Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SHC2_chr19_411589_466033	458469	AGACGCAT others(78): Show AGACGCATGTTCCGGGGGACGGGGAAGCAGGTTCCGGGGAGGCGGAAGCG GGTCCTGGGGAGGCGGATTCGGGTTCCGGGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01943.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0014 a0001c0005 a0001c0006 a0001c0014	a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 others(4): Show a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0014t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 others(14): Show a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0022 a0001c0005t0001g0025 a0001c0005t0005g0026 a0001c0005t0006g0010 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0014t0001g0021	17	212	0.0802	-85	c.468 others(102): Show c.468+1975_468+2059delCACCTCCCCGGAACCCGAATCCGCCTCC CCAGGACCCGCTTCCGCCTCCCCGGAACCTGCTTCCCCGTCCCCCGGAAC ATGCGTC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	GAGAATAG others(78): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0123 a0002c0011t0003g0123	1	256	0.0039	-85	c.165 others(102): Show c.165+5366_165+5450delGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401826	CCCCCGGC others(78): Show CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	242	0.0041	-85	c.39 others(96): Show c.3985_*4069delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGGG G		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3889		chr11	TogoVar
SIGIRR_chr11_400716_419999	402431	CCCCCGGC others(78): Show CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG02717.hp1 others(5): Show HG00423.hp1 HG02056.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03831.hp2 HG03834.hp2 NA18995.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0006 a0004c0008 a0001c0003 a0001c0006 a0004c0008	a0001c0003t0001 a0001c0006t0001 a0004c0008t0001 a0001c0003t0001 a0001c0006t0001 a0004c0008t0001	a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 others(5): Show a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0115 a0004c0008t0001g0024	8	242	0.0331	-85	c.33 others(96): Show c.3380_*3464delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGGG G		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3284		chr11	TogoVar
SKI_chr1_2223319_2315213	2281469	GGACGCCC others(78): Show GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	330	0.0030	-85	c.970 others(104): Show c.970-21507_970-21423delACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CATAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281641	GGATGCCC others(78): Show GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0303 a0001c0001t0022g0303	1	330	0.0030	-85	c.970 others(104): Show c.970-21335_970-21251delATGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CAGAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281770	GGACGCCC others(78): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0316 a0001c0001t0021g0316	1	330	0.0030	-85	c.970 others(104): Show c.970-21206_970-21122delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CAGAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282244	GGACGCCC others(78): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0283 a0009c0019t0001g0283	1	330	0.0030	-85	c.970 others(104): Show c.970-20732_970-20648delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1045419	AACGAGTG others(78): Show AACGAGTGGGCGAGTTAGTGTGTGAATGGGTGAGTTAGTGTGTGAATGAG TGGCTGAACGACTGTGAATGGGTGTGTGAACGAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	118	0.0085	-85	c.68 others(96): Show c.6856_*6940delCACTCGTTCACACACCCATTCACAGTCGTTCAGC CACTCATTCACACACTAACTCACCCATTCACACACTAACTCGCCCACTCG T		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding					4964		chr5	TogoVar
