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
CSMD1_chr8_2930361_4999914	3795288	TCATGTAC others(428): Show TCATGTACAGATATATATATCTATCATGTACAGATATAGATATCTATCAT GTAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAG ATATAGATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCAAGTACAGCTATAG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19043.hp1 NA19074.hp2 NA18979.hp2 NA19043.hp1 NA19074.hp2	a0001 a0001	a0001c0080 a0001c0090 a0001c0093 a0001c0080 a0001c0090 a0001c0093	a0001c0080t0041 a0001c0090t0001 a0001c0093t0009 a0001c0080t0041 a0001c0090t0001 a0001c0093t0009	a0001c0080t0041g0025 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0080t0041g0025 a0001c0090t0001g0027 a0001c0093t0009g0007	3	122	0.0246	-435	c.819 others(19): Show c.819-41681_819-41247del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(428): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCC CTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG00738.hp1 others(19): Show HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01261.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18999.hp2 NA19055.hp1 NA19074.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0020 a0043	a0002c0001 a0003c0006 a0005c0004 others(3): Show a0002c0001 a0003c0006 a0005c0004 a0005c0008 a0020c0031 a0043c0058	a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 others(7): Show a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0008t0001 a0005c0008t0003 a0020c0031t0003 a0043c0058t0003	a0002c0001t0003g0208 a0003c0006t0001g0017 a0003c0006t0002g0030 others(14): Show a0002c0001t0003g0208 a0003c0006t0001g0017 a0003c0006t0002g0030 a0005c0004t0001g0001 a0005c0004t0001g0105 a0005c0004t0001g0108 a0005c0004t0002g0001 a0005c0004t0002g0090 a0005c0004t0003g0001 a0005c0004t0003g0006 a0005c0004t0003g0111 a0005c0008t0001g0001 a0005c0008t0001g0006 a0005c0008t0003g0001 a0020c0031t0003g0006 a0020c0031t0003g0118 a0043c0058t0003g0001	22	388	0.0567	-435	c.197 others(17): Show c.1976+721_1977-359del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109243	GTGTCTCC others(428): Show GTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTC CCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCT CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0236 a0002c0001t0003g0236	1	173	0.0058	-435	c.197 others(17): Show c.1977-752_1977-318del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319323	ATTAGCCG others(428): Show ATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGC CAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAA CATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGG TGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATC ACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCG TCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGT TCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATAC AAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03927.hp2 NA19240.hp2 HG02976.hp1 HG03927.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0021 a0002c0005t0002 a0001c0001t0002 a0001c0001t0021 a0002c0005t0002	a0001c0001t0002g0000 a0001c0001t0021g0000 a0002c0005t0002g0000 a0001c0001t0002g0000 a0001c0001t0021g0000 a0002c0005t0002g0000	3	404	0.0074	-435	c.54 others(11): Show c.5408_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4566		chr6	TogoVar
FRYL_chr4_48492357_48785279	48659484	GGGAGAAG others(428): Show GGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01943.hp2 HG02965.hp1 HG00642.hp1 HG01943.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0247 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0001t0001g0247 a0001c0002t0001g0024 a0001c0002t0001g0041	3	250	0.0120	-435	c.-81 others(19): Show c.-81+24754_-80-24995del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GFRA3_chr5_138247380_138279621	138271602	TCTCTGTC others(428): Show TCTCTGTCACCCAGACTGGAGTGCAGTGGTACAATCGCCACTCACTGCAG CCTACAGTCTCGACCTCCCAGGCTCAGGTGAATTCTCCCACCTCAGCCTC CCAAGTAGCTGGGACTGCATGCATGCACTACCACGCCCAGCTAATTTTGT ATTTTTTGTAGAGATGGGTTTTCACCATGTTGCCCGGGCTGGTCTCGAAC TCTTGAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAATGCTGGGATT ATAGGCGTGAGCCACCATTCCCGGCAGTATTTTCTTTTCTGTTTTTTTTT TTTTTTTTTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTTTGG TTGTTTTATTTGTTTGTTTGGTTGGTTTTTTTTGCACGTTCACAGTATTT TCTTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp2 others(14): Show HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01167.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02630.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03579.hp2 HG04228.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0005t0001 a0005c0006t0001	a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 others(14): Show a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0003g0214 a0001c0002t0001g0127 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0003c0005t0001g0222 a0005c0006t0001g0212	17	374	0.0455	-435	c.91+ others(15): Show c.91+2297_91+2731del		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7						chr5	TogoVar
