGGCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0036 a0001c0015t0036	a0001c0015t0036g0197 a0001c0015t0036g0197	1	386	0.0026	300	c.964 others(317): Show c.964-5345_964-5344insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAACAGCCATTATT		ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	10/22						chr11	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(293): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	64	0.0156	300	c.648 others(315): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAAT		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(293): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	64	0.0156	300	c.648 others(315): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAAT		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(293): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGA GGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGG GAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGGGGGGAGGGAGGG G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	310	0.0032	300	c.479 others(317): Show c.479-3401_479-3400insCCCCTCCCTCCCCCCCCTCCCCCTCCCT CCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCC CTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCT CTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCC CTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCT CCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTC CCTCCCTCCCTCCCTCCCTCCC		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(293): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGA GGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGG GAGAGAGGGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGGGGGAGGGAGGG G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	310	0.0032	300	c.479 others(317): Show c.479-3401_479-3400insCCCCTCCCTCCCCCCCTCCCCCTCCCTC CCTCCCCCACCCTCCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCC CTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCT CTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCC CTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCT CCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTC CCTCCCTCCCTCCCTCCCTCCC		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(293): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGGAGAGAGGG AGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGG GGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGG G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	310	0.0032	300	c.479 others(317): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCC TCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCCTCCCTCTCTCCCT CTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCC CTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCT CCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTC CCTCCCTCCCTCCCTCCCTCCC		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7						chr6	TogoVar
ATP10A_chr15_25673712_25868327	25757872	C C	CCACCTGC others(293): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTA T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	233	0.0043	300	c.655 others(319): Show c.655-21732_655-21731insATAGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758197	A A	ACTCATTC others(293): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	277	0.0036	300	c.655 others(319): Show c.655-22057_655-22056insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(293): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	165	0.0061	300	c.654 others(319): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(293): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0020 a0020	a0020c0064 a0020c0064	a0020c0064t0001 a0020c0064t0001	a0020c0064t0001g0309 a0020c0064t0001g0309	1	256	0.0039	300	c.-38 others(317): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAGTTAGATTA		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(293): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCC CACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCCACCCCCCACCT CCCCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCAC C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0118 a0001c0002t0013g0118	1	5	0.2000	300	c.39+ others(317): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCC CACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCCACCC CCCACCTCCCCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
AUTS2_chr7_69593475_70798506	70003599	T T	TTATATAT others(293): Show TTATATATGTATATATAATATATATGAATATGTTATATATGAATGTGTTA TATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATA ATATATATGAATGTTATATATGAATATATAATATATATGAATGTGTTATA TATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAAT ATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTTA TATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATA A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0016 a0001c0001t0032g0016	1	63	0.0159	300	c.522 others(321): Show c.522+104109_522+104110insTATATATAATATATATGAATATGT TATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTT ATATATGAATATATATAATATATATGAATGTTATATATGAATATATAATA TATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTTAT ATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAA TATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTT ATATATGAATATATATAATATATATG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82958796	T T	TGTGTGTG others(293): Show TGTGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTA TACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTACACTGGGGGTGTATGG TGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTGTATACTGTGTGGGT GTGTATGGTGTGTGTGTATACTGTGTGGGGGTGTATGTGTGTGTGTGTAC ACTGGGGGTGTATGGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGT GTATACTGTGTGGGGGTGTATGTGTGTGTGTGTACACTGTGGGGGTGTAT G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0028 a0001c0006t0011g0028	1	256	0.0039	300	c.681 others(317): Show c.681-1303_681-1302insCATACACCCCCACAGTGTACACACACAC ACATACACCCCCACACAGTATACACACACACACCATACACCCCCAGTGTA CACACACACCATACACCCCCAGTGTACACACACACACATACACCCCCACA CAGTATACACACACACCATACACACCCACACAGTATACACACACACACCA TACACCCCCAGTGTACACACACACCATACACCCCCAGTGTACACACACAC ACACCATACACCCCCACACAGTATACACACACACACACCATACACCCCCA CACAGTATACACACACACACAC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	511785	C C	CCTTCCAC others(293): Show CCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACC TTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCGCCTTCTGCCTTCCA CCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGT CTTCCACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTC CGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACC TTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02922.hp1 HG01109.hp1 HG02622.hp1 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0020 a0001c0001t0091 a0005c0006t0063 a0001c0001t0020 a0001c0001t0091 a0005c0006t0063	a0001c0001t0020g0130 a0001c0001t0091g0232 a0005c0006t0063g0183 a0001c0001t0020g0130 a0001c0001t0091g0232 a0005c0006t0063g0183	3	392	0.0077	300	c.170 others(319): Show c.170-23329_170-23328insCACCTTCTTCCACCTTCCACCTTCCA CCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGC CTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTC GACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCC TTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
BANP_chr16_87946434_88082316	88054119	C C	CCACAACC others(293): Show CCACAACCACCTTAACAAACACTACCACCACCACCTCCACCATCATCTCC ATCATCATCATCATCACCAACACAACCACCCTAACGACTACCACCCCCAC CTCCTTCACTATCATCACCATCACCAACACAGTCACCTTCACCACCACCA CCGCCACCTCTACCACTGTCATCTCCATCATCATCATCACCAACACAACC ACCTTCACCACCACCTCTACTGTCATCTCCATCATCATCACCAACACAGC CACCCTAACAACCACTACCACCACCACCTCTACTATCTCCATCATCACCA A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp2 HG03471.hp2 others(1): Show HG00642.hp1 HG02451.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0006 a0001c0001t0001g0219 a0001c0001t0001g0228	4	350	0.0114	300	c.131 others(321): Show c.1312-10997_1312-10996insGCCACCTCTACCACTGTCATCTCC ATCATCATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCAT CTCCATCATCATCACCAACACAGCCACCCTAACAACCACTACCACCACCA CCTCTACTATCTCCATCATCACCAACACAACCACCTTAACAAACACTACC ACCACCACCTCCACCATCATCTCCATCATCATCATCATCACCAACACAAC CACCCTAACGACTACCACCCCCACCTCCTTCACTATCATCACCATCACCA ACACAGTCACCTTCACCACCACCACC		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88054290	C C	CCATCATC others(293): Show CCATCATCATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTC ATCTCCATCATCATCACCAACACAGCCACCCTAACAACCACTACCACCAC CACCTCTACTATCTCCATCATCACCAACACAACCACCTTAACAAACACTA CCACCACCACCTCCACCATCATCTCCATCATCATCATCATCACCAACACA ACCACCCTAACGACTACCACCCCCACCTCCTTCACTATCATCACCATCAC CAACACAGTCACCTTCACCACCACCACCACCTCTACCACTGTCATCTCCA T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03139.hp1 HG03209.hp1 others(1): Show HG01167.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0215	4	23	0.1739	300	c.131 others(321): Show c.1312-10966_1312-10965insTCACCAACACAACCACCTTCACCA CCACCTCTACTGTCATCTCCATCATCATCACCAACACAGCCACCCTAACA ACCACTACCACCACCACCTCTACTATCTCCATCATCACCAACACAACCAC CTTAACAAACACTACCACCACCACCTCCACCATCATCTCCATCATCATCA TCATCACCAACACAACCACCCTAACGACTACCACCCCCACCTCCTTCACT ATCATCACCATCACCAACACAGTCACCTTCACCACCACCACCACCTCTAC CACTGTCATCTCCATCATCATCATCA		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(293): Show AAGACACACAGTGACACACAGACACAGAGACACACACAGACATACACAGA CACACACAGACACAGAGACACACACAGACAGACACAGACACACACAGACA CAGTGACACACAGACACAGAGACACACACACAGACACACAGTGACACACA GACACAGAGACACACACACAGACATACACAGACACACACAGACACAGAGA CACACACAGACAGACACAGACACACACAGACACAGTGACACACAGACACA GAGACACACACACAGACACACAGTGACACACAGACACAGAGACACACACA C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG03098.hp1 HG01884.hp2 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0159 a0001c0001t0001g0238 a0001c0001t0018g0160 a0001c0001t0001g0159 a0001c0001t0001g0238 a0001c0001t0018g0160	3	148	0.0203	300	c.586 others(319): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTCTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGT ATGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGT GTGTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTCT GTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTCTCT GTGTCTGTGTGTCACTGTGTGTCT		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BLNK_chr10_96184171_96276569	96269563	T T	TGGGGGGG others(293): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGTGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG GGGGGGTGGTGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGGGGGGGGGGG G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0282 a0001c0001t0020g0282	1	320	0.0031	300	c.47+ others(315): Show c.47+1788_47+1789insCCCCCCCCCCCCCCCCCCCCCACCCCACCC CCCCCCCCCCCACCACCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCC CCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCC CCCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC CCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCC		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	1/16						chr10	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(293): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATACATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATACCCATGG G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0222 a0001c0003t0004g0222	1	336	0.0030	300	c.-81 others(319): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATACC CATGGGTATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA TATATACATATATATATATATATATACCCATGGGTATATATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATACCCATG GGTATATATATATATATATATATA		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
