Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DCC_chr18_52335197_53540899	53085995	CTCCTTCT others(571): Show CTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTT CTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTT CTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCT TTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 NA18966.hp2 others(2): Show HG02257.hp1 HG02922.hp1 NA18966.hp2 NA18979.hp2 NA19065.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0006c0021	a0001c0002t0005 a0001c0002t0034 a0001c0003t0032 others(2): Show a0001c0002t0005 a0001c0002t0034 a0001c0003t0032 a0002c0001t0005 a0006c0021t0031	a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0003t0032g0109 others(2): Show a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0003t0032g0109 a0002c0001t0005g0078 a0006c0021t0031g0004	5	114	0.0439	-578	c.126 others(21): Show c.1261+19831_1261+20408del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT9_chr12_132191372_132334589	132233052	AGAGGAGA others(571): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	181	0.0055	-578	c.107 others(21): Show c.1077+14280_1077+14857del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
KCTD2_chr17_75042225_75070886	75065090	CGCCGTTT others(571): Show CGCCGTTTCCTTCATTCCTCTTAGATTCCATAGTTGCCGCCATGAAAAGA CTGCTCTTGAGCCCCAAGGCACAGGCACGTGCTCTGGGAAATAGACAGGA GTGGTATTTCCGCCCTCTCGGAGGGCTGGTGTTCACCAAGTTTCCCTCCT CGCTGCAACCCAATGACACCTGTATTGTTCCAGCGCTCCAGGACTCTGGG TTCTTAAGATTTCTGGGAGCGTTGTTCACCCACCCCCTTTAGGAACCAGG CTGGTGTTCTTGCTTGAAAGCGTTGTGCCCTCTGAGTGTCTGGCTGATCA CATCAGAGAGGTCTGCGTGGCAGTTTGGGGCTGTCACGTGACCAGTGACC CACACTCTCTGCTGCCCAGTACTGCCAAGTGGGGAGGGTCCTGCCTTTTT CTCTGCCCCAGGTCTGGGACGCAGGTGATGCCAGCCAGGCCCAGGAGTGC CCAGCATCCCCCAACTGATGACACAGTAGCACTGATTCTGTCTTTTCCTC AGAATCTGGCCTTTTTCCATGGCAATGAGGTGGGGCCCAGCCTCCTCTAA AGTGACTTTGTTTCTGCACAGTTGTAACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0127 a0001c0001t0024g0127	1	406	0.0025	-578	c.20 others(11): Show c.2046_*2623del		KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	6/6				2046	INFO_REALIGN_3_PRIME	chr17	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(571): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	273	0.0037	-578	c.25 others(11): Show c.2586_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186689	GACACGGG others(571): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAATACCAACACGGGAGGAACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	348	0.0029	-578	c.19 others(11): Show c.1931_*2508del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2300		chr16	TogoVar
MAPK9_chr5_180228143_180297083	180286145	TTTCTTTT others(571): Show TTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC TGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTATGATCCGCCCGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCT CCTACTGTAATTCTTATGAAGAATAGCTTGGTATAACAACGTAATCTTTC TTTGATAATCAAGAACCTTGCAGCTCTCAGGGCCATCCTCTGTAGTTCTT AAGCCACAGTATATACCACAATACAGAACAACTAGCATTTGGTTATCACT TCACCCACTGTTGGATCCATAGGACCCTGCAAGGATCTCCGTCACCAGCC CCACTTCCAGGCACCCAGGCCTGCCTATTTCCCTCTCAATCCCCCACTCC CAGGGCCCTGGGTAAGGGCTTCTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01192.hp2 others(16): Show HG00609.hp2 HG00642.hp1 HG01192.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG03486.hp1 HG03834.hp2 HG03927.hp1 NA18612.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA19009.hp2 NA19010.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0020 a0001c0001t0001g0209 a0001c0001t0001g0239 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0209 a0001c0001t0001g0239 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0037g0281	19	370	0.0514	-578	c.-48 others(17): Show c.-48+5125_-47-5538del		MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding	1/11						chr5	TogoVar