ITGB5_chr3_124756948_124892365	124789816	TCAGAACC others(428): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACA GGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0210 a0002c0003t0001g0210	1	287	0.0035	-435	c.169 others(19): Show c.1693+6137_1693+6571del		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
NFATC1_chr18_79390930_79534323	79520861	GGGGGGGG others(428): Show GGGGGGGGCATCCACTGGTGTGTGTGTCTGTGTGTGTGTAGGAGGGGAGC ATCCACTGGTGTGTGTGTGGGAGGGAGCATCCACTGATGTGTGTGTCTGT GTGTGGGGGGGCATCCGCTGATGTGTGTGTCTGTGTGTGTGGGGGGGGGC ATCCACTGATATGTGTGTCTGTGTATGGGGGTGGGAGCATCCACTGATGT GTGTCCATGTGTGTGTGGGGGCATCCGCTGATGTGTGTGTCTGTGTGTGT GTGGGGGGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTAGGGGGGGA GCATCCACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGCTGATATGT GTGTCTGTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCCATGTGTGT GTGGGGGCATCCGCTGATGTGTGTGTCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01517.hp2 HG02486.hp2 HG01257.hp1 HG01517.hp2 HG02486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0027 a0003c0007 a0001c0001 a0001c0027 a0003c0007	a0001c0001t0021 a0001c0027t0008 a0003c0007t0008 a0001c0001t0021 a0001c0027t0008 a0003c0007t0008	a0001c0001t0021g0204 a0001c0027t0008g0030 a0003c0007t0008g0020 a0001c0001t0021g0204 a0001c0027t0008g0030 a0003c0007t0008g0020	3	320	0.0094	-435	c.278 others(19): Show c.2783-6659_2783-6225del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NOC4L_chr12_132139457_132157468	132149666	TACCACAC others(428): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	184	0.0054	-435	c.901 others(15): Show c.901+801_902-851del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149930	TACCACAC others(428): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	141	0.0071	-435	c.902 others(16): Show c.902-1012_902-578del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(428): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGG ATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCACCCCGACC CCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTC AGGGGGACACAGAGGACTTGGCTCCCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00621.hp1 NA18982.hp1 NA19082.hp1 HG00621.hp1 NA18982.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0008g0143 a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0008g0143	3	261	0.0115	-435	c.735 others(11): Show c.735-403_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288791	TCCCCCGT others(427): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04115.hp2 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0042 a0001c0002t0001g0043	2	222	0.0090	-434	c.43 others(11): Show c.4339_*4772del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3599		chr1	TogoVar
ACYP2_chr2_53966113_54310300	54147093	GCTGCTTT others(427): Show GCTGCTTTTTGCATTGTTTCTATTTCTTCTAAGTTACTTTTCTTTTCTTT CTCTTCTTCTTTCCATTTTTCTCCTGTTTGCTTGTTTTGCTTATCTTTTA TATTGCCGGCTTTCCTTACAATCATATTTTCAGTAACTTAGTCATACATA AATCAAAACAGCCAACAATAAGCAGGACTTAAGGAAATTTTCCAATATGT AGACTTATGGGCTTGAGGAATGGTGGTGACTGGGTGGGGAACTGGCATTT TTGTTAGTGAATCTCCAAATGTCAGATCTATGCGTTCTGTCTTCTGCAGT GGTGTCTCCAAATCCTGAGTCTTCTGTGAGGTCCATGGGGGTAAGCTGAC TTGCTTCTCATTATTTCTGTAGGCACTTAGTCTGTAACATCCTTTGGTTT ACTGTATAGTTACTCCTTCTCCACTTGCTTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	270	0.0037	-434	c.404 others(17): Show c.404+8348_404+8781del		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	356724	GGAGTGGA others(427): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG03139.hp2 HG02280.hp1 HG02922.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0059 a0004c0003t0024 a0001c0001t0001 a0001c0001t0059 a0004c0003t0024	a0001c0001t0001g0017 a0001c0001t0059g0016 a0004c0003t0024g0029 a0001c0001t0001g0017 a0001c0001t0059g0016 a0004c0003t0024g0029	3	252	0.0119	-434	c.244 others(17): Show c.244+2937_244+3370del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357356	CTCAGTCA others(427): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00673.hp2 others(33): Show HG00438.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01934.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA18946.hp1 NA18950.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp1 NA18998.hp1 NA19011.hp1 NA19064.hp1 NA19083.