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
SCNN1D_chr1_1275436_1297025	1289579	T T	TCCCGTGT others(209): Show TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	216	c.166 others(233): Show c.1663-683_1663-682insGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(209): Show ATATATATATATACGTGTATATATATATACGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATACGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATACGTATATATATATACGTGTAT ATATATATACGTATATATATATATACGTGTATATATATATATATATACGT GTATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0023 a0003c0001t0023	a0003c0001t0023g0109 a0003c0001t0023g0109	1	280	0.0036	216	c.11 others(229): Show c.11400_*11401insCACGTATATATATATACACGTATATATATATA TATATACACGTATATATATATATACGTATATATATATACACGTATATATA TATACGTATATATATATATACACGTATATATATATATACGTATATATATA TATACGTATATATATATATACACGTATATATATATATACGTATATATATA TATACGTATATATATATACACGTATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(209): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAG CTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAG ACAGCTAGTGGGCAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18522.hp1 NA21309.hp2 HG03669.hp2 NA18522.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0151 a0002c0003t0001g0166 a0002c0003t0001g0130 a0002c0003t0001g0151 a0002c0003t0001g0166	3	189	0.0159	216	c.122 others(235): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGG CAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGG GCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGG GTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(209): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	324	0.0031	216	c.97 others(225): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTTC TGCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(209): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0184	1	324	0.0031	216	c.97 others(225): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTTC TGCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(209): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0015 a0006c0008t0001g0015	1	322	0.0031	216	c.154 others(233): Show c.1545-239_1545-238insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(209): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	360	0.0028	216	c.43 others(227): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGT CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(209): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0117 a0001c0002t0006g0117	1	214	0.0047	216	c.691 others(235): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(209): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0087 a0003c0005t0001g0087	1	242	0.0041	216	c.43 others(227): Show c.4329_*4330insGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SKI_chr1_2223319_2315213	2282127	A A	AGACAGGC others(209): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCAGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGAT CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGA GAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	330	0.0030	216	c.970 others(235): Show c.970-20842_970-20841insCGGCGGCGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCAGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(209): Show GTATATATATATATATATATATATATATATATATATACTCTAAGTATTAT ATATTATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATAT ATGTATATATATATATATTTATACACACATATATATACATACACATATAT ATATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGA GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0246 a0001c0004t0002g0246	1	266	0.0038	216	c.240 others(235): Show c.2402+1023_2402+1024insTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATAT ATATTTATACACACATATATATACATACACATATATATATACACACACAC ACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATAT ATATATATATATATATATATATATATATATATATATATAC	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1061412	A A	ATGCGGGA others(209): Show ATGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTG CGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGCCTCACCCGGAA CATCCACAGTGTGGGACTGCTGCGTCTCACCCACCGCACCTGCCGTGCAG GATCCCTGAGTCTCACCCACCGCACCCGCCGTGCAGGATCCCTGAGTCTC ACCCGCCGCACCCGCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 NA18906.hp2 HG01884.hp2 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0031 a0001c0014 a0001c0031	a0001c0014t0003 a0001c0031t0003 a0001c0014t0003 a0001c0031t0003	a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0031t0003g0007 a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0031t0003g0007	3	118	0.0254	216	c.274 others(233): Show c.2740-962_2740-961insCGGCGGGTGCGGCGGGTGAGACTCAGGG ATCCTGCACGGCGGGTGCGGTGGGTGAGACTCAGGGATCCTGCACGGCAG GTGCGGTGGGTGAGACGCAGCAGTCCCACACTGTGGATGTTCCGGGTGAG GCGCAGGGGTCCCGCACGGCGGGTGCGGTGGGTGAGACGCAGGGGTCCCG CACGGCGGGTGCGGTGGGTGAGACGCAGGGGTCCCGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071152	C C	CAGCCCCA others(209): Show CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	216	c.224 others(235): Show c.2241+2480_2241+2481insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCA CTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(209): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 NA18941.hp1 others(2): Show HG00621.hp2 HG01243.hp2 NA18941.hp1 NA18983.