Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(379): Show GGAGGGGGGAGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAG GGGGGAGAGGGGAGGGGGGAGAGAGGGGGAGAGGGGGGAGGAGGGGGGAG AGGGAGAGGGGGAGGGAGGGGGGAGAGAGGGGAGGGAGGAGGAGGAGGGA GGGAGGGGGGAGAGAGAGGGGGGAGGGGAGGGGGGGAGAGAGCGAGGGGG AGGGAGGGGGGAGAGGAGGGGGAGGGAGGGGGAGGAGAGAGGGGGAGGAG AGGGGGAGAGGAGAGGGGGAGAGAGGAGGGGGGAGAGAGAGGGGGAGGGG AGGGGAGGAGAGGGGGAGGGAGGGAGAGAGGGGGGAGGGGGGGGAGAGAG AGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	108	0.0093	386	c.-18 others(405): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCTCCCCCCCCTCCCCCCTCTCTCCCTCCCTCCCCC TCTCCTCCCCTCCCCTCCCCCTCTCTCTCCCCCCTCCTCTCTCCCCCTCT CCTCTCCCCCTCTCCTCCCCCTCTCTCCTCCCCCTCCCTCCCCCTCCTCT CCCCCCTCCCTCCCCCTCGCTCTCTCCCCCCCTCCCCTCCCCCCTCTCTC TCCCCCCTCCCTCCCTCCTCCTCCTCCCTCCCCTCTCTCCCCCCTCCCTC CCCCTCTCCCTCTCCCCCCTCCTCCCCCCTCTCCCCCTCTCTCCCCCCTC CCCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCT CTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48641165	C C	CCTTGTTG others(379): Show CCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCC TATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCT TGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTAT GGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGT TGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGG ACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGG GGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACA GCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp1 HG03225.hp1 others(2): Show HG02897.hp2 HG03041.hp1 HG03225.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0033	a0001c0001t0002g0035 a0001c0001t0003g0008 a0001c0001t0003g0198 others(2): Show a0001c0001t0002g0035 a0001c0001t0003g0008 a0001c0001t0003g0198 a0001c0001t0020g0032 a0001c0001t0033g0034	5	253	0.0198	386	c.113 others(403): Show c.113-5431_113-5430insTTGTTGGGGCAGTGAGAACAGTGGGGGG CTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGC ACCGTGGC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(379): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCC TCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCTCCC CTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTC CCCCTCCTCTCCCCTCCCCCTTCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	245	0.0041	386	c.186 others(403): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTC CCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTTCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(379): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCATCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	165	0.0061	386	c.186 others(403): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCATCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(379): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(22): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp2 HG01123.hp2 HG01433.hp2 HG02148.hp1 HG02735.hp2 HG03017.hp2 HG03654.hp2 HG03669.hp2 HG04204.hp1 HG04228.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18994.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19065.hp2 NA19082.hp2 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024	a0001c0001t0002g0046 a0001c0001t0002g0088 a0001c0001t0002g0092 others(22): Show a0001c0001t0002g0046 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0144 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0003g0212 a0001c0001t0004g0208 a0001c0001t0015g0254 a0001c0001t0022g0206 a0001c0001t0023g0230 a0001c0001t0024g0211	25	189	0.1323	386	c.186 others(403): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(379): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	165	0.0061	386	c.186 others(403): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTTC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(379): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CTCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02602.hp1 HG01496.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0255 a0001c0001t0002g0256	2	166	0.0120	386	c.186 others(403): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCTCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(379): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18970.hp2 NA18950.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0034 a0001c0001t0002g0093	2	166	0.0120	386	c.186 others(403): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFEB_chr6_41678978_41740608	41738215	C C	CATATATA others(379): Show CATATATATGCATATATATACGTATATATATGCATATATATATGCATATA TATACGTATATATATGCATATATATATGCATATATATACGTATATATATG CATATATATATGCATATATATGTATATATATACGTATATATATGCATATA TATATGCATATATATATGCGTATATATATGCATATATATACGTATATATA TACATATATATGCATATATATATACGTATATATATGCATATATATATGCA TATATATATACATATATATATGCATATATATATGCATATATATACGTATA TATATGCATATATATGCATATATATACGTATATATATGCATATATATATG CATATATATACGTATATATATGCATATATATATGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02896.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG02896.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256	5	403	0.0124	386	c.-28 others(397): Show c.-2889_-2888insATGCATATATATATGCATATATATACGTATATAT ATGCATATATATATGCATATATATACGTATATATATGCATATATATGCAT ATATATACGTATATATATGCATATATATATGCATATATATATGTATATAT ATATGCATATATATATGCATATATATACGTATATATATATGCATATATAT GTATATATATACGTATATATATGCATATATATACGCATATATATATGCAT ATATATATGCATATATATACGTATATATATACATATATATGCATATATAT ATGCATATATATACGTATATATATGCATATATATATGCATATATATACGT ATATATATGCATATATATATGCATATATATACGTATATATATGCATATAT AT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2608		chr6	TogoVar