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0002c0011 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0045 a0001c0001t0060 a0001c0001t0064 a0001c0010t0005 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0011t0001 a0003c0004t0004 a0005c0005t0008 a0005c0005t0014 a0005c0005t0038 a0005c0005t0039	a0001c0001t0001g0141 a0001c0001t0001g0253 a0001c0001t0001g0263 others(33): Show a0001c0001t0001g0141 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0127 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0163 a0001c0001t0003g0259 a0001c0001t0005g0051 a0001c0001t0005g0087 a0001c0001t0045g0252 a0001c0001t0060g0261 a0001c0001t0064g0128 a0001c0010t0005g0083 a0002c0002t0001g0059 a0002c0002t0001g0105 a0002c0002t0001g0115 a0002c0002t0006g0076 a0002c0002t0006g0085 a0002c0002t0007g0249 a0002c0011t0001g0084 a0003c0004t0004g0100 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0014g0116 a0005c0005t0038g0024 a0005c0005t0039g0250	36	263	0.1369	-434	c.244 others(17): Show c.244+4225_244+4658del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP11A_chr13_112685038_112892168	112864727	TGCAGCTT others(427): Show TGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCGG CCCATGCAGCTTCTCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGT GCAGCCCATGCAGCTTCCCAGCGGGATCCATCACCACCTGCGCAGTAATT CAGTGCAGGCCTGCGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAG TAATTCAGTGCGGCCCATGCAGCTTCTCAGCAGGGTCCATCACCACCTGC ACAGTAATTCAGTGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCAC GTGCGCAATAATTCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCA CCACATGGGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCC ATCACCACCTGCGCAGTAATTCAGTGCAGGCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0201 a0001c0002t0061g0201	1	248	0.0040	-434	c.299 others(19): Show c.2991+2185_2991+2618del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DPP6_chr7_154047398_154899285	154657124	ATGGGTGG others(427): Show ATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGGTGGAGA GGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAG GAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGT GGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCT GCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGA TGCTCGAGTGGGTGGAGAGGCTGCGTTGGAGGAGGTGCTCATGGGTGGGT GGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGT GGGAGGAGATGCTCGAGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCA TGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01071.hp2 others(13): Show HG00558.hp2 HG00673.hp2 HG01071.hp2 HG01433.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02559.hp1 HG02559.hp2 NA18747.hp1 NA18747.hp2 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(9): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0027 a0002c0002 a0002c0005 a0002c0023	a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 others(13): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 a0001c0011t0003 a0001c0020t0001 a0001c0021t0011 a0001c0024t0028 a0001c0025t0001 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0005t0015 a0002c0005t0024 a0002c0023t0014	a0001c0001t0001g0019 a0001c0006t0002g0015 a0001c0006t0003g0014 others(13): Show a0001c0001t0001g0019 a0001c0006t0002g0015 a0001c0006t0003g0014 a0001c0007t0019g0037 a0001c0011t0003g0013 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0024t0028g0002 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0002g0021 a0002c0002t0022g0030 a0002c0002t0029g0003 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0023t0014g0017	16	34	0.4706	-434	c.681 others(19): Show c.681-12235_681-11802del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25						chr7	TogoVar
HDHD5_chr22_17132520_17164277	17146631	AGGCCTTC others(427): Show AGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTC CTGTGAGCTTACCGGCCTTCAATCACACATCATCGCACACGCCCCACACC TGTGACGCCCTCCTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCAC ACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCAC ACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCG GCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCT GTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTG TGACGCCCTCCTGTGAGCTTACCGGCATTCGATCACACGCCATCGCACAC GCCCCACACCTGTGACGCCCTCCTGTGAGCTTACC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp2 HG03471.hp2 others(1): Show HG02615.hp1 HG03225.hp2 HG03471.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0001 a0001c0002t0002 a0005c0010t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0005c0010t0002 a0005c0010t0004	a0001c0002t0001g0173 a0001c0002t0002g0176 a0005c0010t0002g0172 others(1): Show a0001c0002t0001g0173 a0001c0002t0002g0176 a0005c0010t0002g0172 a0005c0010t0004g0177	4	417	0.0096	-434	c.443 others(17): Show c.443+1383_444-1515del		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7						chr22	TogoVar
