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
DLGAP2_chr8_732628_1713476	1015900	CGATGCCT others(188): Show CGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-195	c.73+ others(19): Show c.73+107936_73+108130del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1248009	GAGTCTGA others(188): Show GAGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGTG GAGTGATGGTCCATGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGG AGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGTGG AGTGATGGTCCACATCGGTGGCCGGGAAGACCTTTGAGATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	40	0.0250	-195	c.74- others(17): Show c.74-10841_74-10647del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DNAJC5_chr20_63890126_63941011	63919677	GACATGTG others(188): Show GACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACAGGAC AGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCC CGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCC AGGGCCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00597.hp2 others(62): Show HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03654.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0052	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(57): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0184 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0004g0079 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0102 a0001c0001t0004g0216 a0001c0001t0004g0224 a0001c0001t0015g0020 a0001c0001t0015g0077 a0001c0001t0016g0010 a0001c0001t0016g0296 a0001c0001t0024g0179 a0001c0001t0028g0009 a0001c0001t0032g0183 a0001c0001t0033g0023 a0001c0001t0041g0080 a0001c0001t0042g0021 a0001c0001t0052g0078	65	365	0.1781	-195	c.-11 others(17): Show c.-11-8613_-11-8419del		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
ERC1_chr12_986223_1500931	1087264	ATTGTTGT others(188): Show ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show HG01261.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0081 a0001c0001t0086 a0001c0001t0027 a0001c0001t0081 a0001c0001t0086	a0001c0001t0027g0094 a0001c0001t0027g0103 a0001c0001t0081g0102 others(1): Show a0001c0001t0027g0094 a0001c0001t0027g0103 a0001c0001t0081g0102 a0001c0001t0086g0095	4	145	0.0276	-195	c.108 others(19): Show c.1086+3802_1086+3996del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914568	TGTCTCCG others(188): Show TGTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTT CCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGT CTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	198	0.0051	-195	c.-13 others(17): Show c.-13-1831_-13-1637del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
GAK_chr4_844277_937316	927160	TCCGCACT others(188): Show TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	388	0.0026	-195	c.145 others(17): Show c.145+4688_145+4882del		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	TCCCCCTC others(188): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	240	0.0042	-195	c.10 others(11): Show c.1049_*1243del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807217	CTCCCTCC others(188): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA18947.hp2 HG01243.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0159 a0002c0002t0002g0109 a0001c0001t0002g0159 a0002c0002t0002g0109	2	297	0.0067	-195	c.30 others(11): Show c.3052_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2931		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231903	AGAGGAGA others(188): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01099.hp2 others(4): Show HG00423.hp1 HG00639.hp1 HG01099.hp2 HG01192.hp1 NA18747.hp1 NA18961.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0002 a0001c0001t0001 a0001c0002t0001 a0001c0012t0002	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0090 a0001c0002t0001g0022 a0001c0002t0001g0163 a0001c0012t0002g0183	7	180	0.0389	-195	c.107 others(21): Show c.1077+15812_1077+16006del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GNG5_chr1_84493325_84511581	84510760	GTGTCTAT others(188): Show GTGTCTATCAACAGATGAATGAATGAGTAAAGAAAATGTGGTACAAATAA ACAATGGAGTACCGTTCCGCCATAAAAAAGAATGAGATCATCTCATTTGC AACAACATGGATAGAACTGGATGTCATTATGTTAAGTGAAAAAGCCAGAC ACAGAAACACAAACCTCACATGTTCTCACTTATTTGGCAGTAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	-195	c.-47 others(11): Show c.-4730_-4536del		GNG5	ENSG00000174021.12	transcript	ENST00000370645.9	protein_coding					4180		chr1	TogoVar