SLC1A7_chr1_53082183_53147638	53095579	ATACACTC others(78): Show ATACACTCACACACCCCGCCTCGTTACACACACACTGCCTTGGTACACTT AAACCCGCCTCAGTACACTCACACAACCTGCCTAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03139.hp1 others(1): Show HG02818.hp1 HG03130.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0019 a0001c0008t0006g0233 a0001c0008t0006g0234 a0001c0008t0006g0019 a0001c0008t0006g0233 a0001c0008t0006g0234	4	400	0.0100	-85	c.698 others(102): Show c.698-2104_698-2020delCCTAGGCAGGTTGTGTGAGTGTACTGAG GCGGGTTTAAGTGTACCAAGGCAGTGTGTGTGTAACGAGGCGGGGTGTGT GAGTGTA		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC25A16_chr10_68472998_68532523	68502829	GGGAGGGG others(78): Show GGGAGGGGAAAGGAGGGGGAGGGGGAAGGGAAAGGAGGGGGAGGGGAGGG GAAAGGAGGGGGAGGGGAGGGGAAAGGAGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0301 a0001c0001t0057g0301	1	312	0.0032	-85	c.421 others(100): Show c.421+718_421+802delTCTCCCCCTCCTTTCCCCTCCCCTCCCCCT CCTTTCCCCTCCCCTCCCCCTCCTTTCCCTTCCCCCTCCCCCTCCTTTCC CCTCC		SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	4/8						chr10	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(78): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01071.hp1 others(24): Show HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02083.hp2 HG02293.hp2 HG03688.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18974.hp1 NA18978.hp2 NA18995.hp2 NA19003.hp1 NA19006.hp1 NA19009.hp2 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0021 others(1): Show a0001c0001 a0001c0002 a0001c0021 a0003c0014	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0003c0014t0001	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 others(24): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0093 a0001c0001t0001g0158 a0001c0001t0001g0182 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0121 a0001c0002t0001g0303 a0001c0002t0001g0369 a0001c0021t0001g0175 a0003c0014t0001g0270	27	436	0.0619	-85	c.206 others(104): Show c.2062+1816_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAAAAAA AAAAAAAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC38A10_chr17_81239811_81300307	81245508	CTGGCCGA others(78): Show CTGGCCGAGGAGGGCAGTGGCTGGCGTGGCCCTCATGGCCAGCAGGTGCT AGGACTCCTCTGGAGGCCCAGGCGCCTGTCTAAGCT	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG03688.hp2 HG03688.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0009 a0008c0019t0009	a0008c0019t0009g0013 a0008c0019t0009g0013	1	214	0.0047	-85	c.332 others(93): Show c.3323_*47delAGCTTAGACAGGCGCCTGGGCCTCCAGAGGAGTCCTA GCACCTGCTGGCCATGAGGGCCACGCCAGCCACTGCCCTCCTCGGCCA	p.Gln others(6): Show p.Gln1108fs	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	16/16	3793/4491	3323/3360	1108/1119			chr17	TogoVar
SLC6A3_chr5_1387794_1450440	1393700	TGTGGGGG others(78): Show TGTGGGGGCCCTGCATGCGTCCGGTCCGGGGATAGGACACGCTCCTGTGG GGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0252 a0001c0004t0044g0252	1	373	0.0027	-85	c.95 others(95): Show c.950_*1034delTGGAGCGTGTACTACCCCAGGACGCATGCAGGGCC CCCACAGGAGCGTGTCCTATCCCCGGACCGGACGCATGCAGGGCCCCCAC		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15				950		chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168278	AAGAAAGA others(78): Show AAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGGAAAGAAAGGAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03453.hp2 HG02895.hp1 HG02896.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0000 a0001c0002t0005g0000	3	397	0.0076	-85	c.-30 others(96): Show c.-3078_-2994delAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGGAAAGAAAA G		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2915		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(78): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02015.hp2 HG02027.hp1 others(14): Show HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp1 NA18939.hp2 NA18942.hp1 NA18983.hp2 NA18989.hp1 NA18991.hp1 NA19005.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0140 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0119 a0001c0001t0002g0130	17	380	0.0447	-85	c.17 others(96): Show c.1701_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA G		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SMOC1_chr14_69874416_70037366	69924999	GGAGGTAG others(78): Show GGAGGTAGGGGAGGTAGGGGAGCTGGGGGGAGAGGAGCTAGAGAAGGAGG GGAGGTAGGGGAGGAGTGAGAGTAGGGGAGCTAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(187): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0012 a0003c0008 a0004c0009 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0010 a0001c0006t0034 a0001c0011t0001 a0002c0012t0001 a0003c0008t0002 a0004c0009t0001 a0005c0013t0023	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(182): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0002g0003 a0001c0001t0002g0158 a0001c0001t0003g0016 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0193 