TPO_chr2_1408463_1548673	1531109	C C	CCCCCAAT others(379): Show CCCCCAATGTAGGCAACCCCCCAAATCTCCCCCACAGTGAGCAAAAACAC AAATTCCCCCACTGTGTGCAACCTCCACAAATCCTCCCAAGTCTGCAACC CCCCAAGTCCCCCCATTGTGAGCAACCACCCCAAATCCCGCCACTGTGTG CAACCTCCTCAAATCACCGGGTGTGCAACCTGCTCAAATCCCCCCACTGT GTGCAACCTCCTCAAATCTCTCAACTGTGTGCAACCTCCTCAAATCCCCC CTTCTGTGCAACTTCCCCAAATTCCAACTGTGTACAACCTCCTCAAATCC CTCCCACTCTTTGCAAACTCCCCAAATCGCCCCACTCTGTGCAACCGCCC CAAATCTACCCCAGTCTGTGAAACCTCCCCAAATCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0100 a0003c0006t0004g0101	2	127	0.0157	386	c.261 others(405): Show c.2619-9480_2619-9479insATGTAGGCAACCCCCCAAATCTCCCC CACAGTGAGCAAAAACACAAATTCCCCCACTGTGTGCAACCTCCACAAAT CCTCCCAAGTCTGCAACCCCCCAAGTCCCCCCATTGTGAGCAACCACCCC AAATCCCGCCACTGTGTGCAACCTCCTCAAATCACCGGGTGTGCAACCTG CTCAAATCCCCCCACTGTGTGCAACCTCCTCAAATCTCTCAACTGTGTGC AACCTCCTCAAATCCCCCCTTCTGTGCAACTTCCCCAAATTCCAACTGTG TACAACCTCCTCAAATCCCTCCCACTCTTTGCAAACTCCCCAAATCGCCC CACTCTGTGCAACCGCCCCAAATCTACCCCAGTCTGTGAAACCTCCCCAA ATCCACCCCA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(379): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0165 a0165	a0165c0164 a0165c0164	a0165c0164t0003 a0165c0164t0003	a0165c0164t0003g0020 a0165c0164t0003g0020	1	218	0.0046	386	c.106 others(405): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(379): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0059 a0007c0008t0003g0059	1	334	0.0030	386	c.103 others(407): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(379): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0003 a0028c0026t0003	a0028c0026t0003g0213 a0028c0026t0003g0213	1	334	0.0030	386	c.103 others(407): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(379): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATTATTATATATTATTATATATAATATAATATATATTAT TATATATTATTATATATAATATAATATATATTATTATATATTATATATAA TATAATATATATTATTATATATTATTATATATAATATAATATATATTATT ATATATTATTATATATAATATAATATATATTATTATATATTATTATATAT AATAATATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATAATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	11	0.0909	386	c.392 others(403): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATATATAATAATATATATTATATTATATATAA TAATATATAATAATATATATTATATTATATATAATAATATATAATAATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917239	C C	CGGAGGCT others(379): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0023 a0002c0004t0004g0023	1	327	0.0031	386	c.218 others(403): Show c.2183-170_2183-169insAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(379): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0172 a0005c0021t0001g0172	1	197	0.0051	386	c.483 others(401): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(379): Show TATTATATATATAATATATATTATATATATAATATATATATATTATATAT ATAATATATATATTTAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTAATATATATTATATATATAATATATATATTATAT ATATAATATATATATAATATATATATTATATATATTATATATATATTATA TATATATAATATATATATTTAATATATATATTATATATATAATATATATT ATATATATAATATATATATTTAATATATATTATATATATAATATATATAT TATATATATAATATATATAAAATATATATATTATATATATAATATATATA TTATATATATATTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0152 a0003c0004t0001g0152	1	49	0.0204	386	c.37 others(397): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TAATATATATATTATATATATAATATATATATTTTATATATATTATATAT ATAATATATATATTATATATATAATATATATTAAATATATATATTATATA TATAATATATATTATATATATAATATATATATTAAATATATATATTATAT ATATATAATATATATATAATATATATAATATATATATTATATATATATTA TATATATAATATATATATTATATATATAATATATATTAAATATATATATT ATATATATAATATATATTATATATATAATATATATATTAAATATATATAT TATATATATAATATATATATATTATATATATAATATATATTATATATATA AT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(379): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCAC CACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCACC AACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCC GCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0176 a0001c0001t0107g0176	1	37	0.0270	386	c.181 others(407): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGGGTGGTGGAGG GGTGCGGCGCGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGT GGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGG TGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(379): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATAGAAATATATATAT TTCTATATATATAAATATATATATTTCTATATATATAAATATATATATTT CTATATATATAAATATATATATATATAAATATATATATAAATATATATTT ATATATATATAAATATATATATATAAATATATATAAATATATATATATTT ATATATATAAATATATATATATTTATATATATAAATAAATATATATTTAT ATATATAAATAAATATATATTTATATATATAAATATATATATTTTTATAT ATATAAATATATATATTTATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0239 a0002c0005t0002g0239	1	59	0.0169	386	c.532 others(401): Show c.532+446_532+447insTATATATTTATATATATATAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAATATATATTTATT TATATATATAAATATATATTTATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATTTATATATATATATTTATA TATATATAAATATATATTTATATATATATTTATATATATATATATTTATA TATATAGAAATATATATATTTATATATATAGAAATATATATATTTATATA TATAGAAATATATATATTTCTATATATATAAATATATATATATTTCTATA TATATAAATATATATATTTATATATATAGAAATATATATATATTTATATA TATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA7_chr19_1035107_1070572	1049490	G G	GCTGCCCC others(380): Show GCTGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCC GTGAGCCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCC CGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTC CCCATGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCT CCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCC TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC CTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC CCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0003 a0004c0005t0002g0003	1	19	0.0526	387	c.255 others(402): Show c.2552+54_2552+55insTGCCCCCCACCACTCCCTCCCCGTGAGCCC CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCATGAAC CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG GCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT GAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCG TGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCC CGTGAAC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1052625	A A	AGAGGAGG others(380): Show AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG GGAGGTAGAGGAGGAGGGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGA AAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAG GAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAG GAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGA GAAAGAGGAGGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGG AGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0003 a0004c0005t0002g0003	1	4	0.2500	387	c.322 others(404): Show c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA GGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGGGGGGAGGTAGA GGAGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGG GAGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAA GGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGA GGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGGAGGAGAAGGAGGAG GGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGA GTAAGGGGG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	23/46			chr19	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(380): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAG TCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCC CACCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC CATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	278	0.0036	387	c.61+ others(402): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGA GGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(380): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGG AGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGAGATGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0012 a0004c0003t0003g0012	1	25	0.0400	387	c.259 others(408): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(380): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0068 a0004c0003t0001g0068	1	25	0.0400	387	c.259 others(408): Show c.2592-13712_2592-13711insTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCC ACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAGG others(380): Show AGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGG AGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGG GGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0032 a0001c0019t0032	a0001c0019t0032g0067 a0001c0019t0032g0067	1	30	0.0333	387	c.51 others(398): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCG TCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCT CCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCCTTCCCTCCTCC CCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCCCTC TCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCC CCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTC CCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(380): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTT CCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	123	0.0081	387	c.-1- others(402): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGA AGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(380): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	123	0.0081	387	c.-1- others(402): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGA AGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGA AGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687426	G G	GGCGAGCA others(380): Show GGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGC GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	237	0.0042	387	c.-18 others(398): Show c.-1823_-1822insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCT CGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1581		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(380): Show GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCGTGAC CACACACTGGCGGCGAGCACTTCCCACCCCTGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	146	0.0068	387	c.