LGR5_chr12_71434798_71591310	71563926	ATGTACAC others(188): Show ATGTACACACACACCGTGTATATATGCATATATACGTATCTGTACACACG CACTGTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATA TATGCATATATACGTATCTGTATACACGCACCGTGTATATATGCATATAT ACGTATCTGTACACACGCACCGTGTATATATGCATATATACGTATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0001 a0008c0014t0011 a0001c0002t0001 a0008c0014t0011	a0001c0002t0001g0196 a0008c0014t0011g0200 a0001c0002t0001g0196 a0008c0014t0011g0200	2	190	0.0105	-195	c.857 others(17): Show c.857+2084_858-2274del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(188): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02300.hp1 HG03492.hp1 others(1): Show HG00741.hp1 HG02300.hp1 HG03492.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0001t0004g0173 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0001t0004g0173 a0002c0003t0001g0125	4	36	0.1111	-195	c.857 others(17): Show c.857+2127_858-2231del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LHPP_chr10_124456823_124619141	124506675	GGGTAGGG others(188): Show GGGTAGGGAAGATTTCAGGTTGGCGGGTAGGGAAGATTTCAAGTGGGGTG GGTAAGGAGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGGGGTGG GTAAGGAGGATTTCAGGTTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTAGGGGGTAGGGAGGATTTCAGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04115.hp1 HG01496.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0210 a0001c0001t0001g0148 a0001c0001t0001g0210	2	258	0.0078	-195	c.624 others(17): Show c.624+8553_624+8747del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506993	GTAGGGAG others(188): Show GTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGG TAGGGAGGATTTCAGGTGTAGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAG AGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18947.hp2 HG03704.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0192 a0001c0001t0012g0025 a0001c0001t0001g0192 a0001c0001t0012g0025	2	235	0.0085	-195	c.624 others(17): Show c.624+8869_624+9063del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MPPED1_chr22_43407014_43512848	43496682	GTGGTGGT others(188): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGA AGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp2 others(54): Show HG00099.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18968.hp2 NA18981.hp2 NA18984.hp1 NA18999.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0024 a0001c0004t0001 a0001c0004t0012 a0001c0005t0001 a0001c0005t0004 a0001c0006t0005 a0001c0007t0002 a0001c0007t0008 a0001c0010t0001	a0001c0001t0001g0043 a0001c0001t0001g0115 a0001c0001t0001g0121 others(54): Show a0001c0001t0001g0043 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0243 a0001c0001t0004g0244 a0001c0001t0005g0225 a0001c0001t0006g0025 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0007g0123 a0001c0001t0013g0116 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0132 a0001c0002t0001g0165 a0001c0002t0003g0061 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0080 a0001c0002t0004g0044 a0001c0002t0005g0246 a0001c0002t0006g0245 a0001c0002t0013g0074 a0001c0003t0003g0167 a0001c0003t0006g0001 a0001c0003t0006g0003 a0001c0003t0006g0004 a0001c0003t0007g0240 a0001c0003t0024g0006 a0001c0004t0001g0113 a0001c0004t0012g0155 a0001c0005t0001g0081 a0001c0005t0004g0015 a0001c0006t0005g0035 a0001c0007t0002g0201 a0001c0007t0002g0207 a0001c0007t0008g0068 a0001c0010t0001g0014 a0001c0010t0001g0019	57	244	0.2336	-195	c.633 others(17): Show c.633-1540_633-1346del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233790479	TCCTCCCT others(188): Show TCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGCCTTACTTA CTCTTTCCCCTCCCTCCCCCTTTCTTTTTCTCCTTCCTTCCTTCCTTCCT CCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01069.hp2 others(40): Show HG00323.