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0019 a0001c0001t0004g0047 a0001c0001t0004g0177 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0189 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0005g0239 a0001c0001t0006g0109 a0001c0001t0006g0210 a0001c0001t0006g0225 a0001c0001t0007g0095 a0001c0001t0007g0097 a0001c0001t0007g0100 a0001c0001t0007g0102 a0001c0001t0008g0002 a0001c0001t0008g0057 a0001c0001t0008g0062 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0010g0099 a0001c0001t0011g0075 a0001c0001t0011g0077 a0001c0001t0012g0001 a0001c0001t0014g0106 a0001c0001t0020g0096 a0001c0001t0021g0122 a0001c0001t0022g0094 a0001c0001t0026g0072 a0001c0001t0027g0036 a0001c0001t0031g0053 a0001c0001t0032g0170 a0001c0002t0001g0137 a0001c0002t0001g0257 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0151 a0001c0002t0002g0156 a0001c0002t0002g0164 a0001c0002t0002g0169 a0001c0002t0002g0175 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0200 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0002g0262 a0001c0002t0024g0133 a0001c0002t0025g0240 a0001c0002t0028g0223 a0001c0003t0001g0167 a0001c0003t0001g0182 a0001c0003t0002g0014 a0001c0003t0002g0141 a0001c0003t0002g0171 a0001c0003t0002g0246 a0001c0003t0004g0120 a0001c0004t0001g0265 a0001c0004t0004g0105 a0001c0004t0005g0024 a0001c0004t0006g0201 a0001c0004t0006g0202 a0001c0005t0001g0033 a0001c0005t0001g0040 a0001c0005t0001g0069 a0001c0005t0010g0101 a0001c0006t0034g0092 a0001c0011t0001g0252 a0002c0012t0001g0107 a0003c0008t0002g0251 a0004c0009t0001g0045 a0005c0013t0023g0027	190	270	0.7037	-85	c.100 others(104): Show c.100-27027_100-26943delGGGAGAGGAGCTAGAGAAGGAGGGGA GGTAGGGGAGGAGTGAGAGTAGGGGAGCTAGGAGAGGTAGGGGAGGTAGG GGAGCTGGG		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMYD3_chr1_245744347_246512279	245872370	TCCTGAGC others(78): Show TCCTGAGCTGGCCGACCCCAGGATGGATGTCCTCTTCTCAGATGAGAGAG CCCAGAGTTCCTGCCGCCTTCTCCTTCACCGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02258.hp1 HG00741.hp2 HG01433.hp2 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0002c0016 a0001c0006 a0002c0005 a0002c0016	a0001c0006t0001 a0002c0005t0002 a0002c0016t0001 a0001c0006t0001 a0002c0005t0002 a0002c0016t0001	a0001c0006t0001g0025 a0002c0005t0002g0118 a0002c0016t0001g0097 a0001c0006t0001g0025 a0002c0005t0002g0118 a0002c0016t0001g0097	3	150	0.0200	-85	c.814 others(102): Show c.814-8569_814-8485delGAGGCCGGTGAAGGAGAAGGCGGCAGGA ACTCTGGGCTCTCTCATCTGAGAAGAGGACATCCATCCTGGGGTCGGCCA GCTCAGG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11						chr1	TogoVar
SNED1_chr2_240993618_241100568	241093416	AGCCACAC others(78): Show AGCCACACAGCAAATGCTAATATGCTCCAGTGTTAGCTTAGAAGCCTTGT GTCAACAAGAACTGGCTCCTGAGTCCCAAGCTTGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG01891.hp2 others(45): Show HG01261.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18960.hp1 NA18974.hp1 NA18988.hp1 NA18993.hp2 NA18999.hp2 NA19064.hp2 NA19070.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0011 a0015 a0019 a0022 a0024	a0002c0003 a0002c0007 a0002c0009 others(19): Show a0002c0003 a0002c0007 a0002c0009 a0002c0010 a0002c0019 a0002c0023 a0002c0034 a0002c0060 a0002c0063 a0002c0087 a0002c0096 a0002c0098 a0003c0022 a0003c0031 a0004c0005 a0004c0025 a0004c0027 a0011c0068 a0015c0052 a0019c0064 a0022c0075 a0024c0080	a0002c0003t0004 a0002c0003t0022 a0002c0007t0004 others(30): Show a0002c0003t0004 a0002c0003t0022 a0002c0007t0004 a0002c0007t0012 a0002c0007t0019 a0002c0007t0029 a0002c0009t0004 a0002c0009t0012 a0002c0009t0046 a0002c0010t0019 a0002c0010t0044 a0002c0019t0004 a0002c0019t0047 a0002c0023t0022 a0002c0034t0004 a0002c0060t0022 a0002c0063t0019 a0002c0087t0045 a0002c0096t0039 a0002c0098t0037 a0003c0022t0004 a0003c0031t0004 a0004c0005t0004 a0004c0005t0012 a0004c0005t0031 a0004c0005t0065 a0004c0025t0004 a0004c0027t0012 a0011c0068t0004 a0015c0052t0019 a0019c0064t0004 a0022c0075t0038 a0024c0080t0019	a0002c0003t0004g0011 a0002c0003t0004g0015 a0002c0003t0004g0271 others(45): Show a0002c0003t0004g0011 a0002c0003t0004g0015 a0002c0003t0004g0271 a0002c0003t0022g0023 a0002c0007t0004g0192 a0002c0007t0012g0186 a0002c0007t0019g0227 a0002c0007t0029g0162 a0002c0007t0029g0289 a0002c0009t0004g0040 a0002c0009t0004g0146 a0002c0009t0004g0332 a0002c0009t0012g0034 a0002c0009t0012g0312 a0002c0009t0046g0082 a0002c0010t0019g0195 