LYPD8_chr1_248734415_248760759	248747431	GCCCGCAC others(427): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGC ATCCCCCGCACGGCCAGCACCCACCCAGGGCATCC	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	260	0.0038	-434	c.337 others(15): Show c.337+425_337+858del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
PKP3_chr11_389209_409908	400919	ACCCCGCT others(427): Show ACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCGGACCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGGCCCCGCTCACACCCGGC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	145	0.0069	-434	c.173 others(17): Show c.1737+218_1737+651del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R2_chr22_50338327_50450090	50433178	ACTGGGCA others(427): Show ACTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCA GGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACC TGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCC TGGAGGTGAACCTGGAGGAGGGCTGGGGGCGCGGACGCTGGGCAGGGGCC GGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATGC TGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCTGG GGGTGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTG GAGGAGGGCTGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTG GAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0105	1	338	0.0030	-434	c.140 others(18): Show c.1400+898_1401-1306del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(427): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18984.hp1 NA19011.hp1 HG02129.hp2 NA18984.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0223 a0001c0001t0001g0290 a0001c0001t0001g0189 a0001c0001t0001g0223 a0001c0001t0001g0290	3	228	0.0132	-434	c.915 others(17): Show c.915+2995_915+3428del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092869	CGCGCCTA others(427): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	324	0.0031	-434	c.915 others(17): Show c.915+3243_915+3676del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092922	TAACCGCA others(427): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAG AGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	302	0.0033	-434	c.915 others(17): Show c.915+3274_915+3707del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093148	CGCGCCTA others(427): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03516.hp2 HG02258.hp1 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0008 a0001c0001t0003 a0001c0002t0001 a0001c0002t0008	a0001c0001t0003g0098 a0001c0002t0001g0105 a0001c0002t0008g0238 a0001c0001t0003g0098 a0001c0002t0001g0105 a0001c0002t0008g0238	3	330	0.0091	-434	c.915 others(17): Show c.915+3553_915+3986del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SIGIRR_chr11_400716_419999	400919	ACCCCGCT others(427): Show ACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCGGACCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGGCCCCGCTCACACCCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	167	0.0060	-434	c.45 others(11): Show c.4543_*4976del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4796		chr11	TogoVar
SMOC2_chr6_168436184_168672992	168572677	GCATCCCC others(427): Show GCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTT CATTTCCTGCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCT GAACGCGATGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGGACCAGGGC TGCGTGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCTCCGGGTGC TGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGC ATCCCCTGGTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCA TTTCCTCCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCGGGGACCAGGGCTG CGTGCTCCTTGGACGCGATGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG01243.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0001t0001 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 others(1): Show a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0004t0005g0051	4	174	0.0230	-434	c.637 others(19): Show c.637+23506_637+23939del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251440	GGTGCCTC others(427): Show GGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGC CCGGCTTTAGTAGGTGCCGCGGACACTGCGCCCGGCTTTAGTAGGTGCCG CGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTT TAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACAC TGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGG TGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCC GGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCG GACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTA GTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	150	0.0067	-434	c.531 others(19): Show c.531+75327_531+75760del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