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01993.hp1 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18962.hp1 NA18994.hp2 NA19001.hp2 NA19043.hp1 NA19081.hp1 NA19086.hp1 NA20805.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0012 a0013 a0015 a0022 a0029 a0031 a0032 a0053 a0065 a0068 a0072 a0077 a0087 a0088 a0089 a0090 a0092 a0102 a0111 a0115 a0121	a0001c0001 a0001c0004 a0001c0027 others(27): Show a0001c0001 a0001c0004 a0001c0027 a0001c0094 a0001c0096 a0001c0108 a0002c0003 a0003c0038 a0004c0120 a0012c0136 a0013c0019 a0015c0028 a0022c0104 a0029c0077 a0031c0041 a0032c0083 a0053c0082 a0065c0065 a0068c0151 a0072c0121 a0077c0081 a0087c0125 a0088c0097 a0089c0114 a0090c0157 a0092c0150 a0102c0132 a0111c0147 a0115c0107 a0121c0148	a0001c0001t0001 a0001c0004t0001 a0001c0027t0001 others(27): Show a0001c0001t0001 a0001c0004t0001 a0001c0027t0001 a0001c0094t0001 a0001c0096t0001 a0001c0108t0001 a0002c0003t0001 a0003c0038t0001 a0004c0120t0001 a0012c0136t0001 a0013c0019t0001 a0015c0028t0001 a0022c0104t0001 a0029c0077t0001 a0031c0041t0001 a0032c0083t0001 a0053c0082t0001 a0065c0065t0001 a0068c0151t0001 a0072c0121t0001 a0077c0081t0001 a0087c0125t0001 a0088c0097t0001 a0089c0114t0001 a0090c0157t0001 a0092c0150t0001 a0102c0132t0001 a0111c0147t0001 a0115c0107t0001 a0121c0148t0001	a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0004t0001g0118 others(40): Show a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0004t0001g0118 a0001c0004t0001g0132 a0001c0004t0001g0156 a0001c0027t0001g0125 a0001c0094t0001g0139 a0001c0096t0001g0124 a0001c0108t0001g0117 a0002c0003t0001g0109 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0126 a0002c0003t0001g0136 a0002c0003t0001g0140 a0003c0038t0001g0354 a0004c0120t0001g0362 a0012c0136t0001g0137 a0013c0019t0001g0116 a0013c0019t0001g0119 a0015c0028t0001g0102 a0015c0028t0001g0152 a0015c0028t0001g0153 a0022c0104t0001g0037 a0029c0077t0001g0146 a0031c0041t0001g0122 a0031c0041t0001g0130 a0032c0083t0001g0361 a0053c0082t0001g0170 a0065c0065t0001g0364 a0068c0151t0001g0036 a0072c0121t0001g0363 a0077c0081t0001g0357 a0087c0125t0001g0035 a0088c0097t0001g0127 a0089c0114t0001g0041 a0090c0157t0001g0366 a0092c0150t0001g0131 a0102c0132t0001g0138 a0111c0147t0001g0141 a0115c0107t0001g0174 a0121c0148t0001g0134	43	351	0.1225	-195	c.571 others(15): Show c.571+469_571+663del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195775382	GTACCTTC others(188): Show GTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02451.hp2 others(6): Show HG01884.hp1 HG01975.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 NA18906.hp2	a0047 a0050 a0065 others(6): Show a0047 a0050 a0065 a0073 a0074 a0080 a0084 a0090 a0102	a0047c0140 a0050c0143 a0065c0142 others(6): Show a0047c0140 a0050c0143 a0065c0142 a0073c0139 a0074c0137 a0080c0141 a0084c0138 a0090c0097 a0102c0136	a0047c0140t0005 a0050c0143t0004 a0065c0142t0004 others(6): Show a0047c0140t0005 a0050c0143t0004 a0065c0142t0004 a0073c0139t0005 a0074c0137t0005 a0080c0141t0002 a0084c0138t0005 a0090c0097t0003 a0102c0136t0005	a0047c0140t0005g0226 a0050c0143t0004g0224 a0065c0142t0004g0223 others(6): Show a0047c0140t0005g0226 a0050c0143t0004g0224 a0065c0142t0004g0223 a0073c0139t0005g0225 a0074c0137t0005g0227 a0080c0141t0002g0219 a0084c0138t0005g0228 a0090c0097t0003g0067 a0102c0136t0005g0240	9	196	0.0459	-195	c.129 others(21): Show c.12944-1272_12944-1078del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775635	CCATACCT others(188): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0144 a0003c0144	a0003c0144t0003 a0003c0144t0003	a0003c0144t0003g0210 a0003c0144t0003g0210	1	203	0.0049	-195	c.129 others(21): Show c.12944-1525_12944-1331del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MYO3B_chr2_170173147_170660167	170649042	GTATATTA others(188): Show GTATATTATATAAAATAATATATAATGTATATTATATATAAAATAATATA TAATGTATATTATATATAAAATAATATATAATGTATATAAAATAATATAT AATATATTATATATAAAATAATATATAATATATTATATATAAAATAATAT ATATTATATATAAAATAATATATAATATATTATATATAAAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0086 a0002c0018t0006g0086	1	154	0.0065	-195	c.373 others(19): Show c.3734-2574_3734-2380del		MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688207	TATGTGTG others(188): Show TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATA TTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATA TATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18980.hp1 HG06807.