a0002c0010t0044g0078 a0002c0019t0004g0198 a0002c0019t0047g0321 a0002c0023t0022g0223 a0002c0034t0004g0083 a0002c0060t0022g0052 a0002c0063t0019g0209 a0002c0087t0045g0251 a0002c0096t0039g0032 a0002c0098t0037g0318 a0003c0022t0004g0210 a0003c0031t0004g0269 a0004c0005t0004g0045 a0004c0005t0004g0047 a0004c0005t0004g0151 a0004c0005t0004g0202 a0004c0005t0004g0203 a0004c0005t0012g0016 a0004c0005t0012g0201 a0004c0005t0012g0204 a0004c0005t0031g0059 a0004c0005t0031g0061 a0004c0005t0065g0062 a0004c0025t0004g0080 a0004c0025t0004g0228 a0004c0027t0012g0095 a0004c0027t0012g0096 a0011c0068t0004g0281 a0015c0052t0019g0050 a0019c0064t0004g0126 a0022c0075t0038g0024 a0024c0080t0019g0008	48	344	0.1395	-85	c.19 others(96): Show c.1945_*2029delCTTGGTGCCACACAGCAAATGCTAATATGCTCCA GTGTTAGCTTAGAAGCCTTGTGTCAACAAGAACTGGCTCCTGAGTCCCAA G		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	32/32				5180	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1164476	GGGTGGGA others(78): Show GGGTGGGATATGCCTGGCCTAGGAGGATGAAGTGAGGTAGGAACCTGCCC AAACTGTGGGCAGTCTCTGTGTAGAGGAGAGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 NA20300.hp2 others(1): Show HG02895.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0007 a0007	a0007c0016 a0007c0017 a0007c0024 a0007c0016 a0007c0017 a0007c0024	a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002	a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 others(1): Show a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 a0007c0024t0002g0073	4	190	0.0211	-85	c.412 others(101): Show c.412-1036_412-952delGTAGGAACCTGCCCAAACTGTGGGCAGTC TCTGTGTAGAGGAGAGGGCGAGGTGGGATATGCCTGGCCTAGGAGGATGA AGTGAG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1282659	CCCCCCGC others(78): Show CCCCCCGCCCCCACGTCAGTGAGCTGGGCGCTCTCCAAGGGCTGCCTCCC CCGCACTGTGCATCCCTCCAGGATCACCCCCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	190	0.0053	-85	c.128 others(106): Show c.1284+15127_1284+15211delGGCTGCCTCCCCCGCACTGTGCAT CCCTCCAGGATCACCCCCGCCCACCCCCGCCCCCACGTCAGTGAGCTGGG CGCTCTCCAAG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7724836	TGGAGGTG others(78): Show TGGAGGTGATGGTGGTAGTGGTGATGGTGGTGGTAGTGGTGATGGTGGTG GTGTTGGTGATGGTGGTGATAGTATTGGTGGGAATG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 NA18522.hp1 HG02280.hp1 HG03209.hp2 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0037 a0005c0020 a0001c0001 a0001c0037 a0005c0020	a0001c0001t0013 a0001c0037t0020 a0005c0020t0020 a0001c0001t0013 a0001c0037t0020 a0005c0020t0020	a0001c0001t0013g0125 a0001c0037t0020g0017 a0005c0020t0020g0037 a0001c0001t0013g0125 a0001c0037t0020g0017 a0005c0020t0020g0037	3	168	0.0179	-85	c.261 others(102): Show c.2612-316_2612-232delGAGGTGATGGTGGTAGTGGTGATGGTGG TGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTATTGGTG GGAATGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX18_chr20_64042582_64054639	64042832	CGGGGGTC others(78): Show CGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGGTC GTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-85	c.52 others(96): Show c.5249_*5333delCGTCCCGTCCCCCACGACCCCCGCCCCGTCCCCC ACGACCCCCGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCACGACCCC C		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4749		chr20	TogoVar
ST6GAL1_chr3_186925526_187083553	186984725	CCCTTCCT others(78): Show CCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTC CTTCCCTTCCTCCCTTCCTTCCTTCCTTCCATCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG00735.hp2 others(22): Show HG00323.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01243.hp2 HG01257.hp2 HG01358.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0041 a0001c0002t0008 a0001c0002t0037 a0001c0003t0058 a0001c0003t0060	a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0243 others(22): Show a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0243 a0001c0001t0001g0288 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0336 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0004g0345 a0001c0001t0005g0161 a0001c0001t0005g0277 a0001c0001t0007g0104 a0001c0001t0011g0189 a0001c0001t0041g0105 a0001c0002t0008g0148 a0001c0002t0037g0002 a0001c0002t0037g0072 a0001c0003t0058g0207 a0001c0003t0060g0030	25	362	0.0691	-85	c.-18 others(106): Show c.-183+20838_-183+20922delCTCCTTCCTTCCTTCCCTTCCTCC CTTCCTTCCTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCC		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398474	AGGAGGGA others(78): Show AGGAGGGAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAAAGAGAG AGAAAGAAAGAAAGAGAGGTAAAGAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	316	0.0032	-85	c.111 others(104): Show c.111+17724_111+17808delGGGAAGGAAGAAAGGAAGGAGGGAAG GAAGAGAAAAAGAAAGAGAGAGAAAGAAAGAAAGAGAGGTAAAGAGAAAG AGAGAGGGA		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