NKD2_chr5_1003802_1043943	1022416	GCTGTGGG others(571): Show GCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGT GTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGC CCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGT CCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTG TGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	317	0.0032	-578	c.142 others(17): Show c.142-9724_142-9147del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCNT_chr21_46319156_46450769	46383761	AGCGGAAG others(571): Show AGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCA GTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATT CACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATT CAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCA TTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCA TTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCG CATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTG CATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAG CGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGTG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0312 a0001c0012t0001g0312	1	330	0.0030	-578	c.331 others(19): Show c.3312+1938_3313-1477del		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMARCB1_chr22_23781966_23843009	23809214	GTTAATCT others(571): Show GTTAATCTAGAATCCTGTACCCAGTGACAATATTGTTCAGGAATGAACGA TATTGGACATTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTCTGCTCTTG TTGCCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTCACCACAACCTCTA CCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGA TTACAGGCATGTGCCACCATACCCGGTTAATTTTTGTATTTTTAGTAGAG AGGGGTTTCTCCATGTTGGTCAGGCTGGCCTTGAACTCCCCACCTCAGGT GATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGTGCTCGGCCAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGTTCCGCCCGCCTTG GCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCGAA TGATGGTAGATTTCTCATGAGAAACTGGAGGCTAGAAGAAGTGGCATGAT ATTTTTCAAGTACTGAAAGAAAAGAACTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0263 a0001c0002t0003g0263	1	362	0.0028	-578	c.628 others(17): Show c.628+5856_628+6433del		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SPATC1L_chr21_46156160_46189459	46169551	TCCTGCTC others(571): Show TCCTGCTCTGTGTACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGT GAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAG GAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCT CTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGG GGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCC TGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAA CATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAG CCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTTTG TGAGCATCCTCTGTGGATGGGGAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(17): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0017 a0002c0002 a0010c0017	a0002c0002t0003 a0002c0002t0022 a0002c0002t0023 others(1): Show a0002c0002t0003 a0002c0002t0022 a0002c0002t0023 a0010c0017t0007	a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0046 others(11): Show a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0046 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0022g0045 a0002c0002t0023g0048 a0010c0017t0007g0039	20	209	0.0957	-578	c.194 others(16): Show c.194-1471_194-894del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4						chr21	TogoVar
TNK2_chr3_195858364_195913551	195874801	TCCCCTCG others(571): Show TCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGA TGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCT CGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAG GCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAA GAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACT CCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACACGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0337 a0001c0001t0001g0264 a0001c0001t0001g0337	2	334	0.0060	-578	c.125 others(19): Show c.1256+2874_1257-2332del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
ASMT_chrX_1610059_1648081	1638675	GTCCATCC others(570): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	214	0.0047	-577	c.910 others(17): Show c.910+2133_910+2709del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639498	GTCCATCC others(570): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18954.hp1 NA18980.hp1 others(2): Show NA18950.hp1 NA18954.hp1 NA18980.hp1 NA19011.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0002g0145 a0001c0003t0001g0032	5	205	0.0244	-577	c.910 others(17): Show c.910+2971_911-2696del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL24A1_chr1_85724233_86161772	85741162	AAGACTTA others(570): Show AAGACTTATCTTGTTCATTATACTTGCAGATTTAAATTCTACTTCTTTTC TCTCTTTTGAGTCTGCTTTCGTTGTCTGCTGTTTCTACTAGTTCTCATTC ATGGTGTTGTGTCAACTTGTGTGTTTGGTTGTTGATTGTGTGCTGGGCAC TGCATTTTTGAAATTATTTGTGGAAATAGTTTGAGTTCTAGGAAAATGTT ATCTTTTATAGAAGATTTTTGTTTGTTTCTGACAGTATGTGGGAGTTCCA GCAGTTTGGAACCATTTTAATACAAGTTCAAAGTTTGGGATTTTCTGAGC TATCCAGATGATGTGAAGCAAAGCTACAGTCTGTATGAATGTTCGTTTTC TTCCAGTTTATCTTTACTACTAGAATGCAGGCCTTTGAAAGTCTAAGTCC TCACCTTTGGTGGGCCACAGATTCTAACTTTTGACCCCTACCTCCTGAAG CCACCAAGCTTCTCAACATACTGGGGGCAAAAGTAGCTCCAAATGTTGGG TTCACTTTCTGCTGTCTCCTTTAAAGTCTCAGCTTGAAAGTTCATTGCTG TTTGTTATTTATTTTATGCTTTTAACTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0002 a0002c0027t0002	a0002c0027t0002g0078 a0002c0027t0002g0078	1	236	0.0042	-577	c.467 others(19): Show c.4672+2927_4672+3503del		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	57/59						chr1	TogoVar