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0020	a0001c0001t0002g0075 a0001c0001t0003g0015 a0001c0001t0004g0101 others(2): Show a0001c0001t0002g0075 a0001c0001t0003g0015 a0001c0001t0004g0101 a0001c0002t0002g0014 a0001c0002t0020g0027	5	164	0.0305	216	c.203 others(233): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36810888	T T	TGGGGGAA others(209): Show TGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATT CAGCATATGATAGAGAAAAGAGCGGGGGAAATAATTCAGCATATGATAGA GAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGG AAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCAT ATGATAGAGAAAAGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	164	0.0061	216	c.203 others(233): Show c.203+3029_203+3030insGCTCTTTTCTCTATCATATGCTGAATTA TTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTT TTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATG CTGAATTATTTCCCCCGCTCTTTTCTCTATCATATGCTGAATTATTTCCC CCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC27A5_chr19_58493333_58516992	58502666	A A	AACAGTTA others(209): Show AACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAG TGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATG GATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGT TAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTG AGTAGATGGATGGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	424	0.0024	216	c.105 others(235): Show c.1058-1257_1058-1256insCCACCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGTCCAC CCATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCTACTC ACTCACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAA CTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(209): Show TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATACATATGTACA TATACACATATACATATGTACATATGTACATATACATATGTATATATACA TATATGTACATATATAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0144 a0001c0001t0036g0144	1	182	0.0055	216	c.173 others(235): Show c.173+15783_173+15784insGTACATATATACATATGTATATATAC ATATATGTACATATGTACATATATACATATGTATATATACATATATGTAC ATATGTACATATATACATATGTATATATACATATATGTACATATGTACAT ATATACATATACATATGTACATATACACATATACATATGTACATATGTAC ATATACATATGTATATATACATATATGTACATATATACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(209): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAATATTTTTAAAAAACACTTTTAAAAAATAT TTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	388	0.0026	216	c.144 others(233): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAATATTTTTAAA AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501075	A A	AATATAAT others(209): Show AATATAATATATATTATATTTTATATTATAATATATAATATATATTATAT TTTATATTATAATATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	340	0.0029	216	c.17 others(235): Show c.174+9803_*174+9804insCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTAT ATATCATAAAATATAATGTATATTATATATTATAATATAAAATATAATAT ATATTATATATTATAATATAAAATATAATATATATTATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501352	T T	TCTATAAT others(209): Show TCTATAATATTATAGAATATAATATTATAGAATATAATATATAACATAAT ATATATTATAGAATATAATATATAACATAATATATATTATAGAATATAAT ATATAACATAATATATATTATAGAATATAATATATAACATAATATATATT ATAGAATATAATATATAACATAATATATATTATAGAATATAATATATAAC ATAATATATATTATAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0334 a0002c0002t0002g0334	1	340	0.0029	216	c.17 others(235): Show c.174+9526_*174+9527insTCTATAATATATATTATGTTATATAT TATATTCTATAATATATATTATGTTATATATTATATTCTATAATATATAT TATGTTATATATTATATTCTATAATATATATTATGTTATATATTATATTC TATAATATATATTATGTTATATATTATATTCTATAATATATATTATGTTA TATATTATATTCTATAATATTATATTCTATAATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501395	T T	TATATATT others(209): Show TATATATTATTATATATTATAAAATATAATATATTATTATATATTATAAA ATATAATATATTATTATATATTATAAAATATAATATATTATTATATATTA TAAAATATAATATATTATTATATATTATAAAATATAATATATTATTATAT ATTATAAAATATAATATATTATTATATATTATAAAATATAATATATTATT ATATATTATAAAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	340	0.0029	216	c.17 others(235): Show c.174+9483_*174+9484insTATATTTTATAATATATAATAATATA TTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATAA TATATTATATTTTATAATATATAATAATATATTATATTTTATAATATATA ATAATATATTATATTTTATAATATATAATAATATATTATATTTTATAATA TATAATAATATATTATATTTTATAATATATAATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168593930	G G	GCTCCTCC others(209): Show GCTCCTCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACAAGGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTA GAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCT AGAGGATCGCCGAGCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	180	0.0056	216	c.638 others(233): Show c.638-4877_638-4876insCCTTCCTAAGGCCTCACGGGCATCTTTC TAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACAAGGGGCATC TTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGG GCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974629	C C	CAGGGAAA others(209): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0113 a0002c0004t0001g0113	1	150	0.0067	216	c.532 others(235): Show