STK38L_chr12_27239286_27330959	27241037	TTATATAT others(78): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	374	0.0027	-85	c.-33 others(96): Show c.-3306_-3222delTATATATATTACATATATGACTCTGTATAGTTAT ATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGACT C		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3248		chr12	TogoVar
STOX2_chr4_183900307_184028526	183932335	CAGTATAT others(78): Show CAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATAT GTATGTATACATACAGTATATGTATGTATACATACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01496.hp2 others(6): Show HG00323.hp2 HG01106.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0002 a0001c0001t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0002t0002g0140 a0001c0002t0002g0157 a0001c0002t0002g0219 a0001c0007t0002g0046 a0001c0007t0002g0081 a0001c0007t0002g0253	9	318	0.0283	-85	c.166 others(104): Show c.166+25380_166+25464delAGTATATGTATGTATACATACAGTAT ATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGT ATACATACA		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3						chr4	TogoVar
SYNE3_chr14_95402266_95521650	95423504	AGGGATTT others(78): Show AGGGATTTGATGGGGATGGGGATTTGATGGGGATGGGGATTTGATGGGCA TGGGGATTTGATGGGGATGAGGATTTGGTAGGCATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00735.hp2 others(51): Show HG00408.hp2 HG00558.hp1 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 NA18952.hp2 NA18979.hp1 NA18984.hp2 NA19004.hp2 NA19068.hp2 NA19070.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0023 a0030	a0001c0001 a0001c0021 a0001c0022 others(27): Show a0001c0001 a0001c0021 a0001c0022 a0001c0032 a0001c0039 a0001c0095 a0002c0002 a0002c0007 a0002c0014 a0002c0016 a0002c0091 a0003c0004 a0003c0012 a0003c0042 a0004c0003 a0004c0005 a0004c0035 a0004c0045 a0005c0064 a0006c0044 a0006c0082 a0007c0033 a0008c0031 a0008c0053 a0010c0024 a0011c0037 a0012c0027 a0014c0030 a0023c0087 a0030c0046	a0001c0001t0007 a0001c0001t0041 a0001c0001t0054 others(44): Show a0001c0001t0007 a0001c0001t0041 a0001c0001t0054 a0001c0001t0118 a0001c0021t0102 a0001c0022t0129 a0001c0032t0213 a0001c0039t0007 a0001c0095t0210 a0002c0002t0006 a0002c0007t0006 a0002c0007t0009 a0002c0007t0122 a0002c0007t0125 a0002c0014t0008 a0002c0016t0008 a0002c0016t0030 a0002c0016t0136 a0002c0091t0134 a0003c0004t0031 a0003c0004t0086 a0003c0004t0144 a0003c0004t0145 a0003c0012t0008 a0003c0012t0061 a0003c0042t0174 a0003c0042t0179 a0004c0003t0054 a0004c0003t0099 a0004c0005t0110 a0004c0035t0203 a0004c0045t0093 a0005c0064t0009 a0006c0044t0030 a0006c0082t0090 a0007c0033t0177 a0008c0031t0020 a0008c0053t0020 a0010c0024t0003 a0010c0024t0008 a0010c0024t0062 a0011c0037t0023 a0012c0027t0007 a0014c0030t0168 a0014c0030t0170 a0023c0087t0147 a0030c0046t0171	a0001c0001t0007g0277 a0001c0001t0007g0372 a0001c0001t0041g0002 others(50): Show a0001c0001t0007g0277 a0001c0001t0007g0372 a0001c0001t0041g0002 a0001c0001t0054g0369 a0001c0001t0118g0380 a0001c0021t0102g0090 a0001c0022t0129g0223 a0001c0032t0213g0364 a0001c0039t0007g0085 a0001c0095t0210g0068 a0002c0002t0006g0159 a0002c0007t0006g0247 a0002c0007t0009g0288 a0002c0007t0122g0171 a0002c0007t0125g0290 a0002c0014t0008g0106 a0002c0014t0008g0193 a0002c0016t0008g0195 a0002c0016t0030g0051 a0002c0016t0136g0089 a0002c0091t0134g0181 a0003c0004t0031g0080 a0003c0004t0086g0139 a0003c0004t0144g0180 a0003c0004t0145g0217 a0003c0012t0008g0105 a0003c0012t0061g0190 a0003c0042t0174g0187 a0003c0042t0179g0222 a0004c0003t0054g0382 a0004c0003t0099g0178 a0004c0005t0110g0268 a0004c0035t0203g0037 a0004c0045t0093g0146 a0005c0064t0009g0165 a0006c0044t0030g0041 a0006c0044t0030g0042 a0006c0082t0090g0055 a0007c0033t0177g0353 a0008c0031t0020g0095 a0008c0031t0020g0096 a0008c0031t0020g0301 a0008c0053t0020g0196 a0010c0024t0003g0363 a0010c0024t0008g0069 a0010c0024t0062g0362 a0011c0037t0023g0315 a0011c0037t0023g0316 a0012c0027t0007g0184 a0014c0030t0168g0309 a0014c0030t0170g0086 a0023c0087t0147g0058 a0030c0046t0171g0221	54	384	0.1406	-85	c.272 others(104): Show c.2728-5563_2728-5479delCATGCCTACCAAATCCTCATCCCCAT CAAATCCCCATGCCCATCAAATCCCCATCCCCATCAAATCCCCATCCCCA TCAAATCCC		SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17						chr14	TogoVar