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0215 a0001c0001t0001g0170 a0001c0001t0001g0215	2	350	0.0057	-195	c.37 others(11): Show c.3710_*3904del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2844		chr15	TogoVar
NDST3_chr4_118029486_118263634	118066679	TAACATGT others(188): Show TAACATGTTATATATTATATATACATTATATATAACATGTTATATATTAT ATATACATTATATATAACATGTTATATATTATATATACATTATATATAAC ATGTTATATATTATATATACATTATATATAACATGTTATATATTATATAT ACATTATATATAACATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00735.hp2 others(19): Show HG00099.hp1 HG00597.hp1 HG00735.hp2 HG01169.hp1 HG01975.hp1 HG01978.hp2 HG02602.hp2 HG02809.hp2 HG03098.hp1 HG03209.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18952.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18986.hp1 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0013t0003	a0001c0001t0001g0130 a0001c0002t0001g0087 a0001c0002t0001g0097 others(19): Show a0001c0001t0001g0130 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0194 a0001c0002t0001g0210 a0001c0004t0001g0013 a0001c0013t0003g0137	22	213	0.1033	-195	c.981 others(19): Show c.981+11790_981+11984del		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NEU4_chr2_241804193_241822413	241805214	TCCCCCTC others(188): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA18951.hp1 HG01257.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0080 a0001c0002t0001g0065 a0001c0001t0003g0080 a0001c0002t0001g0065	2	246	0.0081	-195	c.-40 others(11): Show c.-4063_-3869del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807217	CTCCCTCC others(188): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02300.hp2 others(3): Show HG00639.hp1 HG01981.hp2 HG02300.hp2 HG02559.hp1 NA18612.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0004t0001g0073 a0001c0004t0001g0158 a0002c0003t0002g0147	6	302	0.0199	-195	c.-20 others(11): Show c.-2060_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1975		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587066	TACATATA others(188): Show TACATATATATACATATATATACATATATATACACATATATATACATATA TATACATATATATACATATATACACATATATATACATATATACACATATA TACACATATATATACACATATATATACACATATATATACACATATATATA TACATATATATACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0193 a0001c0001t0001g0212	2	308	0.0065	-195	c.184 others(19): Show c.1844+1782_1844+1976del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587067	ACATATAT others(188): Show ACATATATATACATATATATACATATATATACACATATATATACATATAT ATACATATATATACATATATACACATATATATACATATATACACATATAT ACACATATATATACACATATATATACACATATATATACACATATATATAT ACATATATATACATATATATATACATACATATATATATATACACAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01257.hp2 HG02559.hp1 others(2): Show HG01069.hp2 HG01257.hp2 HG02559.hp1 HG02622.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0260 a0001c0001t0001g0266 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0349 a0001c0001t0001g0354	5	361	0.0139	-195	c.184 others(19): Show c.1844+1781_1844+1975del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587070	TATATATA others(188): Show TATATATACATATATATACATATATATACACATATATATACATATATATA CATATATATACATATATACACATATATATACATATATACACATATATACA CATATATATACACATATATATACACATATATATACACATATATATATACA TATATATACATATATATATACATACATATATATATATACACATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0186 a0001c0001t0001g0194	2	367	0.0054	-195	c.184 others(19): Show c.1844+1778_1844+1972del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NPIPB11_chr16_29376310_29411711	29383194	TATTATCA others(188): Show TATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGA CGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCC CCGCAGATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAG CTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0004 a0016c0017t0002g0293 a0016c0017t0002g0004 a0016c0017t0002g0293	3	426	0.0070	-195	c.154 others(9): Show c.1543_1737del	p.Leu others(13): Show p.Leu515_Asn579del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4484/6369	1543/3486	515/1161			chr16	TogoVar