-18 others(398): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACA GGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	CCACCTGC others(380): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0274	1	157	0.0064	387	c.655 others(406): Show c.655-22375_655-22374insTCGGAATGAGTTAGGGTGGAGCAGGT GATCGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BTNL9_chr5_181035266_181066521	181046090	C C	CCCAGCCT others(380): Show CCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCC CCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCTCAACACCTCCTCCACCATCTCCCCAGCCTGTA GTGTTCCTCCACCATCTCCCCAGCCCTCAACACCTCCTCCACCATCTCCC CAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCA CCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0136 a0001c0005t0004g0136	1	388	0.0026	387	c.109 others(402): Show c.109+498_109+499insTGTAGTGTTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCCTCAACACCTCCTCCACCATC TCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCTCAACACCTCC TCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC TCCAGCC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(380): Show GTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGG TGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGAT GGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTG GTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGT GGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	55	0.0182	387	c.21 others(402): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCATCAT CACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCACCA CCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATCATC ACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(380): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	125	0.0080	387	c.-22 others(404): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82148443	G G	GAATGGTA others(380): Show GAATGGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGA TGGGTGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATG GTTGGGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGG TGGATGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTG GGTGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTAGA TGGGTGGATGGATAGATGGATGGGTGGGGGGGATAAGTGGTTGGATGGTT AGACGGATGGATGGATGGATGGATGAATAGATAGGTGGGTGGATGGATGG GTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0081 a0003c0004t0003g0081	1	250	0.0040	387	c.245 others(406): Show c.2455+3116_2455+3117insTACCCACCCACCCATCCATCCATCCA CTATCCACCCACCCATCCATCCACCCACCTATCTATTCATCCATCCATCC ATCCATCCGTCTAACCATCCAACCACTTATCCCCCCCACCCATCCATCTA TCCATCCACCCATCTACCCACCCACCCATCCATCCACCCACCCACCCATC CATCCACCCACCCACCCACCCATCCATCCACCCACCTATCTATCCTTCCA TCCATCCATCCACCCACCCATCCATGTATTCATCCACCCGTCCATCTGTC CACCCACCCAACCATCCATCCATCTACCCATCCACCCACCCATTCATCTA TCTGCCCACCCATCCATCTATCCATCTACCCACCCACCCATCCATCCATC CATCTACCATT	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882475	G G	GCGGGAGA others(380): Show GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	244	0.0041	387	c.303 others(406): Show c.303+23646_303+23647insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(380): Show CACTATATATAGTTTATATATACTATATATACACTATATATAGTAGTTAT ATATACTACTATATATACTACTATATATAGTATATACTATATATACACTA TATATAGTAGTTATATATACTACTATATATACTACTATATATAGTATATA CTATATATACACTATATATAGTAGTTATATATACTACTATATATACTACT ATATAGTATATACTATATATACACTATATATACACTATATATAGCATATA TACTATATATACACTATATATAGTAGTTATATATACTATATATACACTAT ACATACACTATATATAGTTTATATATACTATATGTAGTAGTTATATAAAC TATATATACTATATATAGTTTATATATAAACTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp1 HG02572.hp1 HG03195.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0029 a0004c0008t0037 a0004c0008t0029 a0004c0008t0037	a0004c0008t0029g0108 a0004c0008t0037g0107 a0004c0008t0029g0108 a0004c0008t0037g0107	2	28	0.0714	387	c.349 others(402): Show c.349+939_349+940insTTATATATACTATATATACACTATATATAG TAGTTATATATACTACTATATATACTACTATATATAGTATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTTATATATACTACTATATA TACTACTATATAGTATATACTATATATACACTATATATACACTATATATA GCATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATACATACACTATATATAGTTTATATATACTATATGTAGTAGTTA TATAAACTATATATACTATATATAGTTTATATATAAACTATATATACTAT ATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(380): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCC CTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03486.hp2 HG02109.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	2	9	0.2222	387	c.69 others(398): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT1_chr16_58514951_58634826	58586424	G G	GAGGGGAA others(380): Show GAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAGGGCAGGGGGA GGGGAAGGGAAGGGCAGGGGAGGGGAGGGGGACTGGAGGGGAGGGGACGG GAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGG GAAGGGAAGGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGA GAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGA GGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	200	0.0050	387	c.637 others(402): Show c.637+120_637+121insTGCCCTCCCCTCCCCCCCTCCTCCCCTTCC CCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCC TTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCT CCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCTGCCCTTC CCTTCCCCTCCCCCTGCCCTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCC TTCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54134145	C C	CCTCTCCA others(380): Show CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	214	0.0047	387	c.