SYTL3_chr6_158645054_158769871	158701186	GTGTAGAT others(78): Show GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0059	1	292	0.0034	-85	c.395 others(102): Show c.395-6043_395-5959delTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGAT		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17						chr6	TogoVar
TAF4B_chr18_26221445_26396685	26303553	TCCCTCCA others(78): Show TCCCTCCACTTTCATACCCCCTCCACTTTCATACCCCTTCCACTTTCATC CTCCCTCCACTTTCATCCTCCCTCCACTTTCATACC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG03139.hp1 others(1): Show HG02258.hp1 HG02895.hp1 HG03139.hp1 HG03209.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0267 a0004c0007t0002g0268 a0004c0007t0002g0270 others(1): Show a0004c0007t0002g0267 a0004c0007t0002g0268 a0004c0007t0002g0270 a0004c0007t0002g0271	4	274	0.0146	-85	c.183 others(106): Show c.1832+10059_1832+10143delTTCCACTTTCATCCTCCCTCCACT TTCATCCTCCCTCCACTTTCATACCCCCTCCACTTTCATACCCCCTCCAC TTTCATACCCC		TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
TAFA5_chr22_48484553_48756932	48735960	ATCCCCCC others(78): Show ATCCCCCCAGGAGGAATGAGAATCGCACTCCTGGAGTCCAGAGTCCATCC CCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04115.hp1 HG00280.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0248 a0001c0001t0010g0224 a0001c0001t0002g0248 a0001c0001t0010g0224	2	258	0.0078	-85	c.391 others(104): Show c.391-13847_391-13763delGGAGTCCAGAGTCCATCCCCCCAGGA GGAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGGAGGAATGAGAAT CGCACTCCT		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272922	TCACCACA others(78): Show TCACCACACATCAGACCCCTGTGACCGATCGCCATCCAGTCACCACACAT CAGACCCCCGGGACCAACCGCCATCCACAGTCACCA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	392	0.0026	-85	c.228 others(102): Show c.2287-727_2287-643delTGGTGACTGTGGATGGCGGTTGGTCCCG GGGGTCTGATGTGTGGTGACTGGATGGCGATCGGTCACAGGGGTCTGATG TGTGGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TFAP2E_chr1_35568314_35600328	35576928	CGCGGGAC others(78): Show CGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGGACCCCAGCGC CAGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01167.hp1 others(14): Show HG01069.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02896.hp1 HG03041.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 others(11): Show a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281	17	370	0.0460	-85	c.562 others(102): Show c.562+1968_562+2052delACCCCAGCGCCAGCGGGACCCCAGCGCC AGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGGACCCCAGCGC CAGCGGG		TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
THOP1_chr19_2780503_2820807	2817994	TCAGAGCA others(78): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 NA18964.hp1 NA19090.hp1 HG03486.hp2 NA18964.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0185 a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0185	3	370	0.0081	-85	c.47 others(96): Show c.4719_*4803delCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGC AGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA A		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2188		chr19	TogoVar
TMEM116_chr12_111926298_112018165	111984591	CTAAAACA others(78): Show CTAAAACAGTATAACTATTGCTTATAACACAAAGGAAAAAGGGTGACTAT AGTGAACAATAACTTAATTGTACATTTTAAAAGAAT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	342	0.0029	-85	c.210 others(102): Show c.210+7082_210+7166delATTCTTTTAAAATGTACAATTAAGTTAT TGTTCACTATAGTCACCCTTTTTCCTTTGTGTTATAAGCAATAGTTATAC TGTTTTA		TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	4/10						chr12	TogoVar
TMPRSS4_chr11_118072078_118126890	118096882	AGAAAGAA others(78): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAGAGAGAAAGGAAAGAAA GAAAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0236 a0007c0010t0001g0236	1	406	0.0025	-85	c.43+ others(100): Show c.43+2057_44-1989delGGAGAGAGAAAGGAAAGAAAGAAAGAGAAA GAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAG		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