OPRL1_chr20_64075082_64105633	64090801	AGGTGCCC others(188): Show AGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGG GCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTG GGGCCCAGCTGTGGCAGGGGTGCCCTGGGCACTGATCTGGGGCCCAGCTG TGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0019 a0003c0002t0019	a0003c0002t0019g0022 a0003c0002t0019g0022	1	64	0.0156	-195	c.-18 others(18): Show c.-184-1048_-184-854del		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCYT1A_chr3_196229368_196292726	196271604	CTTTTTTT others(188): Show CTTTTTTTTTTTTTGAGAAAGAGTCTCACTGTGTCACCCTGGCTAGAGTG CAGTGGCACGATCTCGGCTCTCACAGCCATAATCATAGCACACTGTAGCC TCAAACTCCTGAGCTTAAGCAATCCTCCCATCTGAGCCTCCAGAATAGCT AGGACCAGCATAATGTATTTTTTAAATGTCCTTCTCCTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19005.hp2 NA18989.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0096 a0001c0001t0020g0097 a0001c0001t0020g0096 a0001c0001t0020g0097	2	303	0.0066	-195	c.-10 others(17): Show c.-10-1258_-10-1064del		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196271634	GTGTCACC others(188): Show GTGTCACCCTGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCACAGCCAT AATCATAGCACACTGTAGCCTCAAACTCCTGAGCTTAAGCAATCCTCCCA TCTGAGCCTCCAGAATAGCTAGGACCAGCATAATGTATTTTTTAAATGTC CTTCTCCTTCTTTCCTTTTTTTTTTTTTTGAGAAAGAGTCTCACTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02486.hp1 HG02896.hp1 others(5): Show HG01168.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03540.hp2 NA18950.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0052 a0001c0001t0001 a0001c0001t0015 a0001c0001t0052	a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0015g0129 a0001c0001t0015g0130 a0001c0001t0015g0132 a0001c0001t0015g0133 a0001c0001t0052g0131	8	308	0.0260	-195	c.-10 others(17): Show c.-10-1288_-10-1094del		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8						chr3	TogoVar
PFKP_chr10_3062548_3141802	3106196	AGGGAGGC others(188): Show AGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGC GTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(156): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0020 a0001c0022 a0001c0032 a0001c0033 a0001c0050 a0001c0052 a0001c0053 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0064 a0001c0066 a0003c0030 a0004c0051 a0008c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0012t0002 a0001c0012t0004 a0001c0020t0001 a0001c0020t0014 a0001c0022t0001 a0001c0032t0004 a0001c0033t0003 a0001c0050t0005 a0001c0052t0006 a0001c0053t0001 a0001c0055t0005 a0001c0056t0003 a0001c0057t0001 a0001c0058t0009 a0001c0064t0002 a0001c0066t0007 a0003c0030t0003 a0004c0051t0004 a0008c0054t0003	a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0037 others(155): Show a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0224 a0001c0001t0002g0250 a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0345 a0001c0001t0002g0362 a0001c0001t0002g0384 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0035 a0001c0001t0003g0057 a0001c0001t0003g0083 a0001c0001t0003g0134 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0284 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0320 a0001c0001t0003g0340 a0001c0001t0003g0351 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0383 a0001c0001t0003g0391 a0001c0001t0003g0393 a0001c0001t0004g0018 a0001c0001t0004g0046 a0001c0001t0004g0257 a0001c0001t0004g0272 a0001c0001t0004g0328 a0001c0001t0004g0368 a0001c0001t0004g0382 a0001c0001t0006g0025 a0001c0001t0006g0090 a0001c0001t0006g0128 a0001c0001t0006g0130 a0001c0001t0006g0222 a0001c0001t0006g0277 a0001c0001t0006g0311 