-38 others(398): Show c.-3899_-3898insCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTC CCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCC CCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTT CTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCT CTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3616		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(380): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC CTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0292 a0006c0016t0002g0292	1	262	0.0038	387	c.268 others(406): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG ACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(380): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC CTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0001 a0002c0064t0001	a0002c0064t0001g0040 a0002c0064t0001g0040	1	262	0.0038	387	c.268 others(406): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG CAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGG ACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(380): Show TATAAATATATATGTAAATATATAAATATATATAAATAAATATATATAAA TATATATAAATATAAATATATATATAAATATGTAATTCTAAATATATATG TAAATATATATAAATATAAATATATTTATAAATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATAAATATATAAATATATATA TATTTATAAATATATAAATATATATAAAAATATATATAAATATATAAAAA ATATAAATATATATAAATATATAAATATATGTAAATATATATAAATATAT ATATAAATATATATATAAATATATATATATAAATATATATAAATATATAA CTATATAAATAAATATATATAAATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	250	0.0040	387	c.181 others(406): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATTTACATATATTTATATATTTAT ATATATTTATATTTTTTATATATTTATATATATTTTTATATATATTTATA TATTTATAAATATATATATATTTATATATTTATAAATATATATATATTTA TATATATATAAATATATATATATTTATATATTTATAAATATATTTATATT TATATATATTTACATATATATTTAGAATTACATATTTATATATATATTTA TATTTATATATATTTATATATATTTATTTATATATATTTATATATTTACA TATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(380): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAATATATAAATATATATATAAATATATATAAATATGTAA ATATATATATAAATATATATAAATATATAAATATATATATAAATATATAA ATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAAT ATATAAATATATATAAATATATATATAAATATATATAAATATATAAATAT ATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATAT ATAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	120	0.0083	387	c.181 others(406): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTACATATTTATATATATTTATATATATATTTATATAT TATATATATTTATATATATATTTATATATATATTTATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATTTATATATA TATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(380): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATG GCAGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp1 NA21309.hp2	a0010 a0033 a0060 a0010 a0033 a0060	a0010c0102 a0033c0176 a0060c0157 a0010c0102 a0033c0176 a0060c0157	a0010c0102t0001 a0033c0176t0001 a0060c0157t0002 a0010c0102t0001 a0033c0176t0001 a0060c0157t0002	a0010c0102t0001g0035 a0033c0176t0001g0010 a0060c0157t0002g0006 a0010c0102t0001g0035 a0033c0176t0001g0010 a0060c0157t0002g0006	3	22	0.1364	387	c.371 others(406): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGT GGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760437	A A	ACACACGC others(380): Show ACACACGCATACACACCCACACCCCCCCCACTCACACACACGCACACCCC CACACCCCCACACTCATACACACATGCACACACACCACACAGGCACACAC ACACCCACGCACCCCCACACTCATACATGCACACACACGCATACACGCCC ACACACCCCCATACTCATACACGCCCACACACCCCCACACTCACATGTGC ACAGACACCACACATGCACACACATACATGCACACACACATACACACCCA CACCCCCACACTCATACACACATGCACACACCACACATGCGCGCACACGC ATACACACCCACACACCCCACACTGATACACACATGCACACACGCACACA CCCCCACACCCCCCACACTCATACACACATGCACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	270	0.0037	387	c.193 others(406): Show c.1936-1483_1936-1482insGCATACACACCCACACCCCCCCCACT CACACACACGCACACCCCCACACCCCCACACTCATACACACATGCACACA CACCACACAGGCACACACACACCCACGCACCCCCACACTCATACATGCAC ACACACGCATACACGCCCACACACCCCCATACTCATACACGCCCACACAC CCCCACACTCACATGTGCACAGACACCACACATGCACACACATACATGCA CACACACATACACACCCACACCCCCACACTCATACACACATGCACACACC ACACATGCGCGCACACGCATACACACCCACACACCCCACACTGATACACA CATGCACACACGCACACACCCCCACACCCCCCACACTCATACACACATGC ACACACCACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(380): Show TTTATATATATTTATATATATTTATATATATATTTATATATATTTATATT TATATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTTTATATATTTATATATATT TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATATTTATATATATT TATATATATATATTTATATATATTTATATATATATATTTATATATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATGTATATTTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	46	0.0217	387	c.-2+ others(404): Show c.