TMPRSS4_chr11_118072078_118126890	118096942	GAAAGAAA others(78): Show GAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG01358.hp2 others(15): Show HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01978.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 NA18944.hp1 NA18985.hp1 NA19005.hp1 NA20805.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0009 a0002c0003 others(1): Show a0001c0001 a0001c0009 a0002c0003 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0001c0001t0034 a0001c0009t0001 a0002c0003t0005 a0007c0010t0001	a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0001g0246 others(15): Show a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0003g0279 a0001c0001t0004g0264 a0001c0001t0031g0241 a0001c0001t0034g0134 a0001c0009t0001g0278 a0002c0003t0005g0262 a0002c0003t0005g0263 a0007c0010t0001g0206	18	406	0.0443	-85	c.44- others(100): Show c.44-2042_44-1958delAAAGAAAGGAAGGAAAGAAAGAAAGGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12						chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139936780	TGGAGAGA others(78): Show TGGAGAGAGTGGGGAGTGGGCACTGCAGTGTGGTATAAAGCATGGAGAGA GTGGGCGAGTGGGCACTGCAGTGTGGTATAAAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00738.hp1 others(22): Show HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01106.hp1 HG01169.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 NA19010.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0018 a0001c0020 a0001c0022	a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0004t0033 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0007t0002 a0001c0008t0003 a0001c0008t0018 a0001c0013t0001 a0001c0018t0001 a0001c0020t0007 a0001c0022t0002	a0001c0001t0001g0073 a0001c0001t0008g0083 a0001c0001t0024g0061 others(22): Show a0001c0001t0001g0073 a0001c0001t0008g0083 a0001c0001t0024g0061 a0001c0002t0002g0039 a0001c0002t0003g0007 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0017g0036 a0001c0002t0019g0032 a0001c0002t0022g0009 a0001c0003t0001g0052 a0001c0003t0011g0011 a0001c0004t0001g0086 a0001c0004t0001g0097 a0001c0004t0033g0084 a0001c0005t0004g0056 a0001c0005t0008g0065 a0001c0005t0009g0057 a0001c0007t0002g0031 a0001c0008t0003g0021 a0001c0008t0018g0023 a0001c0013t0001g0095 a0001c0018t0001g0096 a0001c0020t0007g0034 a0001c0022t0002g0040	25	98	0.2551	-85	c.281 others(106): Show c.2811-26565_2811-26481delGTGCTTTATACCACACTGCAGTGC CCACTCGCCCACTCTCTCCATGCTTTATACCACACTGCAGTGCCCACTCC CCACTCTCTCC		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	19/22						chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157230	CTTTTCCA others(78): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0016 a0001c0024t0016	a0001c0024t0016g0050 a0001c0024t0016g0050	1	98	0.0102	-85	c.255 others(106): Show c.2556+64144_2556+64228delAGGGAGGCTTTTGAATGGAAAAGG GAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTT TGAATGGAAAA		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(78): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG03017.hp1 others(1): Show HG00140.hp2 HG01261.hp1 HG03017.hp1 NA20129.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0036 a0001c0001 a0022c0036	a0001c0001t0001 a0022c0036t0016 a0001c0001t0001 a0022c0036t0016	a0001c0001t0001g0021 a0001c0001t0001g0135 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0135 a0001c0001t0001g0142 a0022c0036t0016g0049	4	180	0.0222	-85	c.188 others(102): Show c.1884+801_1884+885delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCT		TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17						chr6	TogoVar
TSC22D1_chr13_44427143_44581330	44469421	CTACTTCA others(78): Show CTACTTCAAATGAGCTGCTTTTACTAATAGCTCTTAAACTTTTGGCAGAA TATGTAGGAGGATGTTCTTAACACAAATTAAGCTCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	240	0.0042	-85	c.291 others(106): Show c.2913-33411_2913-33327delAGAGCTTAATTTGTGTTAAGAACA TCCTCCTACATATTCTGCCAAAAGTTTAAGAGCTATTAGTAAAAGCAGCT CATTTGAAGTA		TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2						chr13	TogoVar