TAF4_chr20_61969798_62070881	61970859	GTTCAACA others(427): Show GTTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCGTCACACACC GGGCAGACGTGCATTCAACACCGGTTAGACGGGCATTCAGCTTCATCACT GCGTCACACACCGGGCAGACGTGCATTCAACACCGGTTAGACGTGCATTC AGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGT AGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGACGTGCGT TCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCATCACACACCGG GTAGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGC ATCACACACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCATTCAG CTTCATCACTGCGTCACACACCGGGCAGACGTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG03139.hp1 HG02258.hp1 HG02886.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0005t0001g0212 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0005t0001g0212	3	303	0.0099	-434	c.48 others(11): Show c.4875_*5308del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding					3938		chr20	TogoVar
TAF4_chr20_61969798_62070881	61970933	TTAGACGG others(427): Show TTAGACGGGCATTCAGCTTCATCACTGCGTCACACACCGGGCAGACGTGC ATTCAACACCGGTTAGACGTGCATTCAGCTTCATCACTGCATCACACACC GGGTAGACGTGCATTCAACACTGGGTAGACGGGCATTCAGCTTCATCACT GCATCACACACCGGGCAGACGTGCGTTCAACACTGGGTAGACGTGCATTC AGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGT AGACGTGCATTCAGCTTCATCACTGCATCACACACCGGGTAGACGTGCAT TCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCGTCACACACCGG GCAGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGC ATCACACACCGGGCAGACGTGCATTCAACACTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG03516.hp1 HG01261.hp2 HG02145.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128	3	248	0.0121	-434	c.48 others(11): Show c.4801_*5234del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding					3864		chr20	TogoVar
ZNF407_chr18_74592870_75070671	74915713	GTGTGTGT others(427): Show GTGTGTGTGCTGGTATGGTGAGGTTGTATGCAGCATTGGTTCGAATCGGG AGTGTGTGTGTGTATGTGTGTGTGTACATGTGTGTGCTGGTATGGTGAAG TTGTGTGAAGCATTGGTTCGAATCGGGAGTGTGTGGGTGTGTGCATGTGT GTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTG TGTGTGTGTGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGTA TTGGTTCGAATCGGGAGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGT ATGGAGAGGTTGTGTGCAGCATTGGTTCGAATTGGGAGTGTGTGTGTGTG TGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCG AATCGGGAGTGTGTGTGTGTGTGTGTGTGCATGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00642.hp2 others(24): Show HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG03195.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 NA18960.hp2 NA19030.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013	a0001c0001 a0001c0003 a0001c0010 others(13): Show a0001c0001 a0001c0003 a0001c0010 a0001c0024 a0001c0025 a0002c0004 a0002c0009 a0003c0005 a0003c0006 a0003c0030 a0004c0008 a0004c0033 a0005c0016 a0006c0013 a0010c0021 a0013c0023	a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 others(17): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0010t0001 a0001c0024t0001 a0001c0025t0004 a0002c0004t0004 a0002c0009t0003 a0003c0005t0001 a0003c0006t0002 a0003c0006t0004 a0003c0030t0011 a0004c0008t0007 a0004c0008t0008 a0004c0033t0004 a0005c0016t0002 a0006c0013t0007 a0010c0021t0001 a0013c0023t0002	a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0003t0002g0064 others(24): Show a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0003t0002g0064 a0001c0003t0005g0026 a0001c0003t0008g0029 a0001c0010t0001g0082 a0001c0024t0001g0071 a0001c0025t0004g0090 a0002c0004t0004g0048 a0002c0009t0003g0050 a0002c0009t0003g0062 a0003c0005t0001g0021 a0003c0005t0001g0022 a0003c0005t0001g0036 a0003c0006t0002g0084 a0003c0006t0002g0085 a0003c0006t0004g0092 a0003c0030t0011g0023 a0004c0008t0007g0015 a0004c0008t0008g0019 a0004c0033t0004g0041 a0005c0016t0002g0033 a0005c0016t0002g0034 a0006c0013t0007g0008 a0006c0013t0007g0009 a0010c0021t0001g0039 a0013c0023t0002g0007	27	90	0.3000	-434	c.525 others(19): Show c.5250-4666_5250-4233del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP5ME_chr4_667436_679276	669304	CACTACCC others(426): Show CACTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGC TATTCCCACTACCCCATGCTATTCCCCTACCCCATGCTATCCCCCTACCC CATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGCTATTCCCA CTACCCCATGCTATTCCCACTACGCCATGCTATTCCCGCTACCCCATGCT ATTCCCACTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTACG CCATGCTATTCCCACTACCCCATGCTATTCCCGCTACCCCATGCTATTCC CGCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGC TATTCCCGCTACGCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTAC CCCATGCTATTCCCGCTACCCCATGCTATTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(63): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025	66	392	0.1684	-433	c.27 others(11): Show c.2763_*3195del		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3131		chr4	TogoVar