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0001t0008g0299 a0001c0001t0008g0342 a0001c0002t0002g0377 a0001c0003t0001g0010 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0086 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0001g0116 a0001c0003t0001g0119 a0001c0003t0001g0122 a0001c0003t0001g0124 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0170 a0001c0003t0001g0183 a0001c0003t0001g0191 a0001c0003t0001g0203 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0276 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0310 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0375 a0001c0003t0007g0104 a0001c0003t0007g0151 a0001c0003t0011g0053 a0001c0003t0011g0264 a0001c0003t0011g0285 a0001c0003t0012g0021 a0001c0003t0012g0227 a0001c0008t0001g0268 a0001c0008t0005g0106 a0001c0008t0005g0115 a0001c0008t0005g0178 a0001c0008t0005g0202 a0001c0008t0005g0298 a0001c0008t0005g0341 a0001c0008t0005g0361 a0001c0008t0005g0386 a0001c0008t0005g0392 a0001c0008t0005g0400 a0001c0009t0001g0259 a0001c0012t0002g0218 a0001c0012t0004g0062 a0001c0020t0001g0321 a0001c0020t0014g0140 a0001c0022t0001g0278 a0001c0022t0001g0292 a0001c0022t0001g0303 a0001c0032t0004g0194 a0001c0032t0004g0195 a0001c0033t0003g0077 a0001c0050t0005g0125 a0001c0052t0006g0099 a0001c0053t0001g0126 a0001c0055t0005g0234 a0001c0056t0003g0330 a0001c0057t0001g0331 a0001c0058t0009g0214 a0001c0064t0002g0149 a0001c0066t0007g0258 a0003c0030t0003g0040 a0003c0030t0003g0212 a0004c0051t0004g0112 a0008c0054t0003g0266	159	232	0.6853	-195	c.774 others(15): Show c.774+765_775-754del		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59822015	CCAGCGAT others(188): Show CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC GCCCCGCAACGATCCCACCCCTTCTCCAGCGATCCCACCCCCTCCGCAGC GATCCCACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCC CTTCCGCAGCGATCCCACCCCCTCCGCAGCCATCCCACCCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	248	0.0040	-195	c.132 others(21): Show c.1329-14485_1329-14291del		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHLPP2_chr16_71639924_71729701	71697127	GGCACCAC others(188): Show GGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACTCTGTCTCAATA AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAAACT CAGGGTCTGCAATTTTCCACACTTGACTTCAATTATTGCTCTGATTATTG CCATCCTAGCCCACCAGACAGGAAAAGAGCACCACAGCCCTGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0170 a0001c0005t0002g0170	1	322	0.0031	-195	c.418 others(17): Show c.418+5276_418+5470del		PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	3/18						chr16	TogoVar
PRKAG2_chr7_151551127_151882115	151874330	TATGATGT others(188): Show TATGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGT ATATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTAT ATGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTA TATGTATATGATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0244 a0001c0001t0029g0244	1	250	0.0040	-195	c.114 others(17): Show c.114+1982_114+2176del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PXDN_chr2_1626887_1749515	1706917	TTCACCAA others(188): Show TTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGA GAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACT AATAATACAATCTGAGAGCATGCTTCAGTGTTCAGCGATCAGCTCTAAAC ATCACCTGCCCCACTAATTATACAATCTAAGAGCACGCTGCAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18969.hp1 NA19062.hp1 HG01175.hp2 NA18969.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0130 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0001t0005g0130 a0001c0001t0012g0272 a0001c0001t0012g0278	3	318	0.0094	-195	c.201 others(19): Show c.201-13978_201-13784del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RIC3_chr11_8101056_8174025	8161843	TCCCACTT others(188): Show TCCCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAATGTCCGAAACTGT TGCTATAAATGAGACACTCACTTTCTCCGGGCAATGGAATGTGAGGAGGT AATGTCCGAAACTGTTGCTATAAATGAGACACTCACTTTCTCCGGGCAAT GGAATGTGAGGAGGTAATGTCCGAAACTGTTGCTATAAATGAGACA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01346.hp2 others(6): Show HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02300.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0008 a0001c0001t0027	a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 others(6): Show a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0027g0021	9	367	0.0245	-195	c.124 others(17): Show c.124+6828_124+7022del		RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5						chr11	TogoVar