ERICH1_chr8_659200_736224	675278	ACGCGGCG others(570): Show ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	340	0.0029	-577	c.305 others(17): Show c.305-1808_305-1232del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
GABRG2_chr5_162062773_162160526	162116288	ATATAAGT others(570): Show ATATAAGTATGGTAGAGTCAGTCTGTATTGGTCAGCTTAATCTAGACAAT GCTATGGTAACAAATAACCCTCAAAATCTCAGTGGATTAAAGTAAGAACA ATCTCAATTGTTCTACCTCCAGTGTTTCTTTATTCTGTGGTATATCATTC TCATAGCCAAAAGGGGAAATAATAGAAGAGTAAAATTGTCCTTAAAACCT CTGCTTTGTGGGTCTTAAGTAATTTTGACTCACATTCTACTGACCAAAGC AAATCCCAAGAACAAGCCTGATGTCCATGGAATAAGATGCACAATGCTTT CACACAAAGGGGCACCAGGGAAGGCCTCTATAGGGATGGACTTTGTAGGC AGGGGAAGCAAATATCTGGATTACAAAACTGTCACCAACAATTAACAATA GTATAATCCTTTATACTATACATGACTCACCTACCTGGCCATGTCGGAGG GGCCCAGTCACCAGATCTCATGGAGTCTTCTCTAGAAGTAGTGGGGCAGG CAATACTCTGTGACATTTAATTCTGCAATATGGGACCATAACTTTGACAA AGACCTTAGGGAGGTTGAAAGGAATTCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	326	0.0031	-577	c.769 others(19): Show c.769+12265_769+12841del		GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
MYT1L_chr2_1784113_2336275	2034712	ACAATCTC others(570): Show ACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGG TGCAGAAGAGAGCTCCTAACTTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0035 a0001c0004t0007g0035	1	102	0.0098	-577	c.-15 others(21): Show c.-158+18689_-158+19265del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(570): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCAC AGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	205	0.0049	-577	c.981 others(17): Show c.981+1777_981+2353del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SDHA_chr5_213320_262082	261265	CAGCATTA others(570): Show CAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGA GCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTC CGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCAT TACCGTGTGAGCTCCGCCCTCCCGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	98	0.0102	-577	c.48 others(11): Show c.4846_*5422del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4184		chr5	TogoVar
SMARCB1_chr22_23781966_23843009	23808575	ATGAGAAA others(570): Show ATGAGAAACTGGACGCTAGAGCAAGTGGCAGGATATTTTTCAAGTACTGA AAGAAAAGAACTGTTAATCTAGAATCCTGTACCCAGTGACAGTATTGTTC AGGAATGAACGATATTGGACATTCTTTTTTTTTTTTTTTTGAGACGGAGT TTCCGCTCTTGTTGCCCAGGCTGGAGTGCAGTTGCACAGTCTCAGCTCAT CACAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGGATTACAGGCATGTGCCACCATACCCGGTTAATTTTTGTAT TTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGCCTTGAACTCC CACCTCAGGTGATCCACCCACCCTCGGCCTCCTAAAGTGCTGGGATTACA GGCGTGAGCCACTGTGCTCGGCCAATTTTTTGTATTTTTTAGTAGAGATG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGC GCCCAGCCAAATGATGGTAGATTTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0294 a0001c0001t0022g0295 a0001c0001t0022g0294 a0001c0001t0022g0295	2	362	0.0055	-577	c.628 others(17): Show c.628+5244_628+5820del		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF516_chr18_76352682_76500242	76393408	TCAGGTGG others(570): Show TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	339	0.0029	-577	c.181 others(21): Show c.1811-13682_1811-13106del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393444	CGGGAAGG others(570): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0062 a0018c0023t0062	a0018c0023t0062g0104 a0018c0023t0062g0104	1	338	0.0030	-577	c.181 others(21): Show c.1811-13718_1811-13142del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ASMT_chrX_1610059_1648081	1640395	GTCCTGTG others(569): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18980.hp1 NA19003.hp2 NA18949.hp2 NA18980.