c.532-44693_532-44692insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974773	C C	CAGGGAAA others(209): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0122 a0002c0017t0001g0122	1	150	0.0067	216	c.532 others(235): Show c.532-44837_532-44836insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTAGGC CGGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974869	C C	CAGGGAAA others(209): Show CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0126 a0002c0004t0001g0126	1	150	0.0067	216	c.532 others(235): Show c.532-44933_532-44932insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTAGGCCGGA GACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974869	C C	CAGGGAAA others(209): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0140 a0002c0004t0001g0140	1	150	0.0067	216	c.532 others(235): Show c.532-44933_532-44932insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGC TAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	AAATATAT others(209): Show AAATATATATAAATATATATAAATATATAAAAAATATATATAAATATATA AATATATAAAAAATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATAAAAAAATATATATATATAAAAATATATATAAATATATAA AAATATATTTATATATATAAATATATTTATATATAAATATAAATATATAT AAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03041.hp1 others(3): Show HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0080 others(1): Show a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0080 a0001c0001t0002g0088	6	186	0.0323	216	c.-50 others(227): Show c.-5060_-5059insAATATATATAAATATATATAAATATATAAAAAAT ATATATAAATATATAAATATATAAAAAATATATATAAATATATATAAATA TATATAAATATATATATAAATATATAAAAAAATATATATATATAAAAATA TATATAAATATATAAAAATATATTTATATATATAAATATATTTATATATA AATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SNTG2_chr2_945849_1372613	1221809	C C	CTCTGTCT others(209): Show CTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCC CTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCT GTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGG TTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCT GTCTCTGCCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp2 NA18942.hp2 others(3): Show HG00735.hp1 HG01346.hp2 NA18942.hp2 NA18968.hp2 NA18986.hp1 NA19000.hp2	a0003 a0008 a0021 a0003 a0008 a0021	a0003c0007 a0003c0008 a0008c0011 others(1): Show a0003c0007 a0003c0008 a0008c0011 a0021c0027	a0003c0007t0001 a0003c0008t0001 a0008c0011t0001 others(1): Show a0003c0007t0001 a0003c0008t0001 a0008c0011t0001 a0021c0027t0001	a0003c0007t0001g0018 a0003c0008t0001g0095 a0008c0011t0001g0128 others(3): Show a0003c0007t0001g0018 a0003c0008t0001g0095 a0008c0011t0001g0128 a0008c0011t0001g0182 a0008c0011t0001g0188 a0021c0027t0001g0127	6	190	0.0316	216	c.719 others(235): Show c.719+12582_719+12583insGTCTCTGTCTCTAGCTCTGCCTCTGT TAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGC CTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCT CTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCT CTCTCTGTCTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557544	C C	CCTCTTCC others(209): Show CCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	322	0.0031	216	c.55 others(227): Show c.5577_*5578insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3548		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7448866	T T	TCCTCTTT others(209): Show TCCTCTTTTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTC CTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTC TTCCTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	168	0.0060	216	c.548 others(235): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTTC CTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTT TCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCTCTTCCTCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(209): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0060 a0002c0004t0008g0060	1	168	0.0060	216	c.548 others(235): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449237	C C	CCCTCCCT others(209): Show CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0020 a0001c0037t0020	a0001c0037t0020g0017 a0001c0037t0020g0017	1	168	0.0060	216	c.548 others(235): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706055	C C	CCTGGGCA others(209): Show CCTGGGCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGGATGAGGCTGAGC TCTGTCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGACAGGGATGAGGCT GGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGGGATGA GGCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGG ATGAGGCTGAGCTCTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0044 a0001c0036t0044	a0001c0036t0044g0022 a0001c0036t0044g0022	1	168	0.0060	216	c.186 others(235): Show c.1868+1795_1868+1796insCGTCTGGGCAGGGATGAGGCTGAGCT CTGTCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGACAGGGATGAGGCTG GGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGGGATGAG GCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGGA TGAGGCTGAGCTCTGTCTGGGCAGGGATGAGGCTGGGCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121480691	A A	AGGCAGGC others(209): Show AGGCAGGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATAC CTATAGGCAGGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAG ATACCAATAAGCAAGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGC ACAGATACCAATAAGCAAGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTA GTGCACAGATACCTATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0133 a0001c0003t0002g0133	1	272	0.0037	216	c.528 others(233): Show c.528+2506_528+2507insGGCTCCATCTCCTCCTCCCCAGCTCCTC CCCTAGTGCACAGATACCAATAAGCAAGCTCCATCTCCTCCTCCCCAGCT CCTCCCCTAGTGCACAGATACCAATAAGCAAGCTCCATCTCCTCCTCCCC AGCTCCTCCCCTAGTGCACAGATACCTATCGGCAGGCTCCATCTCCTCCT CCCCAGCTCCTCCCCTAGTGCACAGATACCTATAGGCA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(209): Show ATAATAATATATATATTATATATATATTATTATATATATTATATATATAA TAATATATATATAATATATATATTATATATATAATATATAATATATATAT TATATATATTATATAATATATATATTATATTATATTATATAATATATATA TTATATATAATATATATATTATATATATTATATATATTATATAATATATA TATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0083 a0007c0007t0001g0083	1	86	0.0116	216	c.107 others(237): Show c.1071-29012_1071-29011insTAATAATATATATATTATATATAT ATTATTATATATATTATATATATAATAATATATATATAATATATATATTA TATATATAATATATAATATATATATTATATATATTATATAATATATATAT TATATTATATTATATAATATATATATTATATATAATATATATATTATATA TATTATATATATTATATAATATATATATTATATATAATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(209): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGGG GGAAGGGGGAGAGGGGAGGGGGAGGGGGAGGGGGGACGGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGG GAGGGGGAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA20752.hp2 HG01099.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0194 a0001c0001t0008g0195	2	251	0.0080	216	c.35 others(225): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCGTCCCC CCTCCCCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCC CCCTCCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCT CCCCCCTTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(209): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGG GGGAAGGGGGAGGGGGAGGGGGGACGGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGG GAGGGGGAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0039 a0004c0005t0039	a0004c0005t0039g0176 a0004c0005t0039g0176	1	251	0.0040	216	c.35 others(225): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCGTCCCCCCTCCCCCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCC CCTCCCCCCTCCCCTTCCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCT CCCCCCTTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	216	c.54 others(227): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	216	c.54 others(227): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	216	c.54 others(227): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	216	c.54 others(227): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPG7_chr16_89503403_89562766	89536032	C C	CTGTGGCC others(209): Show CTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCT GTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGC CTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGC TTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGG TGCTGTGTGGCCTTCAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	358	0.0028	216	c.132 others(235): Show c.1324+3426_1324+3427insCTGTGGCCTCTCTGGTGCTGTGTGGC CTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCTTCAGTG TGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTG TGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRMS_chr20_63533489_63552749	63535956	C C	CTCCTCTC others(209): Show CTCCTCTCCTGGCCTCCCGCCCCCCCCCCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCAC CTGGCCTCCCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0030 a0005c0007t0002g0030	1	356	0.0028	216	c.48 others(227): Show c.4861_*4862insACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGG CCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGG TGAGGGGGGGGGGGCGGGAGGCCAGGAGAGGA	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2532		chr20	TogoVar
SRXN1_chr20_641615_658200	642420	G G	GGCCCAGC others(209): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	216	c.62 others(227): Show c.6293_*6294insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4194		chr20	TogoVar
STX8_chr17_9245471_9580820	9429837	A A	ATATATAA others(209): Show ATATATAATATATTTTATATATAATATATTATGTATTATATATAATATAT ATAATATATATAATATATTATATATATTATATATAATATATATTATATAT TATATATATAATATATTATATATAATATATATAATATATATTATATATAT TATATATTATATATAATATATTATATATTATATATATTATATATTATATA TTATATATAATATATTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0047 a0001c0003t0001g0072 a0001c0002t0002g0047 a0001c0003t0001g0072	2	188	0.0106	216	c.542 others(235): Show c.542-51185_542-51184insGAATATATTATATATAATATATAATA TATAATATATATAATATATAATATATTATATATAATATATAATATATATA ATATATATTATATATATTATATATAATATATTATATATATAATATATAAT ATATATTATATATAATATATATAATATATTATATATATTATATATATTAT ATATAATACATAATATATTATATATAAAATATATTATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SV2B_chr15_91095257_91307565	91270863	T T	TGATGGGA others(209): Show TGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTG TGGACGATGGGCGGACGGTGAATCTTGTGGACGATGGGAGGACGGTGAGT CCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGT GAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGA CGGTGAGTCCTGTGGAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0020 