-2+56296_-2+56297insTATATAAATATACATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATATATAAATATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATATAAATATATATAAATATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATAAATATATATAAATATATAAAAATATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATAAATATAAATATATATAAATATATATATAAATATATATAAA TATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CSF2RA_chrX_1263814_1314935	1297088	C C	CGGAACCC others(380): Show CGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGA CCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCGTACAGTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03041.hp1 others(2): Show HG01891.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0004 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0004 a0002c0003t0002 a0002c0003t0005	a0001c0001t0002g0032 a0001c0002t0004g0063 a0002c0003t0002g0006 others(2): Show a0001c0001t0002g0032 a0001c0002t0004g0063 a0002c0003t0002g0006 a0002c0003t0005g0005 a0002c0003t0005g0138	5	146	0.0342	387	c.810 others(404): Show c.810+1666_810+1667insGTCTCCTACTCATGACCCCTGGCAGAAC CCTACAGTCCCCTACTCACGACCCGTACAGTCTCCTACCCATGACCCCTG GCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATG ACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAG CCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTA CAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACG ACCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297819	G G	GAACCCTA others(380): Show GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACC CCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACC CATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACGCC TACAGTCTCCTACTCCTGACCCCTGGAGTAACCCTACAGTCCCCTATTCA GGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAAC CCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03041.hp1 others(2): Show HG01891.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0002 a0002c0003t0002 a0002c0003t0005 others(1): Show a0001c0001t0002 a0002c0003t0002 a0002c0003t0005 a0002c0004t0004	a0001c0001t0002g0032 a0002c0003t0002g0006 a0002c0003t0005g0005 others(2): Show a0001c0001t0002g0032 a0002c0003t0002g0006 a0002c0003t0005g0005 a0002c0003t0005g0138 a0002c0004t0004g0011	5	122	0.0410	387	c.810 others(404): Show c.810+2395_810+2396insGTCTCCTACTCATGACCCCTGGAGTAAC CCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTG GCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATG ACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACGCCTACAGTCTCCT ACTCCTGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGT GTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCC CTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTA CAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACG ACCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(380): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTAC CCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGT CCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCC TGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATG ATGAACGGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACG GTGTCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTC AATAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTA CCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0001 a0002c0077t0001	a0002c0077t0001g0016 a0002c0077t0001g0016	1	116	0.0086	387	c.134 others(408): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGA CACGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGG TACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATT GAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGACAC TATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCGTTCAT CATTGGAGGGGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGA GGAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGG ACACGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113262779	A A	ACTTATAC others(380): Show ACTTATACGTGCTCTTACTGATGGCAGATGTCGGGTCTGCCTCGCTTATA CGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCC TTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGA TGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGG TCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCT CGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTAT ACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02886.hp1 others(1): Show HG01496.hp1 HG01884.hp1 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0006 a0001c0005t0017 a0001c0012t0004 a0001c0005t0006 a0001c0005t0017 a0001c0012t0004	a0001c0005t0006g0343 a0001c0005t0006g0344 a0001c0005t0017g0115 others(1): Show a0001c0005t0006g0343 a0001c0005t0006g0344 a0001c0005t0017g0115 a0001c0012t0004g0034	4	377	0.0106	387	c.218 others(404): Show c.2185-697_2185-696insTCTTACTGATGGCAGATGTCGGGTCTGC CTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTT ATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTG CCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGC TGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGC AGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTC GGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTG CCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCT TATACGTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar

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