BOP1_chr8_144257045_144296438	144281054	T T	TCTCACTT others(293): Show TCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTC TTCGGCCTTTTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTA ATACCAGGTCTTAGGCCTTCCCTCAGTTTAATACCAGGTCTTAGGCCTTC CCTCAGTTTAATACCAGGTCTTAGGCCTTCCCTCAGTTTAATACCAGGTC TTAGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTA ATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTC C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03239.hp1 HG01516.hp2 HG01517.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0354 a0001c0001t0001g0009 a0001c0001t0001g0354	3	395	0.0076	300	c.310 others(317): Show c.310-4751_310-4750insGGAAGGCCGAAGACCTGGTATGAAAGTG AGAGAAGGCCGAAGACCTGGTATTAAAGTGAGGGAAGGCCGAAGACCTGG TATTAAACTGAGGGAAGGCCTAAGACCTGGTATTAAACTGAGGGAAGGCC TAAGACCTGGTATTAAACTGAGGGAAGGCCTAAGACCTGGTATTAAACTG AGGGAAGGCCTAAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGG TATTAAAGTGAGAAAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCC TAAGACCTGGTATTAAAGTGAG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281436	T T	TGGCCTTC others(293): Show TGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT CGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCAT ACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTCTTAGGCCTTCTC TCACTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0030 a0003c0005t0001g0031 a0003c0005t0001g0030 a0003c0005t0001g0031	2	265	0.0075	300	c.310 others(317): Show c.310-5133_310-5132insGAAGACCTGGTATTAAACTGAGGGAAGG CCGAAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATGAAAG TGAGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCT GGTATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGG CCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATTAAAG TGAGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCT GGTATTAAAGTGAGAGAAGGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BSN_chr3_49549477_49676549	49606255	T T	TACATATA others(293): Show TACATATATTATATATGTATATATTATATATACATATATTATATATGTAT ATATTATATATACATATATTATATATGTATATATTATATATACATATATT ATATATGTATTATATATACATATATTATATATGTATATATTATATATAAA ATATATATAATATATATTAAAAATATATATTATATATATTAAAAATATAT ATAATATATATTAAAAATATATATTATATATATTAAAATATATATATAAT ATATATTAAAAATATATATTATATATATTAAAATATATATAATATATATT A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0001 a0003c0004t0006g0001	1	116	0.0086	300	c.225 others(319): Show c.225-18719_225-18718insCATATATTATATATGTATATATTATA TATACATATATTATATATGTATATATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATTATATATACATATATTAT ATATGTATATATTATATATAAAATATATATAATATATATTAAAAATATAT ATTATATATATTAAAAATATATATAATATATATTAAAAATATATATTATA TATATTAAAATATATATATAATATATATTAAAAATATATATTATATATAT TAAAATATATATAATATATATTAA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(293): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	170	0.0059	300	c.431 others(317): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCC		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
C1orf159_chr1_1076823_1121089	1077455	A A	AGGCTGAG others(293): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGAGGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	289	0.0035	300	c.54 others(311): Show c.5437_*5438insACCCCTCACGGAGTCCCCGTAGCCTCAGCCTCCC CCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCC TCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGT CCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCC CCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCC TCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGT CCCCGTAGCCTCAGCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4367		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077511	G G	GGGGTGGC others(293): Show GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGAGACTCCATGG GGGGAGGCTGAGGCTAGGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG02280.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0283 a0001c0001t0003g0105 a0001c0001t0003g0283	2	274	0.0073	300	c.53 others(311): Show c.5381_*5382insGGCACGGAGTCCCCATAGCCACAGCCACCCGGCA CGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCC CTAGCCTCAGCCTCCCCCCATGGAGTCTCCATAGACTCAGCCTCCCCGCA CGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCC ATAGCCTCAGCCACCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4311		chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39602010	T T	TTCCCTCC others(293): Show TTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02735.hp2 NA19011.hp2 HG02083.hp1 HG02735.