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0032 a0002c0002t0001g0129 a0002c0002t0001g0130 a0001c0003t0001g0032 a0002c0002t0001g0129 a0002c0002t0001g0130	3	219	0.0137	-576	c.911 others(17): Show c.911-2398_911-1823del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640942	GTGTGTGA others(569): Show GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGT GGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGA GGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACAGCCGCTCTGTG TGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GGTTCATGGGGACGTGAGCACAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19030.hp2 HG03486.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0002 a0003c0007t0001 a0001c0003t0002 a0003c0007t0001	a0001c0003t0002g0133 a0003c0007t0001g0011 a0001c0003t0002g0133 a0003c0007t0001g0011	2	220	0.0091	-576	c.911 others(17): Show c.911-1854_911-1279del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CARD11_chr7_2901142_3048867	3029426	GCTAATGC others(569): Show GCTAATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATGGGTGCAGC AAACCACCATGGCACATGTATACCTATGTAACGAACCTGCACGTCCTGCA AATGTACCCCAGAACTTAGAGTGAAAAAAAAAAAAAAAGAAAGAAAGAAA AAAAAAAGAATGCTGAGATCCGGTTGGGCGCGGTGGCTCAGGCCTGTAAT CCCAGCACTTTGGGGGCGGAGGTGGGCGGATCATGAGGTCGGAAGATCTA GACCATCCTGGCCAACACGGTGAAACTCCGTCTCTACTAAAAAAAAAAAA ATACAAAAAATTCGCCTGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCCAGGAGGCAGAGCTTGC AGTGAGCGAGATGGCGCCACTGCACTCCAGCCTGGGAGACACAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGAATGCTGAGATCTGTGGAC ACAGGGAGGGGAATATTACACAGTGGGCCCTGTCGGGGGTTGGGGGGCAA GGGGAGGGAGAGCATTAGGACAAATAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0258 a0001c0004t0002g0258	1	320	0.0031	-576	c.-12 others(21): Show c.-126+13665_-126+14240del		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
DLGAP2_chr8_732628_1713476	1282269	CCATCCGG others(569): Show CCATCCGGACATGGTGTGACCTGAACCCAGCGCCCTGAACCATCCGGACG TGGTGTGACCTGAACCCAGCGCCCTGAACCATCTGGACGTGGTGTGACCT GAACCCAGCACCTGAAGCATCCAGACGTGGTGTGACCTGAACCCAGCGCC CTGAACCATCCGGACATGGTGTGACCTGAACCCAGCACATGAACCATCTG GACATGGTGTGACCTGAACCCAGCACGTGAACCATCCAGACGTGGTGTGA CCTGAACCCAGCACCCTGAACCATCCGGACATGGTGTGACCTGAACCCAG CACATGAACCATCTGGACATGGTGTGACCTGAACCCAGCACGTGAACCAT CCAGACGTGGTGTGACCTGAACCCAGCGCATGAACCATCCAGACGTGGTG TGACCTGAACCCAGCGCATGAACCATCCAGACGTGGTGTGACCTGAACCC AGCGCCCTGAACCATCTGGACGTGGTGTGACCTGAATCCAGCCCCCTGAA CCATACGGACATGGTGTGACCTGAGCCCAGCACGTGAACCATCTGGACAT GGTGTGACCTGAACCCAGCACGTGAAG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-576	c.106 others(19): Show c.106+23396_106+23971del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	167083	CTTCTTGA others(569): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTGATGGTCTGACACTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	335	0.0030	-576	c.454 others(17): Show c.454-3455_454-2880del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167165	GATGGTCT others(569): Show GATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02572.hp2 HG02738.hp2 others(2): Show HG01516.hp2 HG02572.hp2 HG02738.hp2 HG02896.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0072 a0001c0002t0003g0110 others(2): Show a0001c0002t0003g0067 a0001c0002t0003g0072 a0001c0002t0003g0110 a0001c0002t0003g0112 a0001c0002t0003g0113	5	335	0.0149	-576	c.454 others(17): Show c.454-3537_454-2962del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167467	CTTCTTGA others(569): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01070.hp2 others(35): Show HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01884.hp1 HG02004.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02486.hp2 HG02559.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18982.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19079.hp2 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 others(3): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0038 a0001c0002t0049 a0001c0002t0061	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0036 others(31): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0036 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0004g0004 a0001c0002t0004g0070 a0001c0002t0004g0075 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0094 a0001c0002t0004g0096 a0001c0002t0004g0215 a0001c0002t0004g0264 a0001c0002t0009g0069 a0001c0002t0009g0088 a0001c0002t0038g0074 a0001c0002t0049g0258 a0001c0002t0061g0078	38	333	0.1141	-576	c.454 others(17): Show c.454-3839_454-3264del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