CNST_chr1_246561456_246673595	246585382	CACATCTG others(426): Show CACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACTTG AGGTCAGGAGTTCGAGATCAGCCTGTCCAACATGGCGAAACCCTGCATGT ACTAAAAATACAAAAATTAGCCAGGCGTAGTGGTGCATGCCTGTAATCCC AGCTACTCAGGTGGCTGAGGCGGCAGAATCACTTGAATCGGGAGGCAGAG GTTGCAGTGAGCCAAGATCACACCACTGCCTTCCAGCCTGGGCAACAGAG ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATACACACACACACACA CACACACACACACACACACACACACACACACTATATATGTATACAGCATA AGTGCATATGATTTATGAACAGATATACCTACAGTGGGTATACTCAACGA TCAGTTTCTTTGCCTACGCTGGGCGTGGTGGCAT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	318	0.0031	-433	c.-51 others(17): Show c.-51-6116_-51-5684del		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134849410	GACCTCCT others(426): Show GACCTCCTGGGGAGCACGGGATCACACCTCCCAGGAAGCACAGTATCACA CCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACGATATCACACC TCCCAGGAAGCACAGGATCACACCTCCCAGGAACCATGATATCACACCTC CCAGGGAGCACAGGATCAGACCCCCCAGGGAGCACAGGATCACACCTCTC AGGAAGAACAGGATCACACCTCCCGGGGAAGACGATAGCACACCTCCCAG CGAGTGTGAGATCACACCTCCCAGTGAGCGTGGGATCACACCTCCCAGGA AGCATGGTATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAG CACGGGATCACACCTCCCAGGAAGCATGGGATCACACCTCCCAGGGAGCA CCAGATCACACCTCCCAGGAACCACGATATCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0018g0029 a0001c0004t0018g0208	2	253	0.0079	-433	c.71 others(11): Show c.7108_*7540del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4568		chr9	TogoVar
DIP2C_chr10_269201_694668	321873	GCGGGGCT others(426): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	86	0.0116	-433	c.392 others(19): Show c.3924+4700_3924+5132del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
EXOC3L4_chr14_103089725_103115559	103109168	TCCCCCGG others(426): Show TCCCCCGGTCTCCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTC CACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCT CTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0062 a0001c0005t0001g0062	1	400	0.0025	-433	c.197 others(17): Show c.1976+656_1977-426del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT9_chr12_132191372_132334589	132230989	TGACAGAG others(426): Show TGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGCCCCTACTGCCACACACTCCATGGGGCGACAG AGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCCTACTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18952.hp2 others(1): Show HG00408.hp1 HG00408.hp2 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0034 a0001c0011 a0001c0013 a0001c0034	a0001c0011t0001 a0001c0013t0004 a0001c0034t0004 a0001c0011t0001 a0001c0013t0004 a0001c0034t0004	a0001c0011t0001g0058 a0001c0011t0001g0130 a0001c0013t0004g0124 others(1): Show a0001c0011t0001g0058 a0001c0011t0001g0130 a0001c0013t0004g0124 a0001c0034t0004g0158	4	155	0.0258	-433	c.107 others(21): Show c.1077+16488_1077+16920del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31511220	TACATATG others(426): Show TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATATATGTATA TCTATATGTAACACACACATATATGTATATCTATATGTAACACACACATA TATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACA CACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18943.hp1 NA18954.hp1 others(3): Show HG00741.hp2 NA18943.hp1 NA18954.hp1 NA18980.hp1 NA18989.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0022 a0001c0002t0041 others(2): Show a0001c0002t0001 a0001c0002t0022 a0001c0002t0041 a0001c0002t0047 a0002c0005t0038	a0001c0002t0001g0034 a0001c0002t0001g0188 a0001c0002t0022g0050 others(3): Show a0001c0002t0001g0034 a0001c0002t0001g0188 a0001c0002t0022g0050 a0001c0002t0041g0106 a0001c0002t0047g0047 a0002c0005t0038g0077	6	242	0.0248	-433	c.894 others(17): Show c.894-7835_894-7403del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PDE6B_chr4_620573_675782	669304	CACTACCC others(426): Show CACTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGC TATTCCCACTACCCCATGCTATTCCCCTACCCCATGCTATCCCCCTACCC CATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGCTATTCCCA CTACCCCATGCTATTCCCACTACGCCATGCTATTCCCGCTACCCCATGCT ATTCCCACTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTACG CCATGCTATTCCCACTACCCCATGCTATTCCCGCTACCCCATGCTATTCC CGCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGC TATTCCCGCTACGCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTAC CCCATGCTATTCCCGCTACCCCATGCTATTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(60): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0026 a0001c0029 a0002c0003 a0005c0011 a0006c0013 a0011c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0001c0026t0001 