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0047 a0001c0002t0004 a0001c0001t0004 a0001c0001t0047 a0001c0002t0004	a0001c0001t0004g0133 a0001c0001t0047g0168 a0001c0002t0004g0196 a0001c0001t0004g0133 a0001c0001t0047g0168 a0001c0002t0004g0196	3	194	0.0155	300	c.482 others(317): Show c.482+1360_482+1361insCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTC GCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCC		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCTTCC others(293): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCT TCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCC T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0212 a0001c0002t0004g0212	1	22	0.0455	300	c.482 others(317): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCCTTCCTTC		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(293): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAA GGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAA GGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAG GGGGGAAGCGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGG GGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGG T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	73	0.0137	300	c.207 others(317): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCC CCCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCTCC CCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCC CTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCAC TTCCTCCCCCTTCCTCCCCCTT		CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37						chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736011	A A	ATATACAT others(293): Show ATATACATATATATATACGTATATATGTATATATATACATATATATACGT ATATATATACATATATATACGTATATATATACATATATATACGTATATAT ATATACATATATATACGTATATATATATACATATATATACATATATACGT ATATATATACATATATATACGTATATATATACATATATACGTATATATAC ATATATATACGTATATATATACATATATATACGTATATATATACATATAT ATACGTGTATATATATACATATATATACGTATATATATACATATATATAC G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0106 a0001c0025t0004g0106	1	113	0.0088	300	c.116 others(321): Show c.1168-16584_1168-16583insCATATATATATACGTATATATGTA TATATATACATATATATACGTATATATATACATATATATACGTATATATA TACATATATATACGTATATATATATACATATATATACGTATATATATATA CATATATATACATATATACGTATATATATACATATATATACGTATATATA TACATATATACGTATATATACATATATATACGTATATATATACATATATA TACGTATATATATACATATATATACGTGTATATATATACATATATATACG TATATATATACATATATATACGTATA		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48857974	C C	CAATAGAA others(293): Show CAATAGAATAGAATAGGATAGGATAGGATAGGATAGGATAGGATAGGATA GGATAGGATAGGATAGGATAGGATAGGATAGGATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0048 a0002c0003t0001g0048	1	140	0.0071	300	c.100 others(319): Show c.1008+1802_1008+1803insGATAGGATAGGATAGGATAGGATAGG ATAGGATAGGATAGGATAGGATAGGATAGGATAGGATAGGATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAG		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(293): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGG AAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGG A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	66	0.0152	300	c.104 others(319): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCC		CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16						chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(293): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGG AAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGG A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	66	0.0152	300	c.104 others(319): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCC		CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16						chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(293): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGG AAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGG A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0059 a0001c0010t0001g0059	1	66	0.0152	300	c.104 others(319): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCCACTCCCCTCCCCTTCCC		CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16						chr9	TogoVar
CCDC127_chr5_191868_223153	194146	A A	ACTGTCCT others(293): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02723.hp2 others(3): Show HG01884.hp1 HG02559.hp1 HG02723.hp2 HG02897.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0039 a0001c0003t0192 others(1): Show a0001c0003t0038 a0001c0003t0039 a0001c0003t0192 a0001c0003t0194	a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0192g0222 others(1): Show a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0192g0222 a0001c0003t0194g0236	6	240	0.0250	300	c.11 others(313): Show c.11150_*11151insAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCTGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAG		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding					2721		chr5	TogoVar
CCDC88C_chr14_91266323_91422820	91293566	C C	CGGCCCAC others(293): Show CGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCT TCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCA CAGCCCACCTTCCTGCCCCCTCGCCTGCCATGGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCATGGCCCACCT TCCTGCCCCCTCGCCTGCCATGGCCCACCTTCCTGTCCCCTCGCCTGCCA T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	279	0.0036	300	c.411 others(317): Show c.4112+606_4112+607insATGGCAGGCGAGGGGACAGGAAGGTGGG CCATGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCAGGCGAGGGGACA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCAGG CGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGG CTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGACA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCC		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29						chr14	TogoVar

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