ERICH1_chr8_659200_736224	675734	TGAGGACA others(569): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	328	0.0030	-576	c.305 others(17): Show c.305-2263_305-1688del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241806928	GCCCAGGA others(569): Show GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCC TCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG01496.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0141 a0001c0001t0001g0001 a0002c0002t0002g0141	2	264	0.0076	-576	c.27 others(11): Show c.2763_*3338del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2642		chr2	TogoVar
KRTAP10-7_chr21_44595597_44607174	44600740	GCTGCTGC others(569): Show GCTGCTGCGAGCCCCCCTGCTGCGCCCCGGCCCCCTGCCTGAGCCTGGTC TGCACCCCAGTGAGCTATGTGTCCAGCCCCTGCTGCCGAGTGACCTGTGA GCCCAGCCCCTGCCAATCAGGCTGCACCAGCTCCTGCACGCCCTCGTGCT GCCAGCAGTCTAGCTGCCAGCTGGCTTGCTGTGCCTCCTCCCCCTGCCAG CAGGCCTGCTGCGTGCCCGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGT GTACTGTGTGCCTGTCTGCAGTGGGGATTCTTCATGCTGCCAGCAGTCTA GCTGCCAGTCAGCTTGCTGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGT GTGCCCATCTGCTGCAAGCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTG CCAGCAGTCTAGCTGTGTGAGCTGTGTGTCCAGTCCCTGCTGCCAGGCGG TCTGTGAGCCCAGCCCCTGCCAATCAGGCTGCATCAGCTCCTGCACGCCC TCGTGCTGCCAGCAGTCTAGCTGCAAGCCGGCTTGCTGCACCTCCTCCCC TTGCCAGCAGGCCTGCTGTGTGCCTGT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03579.hp1 HG03579.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0000 a0011c0015t0002g0000	1	444	0.0023	-576	c.127 others(7): Show c.127_702del	p.Glu others(12): Show p.Glu43_Cys234del	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding	1/1	152/1578	127/1113	43/370		INFO_REALIGN_3_PRIME	chr21	TogoVar
MGA_chr15_41655405_41774940	41657024	TCTGCCTC others(569): Show TCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGC CCAGCCCAGAAAGTCTTAAAAGTTCCTCTTTGGGTACATTATTAGCTCCT TGAAGGCAGATATCTTGCCATTTTTAATTCCTTAAATCGTTAATTTTTAA TTCCTTAATTCCTTCATTACAGATATTGGTGGCAATCATACTTTGCCCCC CAGCATGACTTGATTTCAGTTGTAGTACTAAATGGTGGGCAAGGATGGAG TTGTCTATGATTCTCTTTTTACCCTCTGCCTAGGACCTGAATTTTCAGGT TGGCTAGTGAAGGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GATGGAGTCTTGCTCTGTCGTTCAGGCTGGAGTGCGGTGGCGCGATCTCG GCTCACTGCAACCTCCACCTCCCTTGTTCAAGCAATTCCCTTGCCTTAGC CTCCCGTGTGGCTGGGATTATGGGCGCACGCCACCATGCCCGGCTAATTT TTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTC TTGAACCCCTGACCTTAGGCAATCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0026 a0026	a0026c0014 a0026c0014	a0026c0014t0001 a0026c0014t0001	a0026c0014t0001g0185 a0026c0014t0001g0185	1	290	0.0034	-576	c.-35 others(11): Show c.-3568_-2993del		MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding					3380		chr15	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(569): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATCGCATTTTATTAAATATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	190	0.0053	-576	c.315 others(17): Show c.315+5639_315+6214del		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195783911	GACCTGTG others(569): Show GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGA CGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTG TAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTG GATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTGACCTGTGGA TACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATG CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCC GAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGA GGAAAGGCCGGTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGG AAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAA GCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGA GCTGGTGACAGGAAGAGGGGTGGTGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02976.hp1 NA18906.hp2 HG01884.hp1 HG02976.hp1 NA18906.hp2	a0047 a0080 a0102 a0047 a0080 a0102	a0047c0140 a0080c0141 a0102c0136 a0047c0140 a0080c0141 a0102c0136	a0047c0140t0005 a0080c0141t0002 a0102c0136t0005 a0047c0140t0005 a0080c0141t0002 a0102c0136t0005	a0047c0140t0005g0226 a0080c0141t0002g0219 a0102c0136t0005g0240 a0047c0140t0005g0226 a0080c0141t0002g0219 a0102c0136t0005g0240	3	227	0.0132	-576	c.709 others(9): Show c.7093_7668del	p.Asp others(15): Show p.Asp2365_Gly2556del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7780/16756	7093/16239	2365/5412			chr3	TogoVar