a0001c0029t0001 a0002c0003t0005 a0005c0011t0001 a0006c0013t0010 a0011c0020t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0018 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0004g0068 a0001c0001t0004g0093 a0001c0001t0005g0141 a0001c0001t0005g0250 a0001c0001t0006g0049 a0001c0001t0012g0034 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0083 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0036 a0001c0002t0004g0062 a0001c0002t0004g0094 a0001c0004t0001g0038 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0091 a0001c0004t0001g0096 a0001c0005t0001g0204 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0247 a0001c0017t0004g0037 a0001c0026t0001g0007 a0001c0029t0001g0033 a0002c0003t0005g0253 a0002c0003t0005g0254 a0002c0003t0005g0255 a0002c0003t0005g0256 a0002c0003t0005g0257 a0002c0003t0005g0258 a0002c0003t0005g0259 a0002c0003t0005g0260 a0002c0003t0005g0261 a0002c0003t0005g0262 a0005c0011t0001g0251 a0005c0011t0001g0252 a0006c0013t0010g0044 a0006c0013t0010g0045 a0011c0020t0001g0064	63	306	0.2059	-433	c.250 others(17): Show c.2504-741_2504-309del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21						chr4	TogoVar
RAN_chr12_130867066_130882678	130882245	CCTCCGTC others(426): Show CCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGT ACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCA CTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATC TGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCT CCTCCATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAG GTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCA CTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGA TCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTC CTCCTCTGTCTGTGGATCTGCGTGGTCTCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	424	0.0024	-433	c.63 others(11): Show c.6320_*6752del		RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding					4568		chr12	TogoVar
SDHA_chr5_213320_262082	257848	GTGTGAGC others(426): Show GTGTGAGCTCCGCCTCCTGCCATAGCATTACTGTGAGCTCCGCCTCCCGA CAGCATTACCGTGTGAGCTCCGCCCCCGTTAGAGCATTACTGTGTGAGCT CCACCCCCTGCCAGAGCATTACTGGGTGAGCTCCGCCCCTGCCAGAGCAT TACCTTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGTGAGCTCCACC CCCTGCCAGAGCATTACTGTGTGAGCTCCGCCTCCTGCCATAGCATTACT GTGAGCTCCGCCTCCCGACAGCATTACCGTGTGAGCTCCGCCCCCGTTAG AGCATTACTGTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGTGAGCT CCACCCCCTGCCAGAGCATTACCGTGAGCTCCGCCCCCTGTCAGAGCATT ACTGTGAGCTCCGCCCCATGTTAGAGCATTACTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG02280.hp2 HG02647.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18965.hp2 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0005 a0002c0003 a0005c0005	a0002c0003t0003 a0005c0005t0003 a0005c0005t0005 a0002c0003t0003 a0005c0005t0003 a0005c0005t0005	a0002c0003t0003g0020 a0002c0003t0003g0100 a0002c0003t0003g0101 others(6): Show a0002c0003t0003g0020 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0005c0005t0003g0105 a0005c0005t0005g0104 a0005c0005t0005g0106 a0005c0005t0005g0107	10	264	0.0379	-433	c.14 others(11): Show c.1429_*1861del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					767		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070414	GGGCATCA others(426): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCC CCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0096	1	116	0.0086	-433	c.224 others(19): Show c.2241+2786_2241+3218del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
STK32A_chr5_147230026_147392855	147243088	AATATGTG others(426): Show AATATGTGATTTTTAAAAAGTTTTTTAAAATTTTTAAAAAGATTTTTTAA AAGATTTTTAAAAATATTTTCTTCAAACTGTTTAATATTTCCAATATATA GATATGAGAAAAACATTTAACCAATAATTTTCCCAAGTAATGTTTCAAGA ATTCTCTCTTATGGAAAAAGTGTTTTTGTTCACTTTGAAGGTAATTAAGG AGCAAGATAAGAGGTTATTGGATGTCCCTTGAGATAAGCTATTCTTGCCA GAATTCATCCTGACACTTGTATTTCATGTTGTTCCATCTGATATCTGATC TTGAACACATAATTTTATTAGTTACTTATGTTGATCTTTATTCAGCAAAA ACAAAGTAGGAGATTTTCAGGCTAGGCATGGTTGCTTACGCCTGTAATCC CAGCACTTCAGGAGGCCGAGGCGGGCAGATCACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(115): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19070.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0004t0031 a0002c0003t0016	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0305 a0001c0001t0002g0316 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0157 a0001c0001t0004g0055 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0179 a0001c0001t0005g0030 a0001c0001t0005g0064 a0001c0001t0005g0156 a0001c0001t0006g0039 a0001c0001t0006g0192 a0001c0001t0006g0307 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0007g0188 a0001c0001t0009g0182 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0190 a0001c0001t0015g0310 a0001c0001t0018g0009 a0001c0001t0022g0041 a0001c0001t0024g0147 a0001c0001t0028g0193 a0001c0001t0032g0309 a0001c0004t0031g0314 a0002c0003t0016g0053	118	314	0.3758	-433	c.52+ others(15): Show c.52+3404_52+3836del		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