a0001c0004t0024g0020	1	214	0.0047	216	c.137 others(235): Show c.1373+2264_1373+2265insAGGACGGTGAGTCCTGTGGACGATGG GAGGACGGTGAGTCCTGTGGACGATGGGCGGACGGTGAATCTTGTGGACG ATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTG GACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCC TGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGG	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91270937	C C	CTGTGGAT others(209): Show CTGTGGATGATGGGCGGATGGTGAATCTTGTGGACGATGGGAGGACGGTG AGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGAC GGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGA GGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGAT GGGCGGACGGTGAATCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02258.hp1 others(4): Show HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02486.hp2 HG02886.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0013 a0001c0004t0026 a0001c0004t0027 others(3): Show a0001c0004t0013 a0001c0004t0026 a0001c0004t0027 a0001c0004t0037 a0001c0004t0070 a0001c0009t0013	a0001c0004t0013g0186 a0001c0004t0026g0011 a0001c0004t0026g0075 others(4): Show a0001c0004t0013g0186 a0001c0004t0026g0011 a0001c0004t0026g0075 a0001c0004t0027g0148 a0001c0004t0037g0194 a0001c0004t0070g0188 a0001c0009t0013g0155	7	214	0.0327	216	c.137 others(235): Show c.1373+2338_1373+2339insTGATGGGCGGATGGTGAATCTTGTGG ACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCT GTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAG TCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGG TGAGTCCTGTGGACGATGGGCGGACGGTGAATCTTGTGGA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
TBC1D22A_chr22_46757650_47180693	47127963	T T	TTCCCTCC others(209): Show TTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCCCACCCATCCC CCCATCCTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCTCCTCCACC CCACCCGTCCTTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCC CACCCATCCCCCCATCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0033 a0001c0004t0022g0033	1	112	0.0089	216	c.142 others(237): Show c.1425+16436_1425+16437insCCCCATCCTCCCTCCACCCCACCC ATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCTCCTCCACCC CACCCGTCCTTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCCC ACCCATCCCCCCATCCTCCCTCCACCCCACCCATCCCCCCATCCTCCCTC CACCCCACCCATCCCCCCATCCTCCCTCCACCCCACCCATCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(209): Show GACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGG ACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGAC TGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(98): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0012 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0014 others(11): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0011 a0002c0025 a0002c0040 a0007c0016 a0012c0021 a0014c0034 a0015c0036 a0017c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0007c0016t0001 a0012c0021t0009 a0014c0034t0001 a0015c0036t0003 a0017c0022t0005	a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 others(98): Show a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0213 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0029g0256 a0001c0002t0040g0254 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0264 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0211 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0297 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0296 a0002c0003t0015g0303 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0250 a0002c0006t0005g0283 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0011t0003g0295 a0002c0025t0002g0131 a0002c0040t0003g0307 a0007c0016t0001g0257 a0007c0016t0001g0318 a0012c0021t0009g0272 a0014c0034t0001g0277 a0015c0036t0003g0305 a0017c0022t0005g0284	101	318	0.3176	216	c.771 others(233): Show c.771+3812_771+3813insGGTCCATGCTGTGTGACTGGGACCACTG GATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785513	C C	CACCCATC others(209): Show CACCCATCGCAGCGGGAGGGGGGTCCATGATGTGTGACTGGGACCACTGG ATCCCGTCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGG ACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGAC TGGGACCACTGGACCCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp2 others(12): Show HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG02055.hp1 HG02257.hp1 HG02451.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 NA19030.hp1 NA21309.hp2	a0002 a0020 a0002 a0020	a0002c0008 a0020c0019 a0002c0008 a0020c0019	a0002c0008t0007 a0002c0008t0019 a0020c0019t0002 a0002c0008t0007 a0002c0008t0019 a0020c0019t0002	a0002c0008t0007g0140 a0002c0008t0007g0148 a0002c0008t0007g0149 others(12): Show a0002c0008t0007g0140 a0002c0008t0007g0148 a0002c0008t0007g0149 a0002c0008t0007g0150 a0002c0008t0007g0151 a0002c0008t0007g0152 a0002c0008t0007g0153 a0002c0008t0007g0154 a0002c0008t0007g0156 a0002c0008t0007g0157 a0002c0008t0007g0158 a0002c0008t0007g0159 a0002c0008t0019g0146 a0002c0008t0019g0147 a0020c0019t0002g0169	15	318	0.0472	216	c.771 others(233): Show c.771+3812_771+3813insGGTCCATGATGTGTGACTGGGACCACTG GATCCCGTCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar

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