NEU4_chr2_241804193_241822413	241806928	GCCCAGGA others(569): Show GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCC TCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03041.hp1 NA18522.hp1 HG01496.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0011 a0001c0001t0003g0094 a0001c0002t0001g0120 a0001c0001t0003g0011 a0001c0001t0003g0094 a0001c0002t0001g0120	3	282	0.0106	-576	c.-23 others(11): Show c.-2349_-1774del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2264		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(569): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 NA18942.hp1 others(1): Show HG00609.hp2 HG01106.hp1 NA18942.hp1 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0081 a0002c0002t0002g0030 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0081 a0002c0002t0002g0030 a0002c0002t0002g0175	4	222	0.0180	-576	c.981 others(17): Show c.981+1777_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PPARD_chr6_35337558_35433178	35384453	GCCCGGCC others(569): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGGCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGGCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCGGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGAGGGGTCAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01884.hp1 others(16): Show HG00738.hp1 HG01074.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034	a0001c0002t0002g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 others(16): Show a0001c0002t0002g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0062 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0011g0011 a0001c0002t0011g0012 a0001c0002t0013g0006 a0001c0002t0013g0007 a0001c0002t0013g0008 a0001c0002t0029g0063 a0001c0002t0031g0055 a0001c0002t0032g0061 a0001c0002t0034g0060	19	236	0.0805	-576	c.-10 others(21): Show c.-101-26507_-101-25932del		PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
RPTOR_chr17_80539838_80971368	80744271	CCCTGGTT others(569): Show CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0105 a0001c0003t0014g0105	1	174	0.0057	-576	c.655 others(17): Show c.655-9733_655-9158del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280964	CCACCCTC others(569): Show CCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCA CCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCC TCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCC TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCC TTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCA GCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCTCCCTCAGC CACCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTC AGCCACCCTCCTGTCACCTCCCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0079 a0003c0001t0001g0079	1	267	0.0037	-576	c.484 others(18): Show c.484+9506_484+10081del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SDHA_chr5_213320_262082	258890	CTCCGCCA others(569): Show CTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA GAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCC CCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGA CAGAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(20): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG01192.hp1 HG01934.hp2 HG02056.hp1 HG02071.hp2 HG03669.hp1 NA18940.hp1 NA18944.hp1 NA18964.hp1 NA18971.hp2 NA18978.hp2 NA18988.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp1 NA19056.hp2 NA19066.hp1 NA19077.hp1 NA19078.hp1 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0045 a0001c0011t0001g0001	23	262	0.0878	-576	c.24 others(11): Show c.2471_*3046del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					1809		chr5	TogoVar
SDHA_chr5_213320_262082	260430	CCAGAGCA others(569): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC CGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAG CATTACCGTGTGAGCTCCGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	164	0.0061	-576	c.40 others(11): Show c.4011_*4586del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3349		chr5	TogoVar