RIN2_chr20_19753258_20007456	19923540	GGCCAAGG others(188): Show GGCCAAGGTGGGAGGATTACTTGAGCCCAGGAGTTTGAGACCAGCTTGGG CAACACAGCAAGACTCCATCTCTATTTTTAAAAATAGACAAATATTAAAT TATCCATTGTGTTTATTTCCTTTAGATACTACCATTTACTAATTAGAACT AAAATTATAAAGTTATTCACAACAAAATACTCATTTCACTTAACTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	274	0.0036	-195	c.58- others(17): Show c.58-11558_58-11364del		RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12						chr20	TogoVar
RNF213_chr17_80255852_80403794	80314658	ATGGTGGA others(188): Show ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0010 a0001c0076t0010	a0001c0076t0010g0211 a0001c0076t0010g0211	1	287	0.0035	-195	c.281 others(19): Show c.2811+1498_2811+1692del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315054	ATGGAGGT others(188): Show ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGA TGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp2 others(46): Show HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0018 a0025 a0030 a0038 a0046 a0048 a0056 a0057 a0065 a0068 a0070 a0073 a0085 a0100 a0103	a0001c0004 a0001c0006 a0001c0021 others(30): Show a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0124 a0002c0002 a0002c0039 a0002c0099 a0003c0005 a0003c0030 a0004c0045 a0005c0105 a0006c0009 a0007c0008 a0008c0013 a0012c0012 a0013c0118 a0014c0138 a0018c0019 a0025c0088 a0030c0031 a0038c0137 a0046c0115 a0048c0136 a0056c0134 a0057c0120 a0065c0065 a0068c0113 a0070c0146 a0073c0147 a0085c0135 a0100c0068 a0103c0104	a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 others(37): Show a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 a0001c0006t0010 a0001c0021t0001 a0001c0029t0006 a0001c0029t0010 a0001c0124t0001 a0002c0002t0005 a0002c0002t0007 a0002c0039t0002 a0002c0099t0020 a0003c0005t0006 a0003c0005t0010 a0003c0005t0061 a0003c0030t0006 a0004c0045t0010 a0005c0105t0004 a0006c0009t0005 a0006c0009t0018 a0007c0008t0004 a0008c0013t0017 a0012c0012t0037 a0013c0118t0020 a0014c0138t0003 a0018c0019t0014 a0025c0088t0011 a0030c0031t0003 a0038c0137t0009 a0046c0115t0003 a0048c0136t0014 a0056c0134t0004 a0057c0120t0038 a0065c0065t0014 a0068c0113t0004 a0070c0146t0036 a0073c0147t0017 a0085c0135t0060 a0100c0068t0018 a0103c0104t0004	a0001c0004t0002g0054 a0001c0004t0006g0039 a0001c0004t0006g0266 others(46): Show a0001c0004t0002g0054 a0001c0004t0006g0039 a0001c0004t0006g0266 a0001c0004t0010g0040 a0001c0006t0010g0043 a0001c0021t0001g0066 a0001c0021t0001g0067 a0001c0021t0001g0080 a0001c0029t0006g0048 a0001c0029t0010g0049 a0001c0124t0001g0065 a0002c0002t0005g0072 a0002c0002t0007g0050 a0002c0039t0002g0240 a0002c0099t0020g0253 a0003c0005t0006g0058 a0003c0005t0010g0265 a0003c0005t0061g0044 a0003c0030t0006g0037 a0003c0030t0006g0042 a0004c0045t0010g0195 a0005c0105t0004g0270 a0006c0009t0005g0273 a0006c0009t0018g0272 a0007c0008t0004g0078 a0007c0008t0004g0287 a0008c0013t0017g0236 a0008c0013t0017g0241 a0008c0013t0017g0250 a0012c0012t0037g0212 a0013c0118t0020g0166 a0014c0138t0003g0005 a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 a0025c0088t0011g0165 a0030c0031t0003g0019 a0038c0137t0009g0015 a0046c0115t0003g0035 a0048c0136t0014g0011 a0056c0134t0004g0014 a0057c0120t0038g0249 a0065c0065t0014g0028 a0068c0113t0004g0031 a0070c0146t0036g0172 a0073c0147t0017g0175 a0085c0135t0060g0016 a0100c0068t0018g0261 a0103c0104t0004g0023	49	233	0.2103	-195	c.281 others(19): Show c.2811+1892_2812-1935del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	355801	GCGACCGT others(188): Show GCGACCGTGCACCACACTTACTAAAAGACATCTTCACAGGCGACCGTGCA CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0036 a0004c0013t0003g0036	1	132	0.0076	-195	c.-34 others(11): Show c.-3497_-3303del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					2995		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3177739	ATCGGGCT others(188): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03139.hp1 NA18942.hp2 HG02486.hp1 HG03139.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	403	0.0074	-195	c.-10 others(10): Show c.-1053_-859del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					1029		chr19	TogoVar