TTC38_chr22_46263008_46299008	46290466	GTAGGAGG others(78): Show GTAGGAGGGTGGCGTGGCTGGAGGGTGAGTGTTAGGGTGGCATGGCTGGA GGGTGAGTGTGTTAGGGCAGCGTGGCTGGAGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02809.hp2 HG02965.hp2 HG03209.hp2 NA18906.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0023 a0001c0002 a0010c0023	a0001c0002t0001 a0010c0023t0001 a0001c0002t0001 a0010c0023t0001	a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 others(4): Show a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0156 a0010c0023t0001g0119	7	232	0.0302	-85	c.131 others(102): Show c.1316+579_1316+663delCGTGGCTGGAGGGTGAGTGTTAGGGTGG CATGGCTGGAGGGTGAGTGTGTTAGGGCAGCGTGGCTGGAGGGTGTTAGG AGGGTGG		TTC38	ENSG00000075234.17	transcript	ENST00000381031.8	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029019	CCCCACAC others(78): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACACTCGTAAAGACCCCATCACACCATCCTGAAGA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0023 a0023	a0023c0013 a0023c0013	a0023c0013t0001 a0023c0013t0001	a0023c0013t0001g0060 a0023c0013t0001g0060	1	224	0.0045	-85	c.225 others(104): Show c.2251+1326_2251+1410delTCTTCAGGATGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029062	CCCCACAC others(78): Show CCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0124 a0004c0004t0001g0124	1	224	0.0045	-85	c.225 others(104): Show c.2251+1283_2251+1367delTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGT GTGTGTGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291663	CCGTGTCC others(78): Show CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTC CGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03654.hp2 HG02451.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0010t0002 a0001c0001t0002 a0001c0010t0002	a0001c0001t0002g0166 a0001c0010t0002g0041 a0001c0001t0002g0166 a0001c0010t0002g0041	2	284	0.0070	-85	c.121 others(102): Show c.1214+751_1214+835delAGGGACACGGGGACACGGAGGGACATGG GGGACACGGACGGTGCATGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCG GGACACG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291751	GTGTCCCC others(78): Show GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGC GCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19009.hp1 HG02559.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0200 a0002c0003t0002g0087 a0001c0001t0001g0200 a0002c0003t0002g0087	2	284	0.0070	-85	c.121 others(102): Show c.1214+663_1214+747delTGGGGGACACGGAGGGACATGGGGGACA CGGAGGGCGCGTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACAC GGGGACA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP3_chr13_112480011_112593153	112488600	CCACCCCC others(78): Show CCACCCCCAGGTCCCCACACCCACCACAGGGGAGCACAGGGGTCACCCCC AGGTCCCCACATCCCACCACAGGGGAGCACAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	312	0.0032	-85	c.256 others(102): Show c.2565+896_2565+980delACCCCTGTGCTCCCCTGTGGTGGGATGT GGGGACCTGGGGGTGACCCCTGTGCTCCCCTGTGGTGGGTGTGGGGACCT GGGGGTG		TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	21/21						chr13	TogoVar
TULP4_chr6_158307465_158516828	158491391	TTCTTTCT others(78): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19062.hp2 NA18971.hp1 NA19062.hp2	a0001 a0019 a0001 a0019	a0001c0004 a0019c0050 a0001c0004 a0019c0050	a0001c0004t0009 a0019c0050t0011 a0001c0004t0009 a0019c0050t0011	a0001c0004t0009g0153 a0019c0050t0011g0195 a0001c0004t0009g0153 a0019c0050t0011g0195	2	268	0.0075	-85	c.163 others(104): Show c.1631+1661_1631+1745delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTTCT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
UBE2G2_chr21_44763580_44806820	44764273	CCCAGCAC others(78): Show CCCAGCACACCCGGGCACCCAGCACACCCGGGCATCCAGCACACCCGGGA CACCCGGCACACCCAGGCACCCGGCACACCCAGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	368	0.0027	-85	c.70 others(96): Show c.7019_*7103delTGCCTGGGTGTGCCGGGTGCCTGGGTGTGCCGGG TGTCCCGGGTGTGCTGGATGCCCGGGTGTGCTGGGTGCCCGGGTGTGCTG G		UBE2G2	ENSG00000184787.19	transcript	ENST00000345496.7	protein_coding					4306		chr21	TogoVar
URI1_chr19_29937239_30021612	30016766	GTCTTATA others(78): Show GTCTTATAACAGAGTATTAAATTGTAATTTAAAATTATAGCTTTTTTATA TTAAAGTTTGGGACAAAATGAAGCTGTCTTACCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0011 a0004c0005t0001g0012 a0004c0005t0001g0011 a0004c0005t0001g0012	2	328	0.0061	-85	c.16 others(96): Show c.1698_*1782delTCTTATAACAGAGTATTAAATTGTAATTTAAAAT TATAGCTTTTTTATATTAAAGTTTGGGACAAAATGAAGCTGTCTTACCTG T		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding					155		chr19	TogoVar

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