SETX_chr9_132256356_132359986	132325248	CGGGAGGC others(569): Show CGGGAGGCTGAGGCAGGAGAACAGCCTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCGTCTCAAAAAAAAGAAAAAAGAAAAAAGAAAGAAAGAAACTGGGAAGT CTGACGTGTAGGGAAATTTAGGATTCATTACTTTGTGTTCAATGTAATTC ACCCTTTGCCACCTCCTCAAGAAAACTACAGCAGAGGTCTCTTACTTAAA AACAAAACAAATGCACATGGGAAACTATCTCCTCTGAGAAGTCTTCCTTT ACCCGTGCGTCAATAAACATTTCCTTCTGTGTTACCTCTGCACTTGGTAT ATTAGCACCCTGAGTTGTGTCTATCAGCTCCAAGGAGCAGAGTTTCCAGC CAGGCACAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGC TGGTGGATCACCTGAGGTCAGAATCAGAAGTTCAAGACCAGCCTGACCAA CATGGTGAAACCCCTTCTCTACTAAAAATACAAAATTAGTGAGGCCTGGT GGCGCAGGCCTGTAATCTCAGCTACTT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19082.hp1 NA18989.hp1 NA19082.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0107 a0005c0004t0002g0108 a0005c0004t0002g0107 a0005c0004t0002g0108	2	360	0.0056	-576	c.527 others(18): Show c.5274+500_5274+1075del		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	10/25						chr9	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(569): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0130 a0002c0005t0002g0130	1	129	0.0078	-576	c.532 others(19): Show c.532-45104_532-44529del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975488	CGGCCCAG others(569): Show CGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGC CTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT AGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAG GGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGG AAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAA AGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAG CCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCC ATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCAT CGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCG TCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTC TCTAGCCTAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0060 a0001c0006t0001g0060	1	122	0.0082	-576	c.532 others(19): Show c.532-46127_532-45552del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976021	TAGGGAAA others(569): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	110	0.0091	-576	c.532 others(19): Show c.532-46660_532-46085del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976209	GGCCCAGG others(569): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	116	0.0086	-576	c.532 others(19): Show c.532-46848_532-46273del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
THEG_chr19_356747_381026	360560	ATCAGCTG others(569): Show ATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGG CCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCT GACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCT GTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTG GTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGG AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCAT CAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGCCCCTCAGCAGGAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0219 a0001c0001t0041g0219	1	339	0.0029	-576	c.10 others(11): Show c.1064_*1639del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1186		chr19	TogoVar
TSPEAR_chr21_44492893_44716572	44600740	GCTGCTGC others(569): Show GCTGCTGCGAGCCCCCCTGCTGCGCCCCGGCCCCCTGCCTGAGCCTGGTC TGCACCCCAGTGAGCTATGTGTCCAGCCCCTGCTGCCGAGTGACCTGTGA GCCCAGCCCCTGCCAATCAGGCTGCACCAGCTCCTGCACGCCCTCGTGCT GCCAGCAGTCTAGCTGCCAGCTGGCTTGCTGTGCCTCCTCCCCCTGCCAG CAGGCCTGCTGCGTGCCCGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGT GTACTGTGTGCCTGTCTGCAGTGGGGATTCTTCATGCTGCCAGCAGTCTA GCTGCCAGTCAGCTTGCTGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGT GTGCCCATCTGCTGCAAGCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTG CCAGCAGTCTAGCTGTGTGAGCTGTGTGTCCAGTCCCTGCTGCCAGGCGG TCTGTGAGCCCAGCCCCTGCCAATCAGGCTGCATCAGCTCCTGCACGCCC TCGTGCTGCCAGCAGTCTAGCTGCAAGCCGGCTTGCTGCACCTCCTCCCC TTGCCAGCAGGCCTGCTGTGTGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	292	0.0034	-576	c.83- others(17): Show c.83-33311_83-32736del		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TWIST2_chr2_238843085_238915534	238880606	TGTTAGTA others(569): Show TGTTAGTATTTATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTC AGTATTAGTATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAG CATTAGTATTAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTT AATATTAGCATTAGTGTCAGTGTTAGTATTAGTGTTAGTGTTAGTATTTA TTAGTATTAGTGTTAGTATTTATTGGTATTAGTGTTAGTACTAGTATTTA TTAGTGTTAGTGTTATTGTTAGTGTTAGTGTTGGTATTTATTATTATTAG TGTTAGTGTCAGTATTAGTGTTAGTATTTATTTGTGTTAGCATTAGTATT AATGTTAGTGTTAGTATTTATTAGTGTTAGTGTTGGTAATATTTATTAGC ATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTTACTATTTATTAGTGT CAGTGTTAGTGTTAGTGTCAGCATTAGTATTAGTGTGTTAGTATTGGTAT TAGTGTTAGTGTTAGTATTTATTAGTATTAGTATTACTGTTAGTATTAGT ATTAGTGTTATGTTAGTATTAGTGTTA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	336	0.0030	-576	c.36 others(19): Show c.36-29233_*36-28658del		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar

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