SHC2_chr19_411589_466033	452270	GTTTCATT others(188): Show GTTTCATTGAGGTTGGGGCATCGTACTGACTTGGGGGGAGTTCCTGCGTA GGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCATCGTACTGACTTGGG GGGAATTCCTGCGTAGGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCA TCGTACTGACTTGGGGGGAATTCCTGCATAGGTGTGCGTTTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	204	0.0049	-195	c.468 others(17): Show c.468+8064_468+8258del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SIGIRR_chr11_400716_419999	411440	GTGCCCAG others(188): Show GTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCAT GTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGAT ACAGTCGGCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA21309.hp1 HG02717.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0014 a0001c0001t0005g0197 a0001c0001t0001g0014 a0001c0001t0005g0197	2	239	0.0084	-195	c.-15 others(19): Show c.-153-1608_-153-1414del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	411603	GGTGCCCA others(188): Show GGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCT GACCATGTCTGGATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCT GGATACAGTCGGTGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGAT GCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	240	0.0042	-195	c.-15 others(19): Show c.-153-1771_-153-1577del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	412050	GGGGGGTG others(188): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCC AGCTCTGACCATGTCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACC ATGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGAT ACAGTCGGGGAGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	239	0.0042	-195	c.-15 others(19): Show c.-153-2218_-153-2024del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071506	CCCCCAGC others(188): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	110	0.0091	-195	c.224 others(19): Show c.2241+1932_2241+2126del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852150	CCCATGGC others(188): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCT CCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCA CCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp1 HG03453.hp2 HG01192.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0176 a0001c0001t0001g0329 a0001c0001t0001g0087 a0001c0001t0001g0176 a0001c0001t0001g0329	3	354	0.0085	-195	c.645 others(17): Show c.645+1513_645+1707del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852251	CCCCCACC others(188): Show CCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	317	0.0032	-195	c.645 others(17): Show c.645+1630_646-1802del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852299	ACCAGATC others(188): Show ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCC CCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0249 a0006c0023t0001g0249	1	144	0.0069	-195	c.645 others(17): Show c.645+1671_646-1761del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
TCERG1L_chr10_131087391_131316721	131228169	GGACAGGC others(188): Show GGACAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGACAGGCATT TCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCC TCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTT CCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02074.hp1 HG00438.hp1 HG02040.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0009g0275 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0009g0275	3	320	0.0094	-195	c.856 others(19): Show c.856+31895_856+32089del		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11						chr10	TogoVar

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