ZFYVE16_chr5_80403064_80488379	80419568	AGGGTTTC others(426): Show AGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGAT CCGCCTACCTCAGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCACTG CGCCTGGCTGATTCTTTCTCTTTTCATATAAACTTCAGGATTAGTTTCTT GAGGCCTACAGAGTAGCTTGCTAGGATTTTAGTTGGGATTGCACAAGAAT CTAGAGATCAGGTTGGGAAGAATTCATGTCTTTGGTTTTTTTTTGTTTTG TTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCA GTGGTGTGATCTTGGCTTACTGCAACATCCGCCTCCCGGGTTCAAGCGAT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACACTCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0021 a0004c0005t0007g0021	1	224	0.0045	-433	c.-93 others(17): Show c.-93-7906_-93-7474del		ZFYVE16	ENSG00000039319.17	transcript	ENST00000505560.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133135438	TGGGGGGG others(425): Show TGGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGT CCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCT GGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTC TCTGGGTCCCTGTAGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTG GTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGTGGG GGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTG GGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCT GTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGT CCCTGTGGTGGGTCTGGTCTCTGGGTCCCTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0252 a0006c0011t0005g0252	1	280	0.0036	-432	c.59 others(11): Show c.5928_*6359del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3764		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775688	AGGTGAGA others(425): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0022 a0001c0001t0036g0022	1	214	0.0047	-432	c.565 others(17): Show c.565+5891_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC73_chr11_32597721_32799662	32755927	CTATATAT others(425): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTATATATATATCT CCATATATATATCTATATATATATCTCCATATATATATCTATATATATAT CTCCATATATATATCTATATATATATCTCCATATATATATCTATATATAT ATCTCCATATATATATCTATATATATATCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02572.hp2 others(8): Show HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 others(8): Show a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0007t0001g0020	11	118	0.0932	-432	c.135 others(17): Show c.135+3750_135+4181del		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
COL5A1_chr9_134636803_134849843	134849285	GATCACAC others(425): Show GATCACACCTCCCAGGAACCACAATATCACACCTCCCAGGAACCACGATA TCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATATC ACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGATCAC ACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCACAC CTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCCCC CAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCCCG GGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCAGT GAGCGTGGGATCACACCTCCCAGGAAGCATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA21309.hp1 HG02280.hp1 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0031 a0014c0053 a0001c0031 a0014c0053	a0001c0031t0006 a0014c0053t0029 a0001c0031t0006 a0014c0053t0029	a0001c0031t0006g0048 a0014c0053t0029g0134 a0001c0031t0006g0048 a0014c0053t0029g0134	2	264	0.0076	-432	c.69 others(11): Show c.6983_*7414del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4443		chr9	TogoVar
CSMD1_chr8_2930361_4999914	3795628	CTATCATG others(425): Show CTATCATGTATAGATATAGATATATATCTATCATAGATATAGATATATAT CTATCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATAT CTATCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTAT CATGTACAGATATAGATATATACCTATCATGTACAGATATAGATATATAT CTATCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATAT ATATCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTAT CATGTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATG TACAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATA GATATAGATATATATCTATCATAGATATAGATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	126	0.0079	-432	c.819 others(19): Show c.819-42018_819-41587del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DLGAP2_chr8_732628_1713476	991011	AGACCCCC others(425): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	33	0.0303	-432	c.73+ others(17): Show c.73+83149_73+83580del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar

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