Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(538): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGTA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATATGG TATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTAT ATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTATA TATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATATGT GTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(121): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp2 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0002c0003t0003 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(70): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0005g0040 a0001c0001t0005g0142 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0151 a0001c0002t0002g0164 a0002c0003t0003g0008 a0002c0003t0003g0121 a0002c0003t0003g0167 a0003c0005t0001g0042 a0003c0005t0001g0179	124	362	0.3425	545	c.-50 others(556): Show c.-5086_-5085ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(538): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGTA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATATGG TATATATATGTTTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTAT ATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTATA TATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATATGT GTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18966.hp2 NA19065.hp2 NA18948.hp1 NA18966.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0180 a0001c0001t0001g0013 a0001c0001t0001g0180	3	362	0.0083	545	c.-50 others(556): Show c.-5086_-5085insTATATATACCATATTATATATATATACCATATAT ACACACACACACACATATATATACCATATTATATATATACCATATATACA CACACACATATATATACCACATTATATATATATACCATATATACACACAC ACACACATATATATACCATATTATATATATATACCATATATACACACACA CACACTATATATACCATATTATATATATATACCATATATACACACACACA AACATATATATACCATATTATATATATATACCATATATACACACACACAT ATATATACCATATTATATATATATACCATATACACACACATATATATACC ATATTATATATATATACCATATACACACACACATATATATACCATATTAT ATATATACCATATACACACACACACACATATATATACCATATTATATATA TATACCATATATACACACACACACACATATATATACCATATTATATATAT ATACCATATACACACACACACACATATATATACCATATTATATATATATA CCATATACACA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(538): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGTA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTATATATGGTGTATATATATAATATGG TATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTAT ATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTATA TATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATATGT GTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	362	0.0028	545	c.-50 others(556): Show c.-5086_-5085insTATATATACCATATTATATATATATACCATATAT ACACACACACACACATATATATACCATATTATATATATACCATATATACA CACACACATATATATACCACATTATATATATATACCATATATACACACAC ACACACATATATATACCATATTATATATATATACCATATATACACACACA CACACTATATATACCATATTATATATATATACCATATATACACACACACA CACATATATATACCATATTATATATATACACCATATATACACACACACAT ATATATACCATATTATATATATATACCATATACACACACATATATATACC ATATTATATATATATACCATATACACACACACATATATATACCATATTAT ATATATACCATATACACACACACACACATATATATACCATATTATATATA TATACCATATATACACACACACACACATATATATACCATATTATATATAT ATACCATATACACACACACACACATATATATACCATATTATATATATATA CCATATACACA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(538): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTGTATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGTA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATATGG TATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTAT ATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTATA TATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATATGT GTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18959.hp1 NA18977.hp2 others(5): Show HG02080.hp1 NA18959.hp1 NA18977.hp2 NA19004.hp2 NA19012.hp1 NA19054.hp2 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0163	8	362	0.0221	545	c.-50 others(556): Show c.-5086_-5085insTATATATACCATATTATATATATATACCATATAT ACACACACACACACATATATATACCATATTATATATATACCATATATACA CACACACATATATATACCACATTATATATATATACCATATATACACACAC ACACACATATATATACCATATTATATATATATACCATATATACACACACA CACACTATATATACCATATTATATATATATACCATATATACACACACACA CACATATATATACCATATTATATATATATACCATATATACACACACACAT ATATATACCATATTATATATATATACCATATACACACACATATATATACC ATATTATATATATATACCATATACACACACACATATATATACCATATTAT ATATATACCATATACACACACACACACATATATATACCATATTATATATA TATACCATATATACACACACACACACATATATACACCATATTATATATAT ATACCATATACACACACACACACATATATATACCATATTATATATATATA CCATATACACA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(538): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	256	0.0039	545	c.-45 others(566): Show c.-455+14589_-455+14590insCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132823015	T T	TGTGCTGT others(538): Show TGTGCTGTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGACGTGTG CTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGC TGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGAT GTGTGCTGTCTGTGCGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGT GTGCGCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGAT GTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGAT GTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTG TGTGTGCACTTGTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGT GTGTGCTGATGTGTGCACTGTGTGCTGTGTGCGGTGATGTGTGCTGTGTG TGCGCTGATGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGAT GTGTGCACTGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0064 a0064	a0064c0101 a0064c0101	a0064c0101t0002 a0064c0101t0002	a0064c0101t0002g0022 a0064c0101t0002g0022	1	246	0.0041	545	c.711 others(564): Show c.7118-8102_7118-8101insTGCACACACAGCACACATCACCACAC ACACAGCACACAGTGCACACATCAGCACACATCAGCACTCACACAGCACA CATCAGCACACATCAGCGCACACACAGCACACATCACCGCACACAGCACA CAGTGCACACATCAGCACACACAGCACACAGCACACATCAGCACACACAC AGCACACACAAGTGCACACACAGCACACATCAGCACTCACACAGCACACA TCACTGCACACACAGCACACATCAGCACACACAGCACACATCAGCACACA TCAGCACTCACACAGCACACATCAGCACACACAGCACACACAAGCGCACA CACAGCACACATCAGCGCACACACAGCACACATCAGCACTCACACAGCAC ACAGCGCACAGACAGCACACATCAGCACTCACACAACACACAGCACACAT CAGCACTCACACAGCACACAGCACACACACAGCACACATCAGCGCACACA CAGCACACGTCAGCACACAGCACACGTCAGCACACATCAGCACACAGCAC ACATCAGCACACACAGCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(538): Show GGAGTGTGTGTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCG TATGGGTGTGTGTGAGTATGGGTGTGTATGGGAGAGTGTGTGTGTTTGGG AGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAGTGTGAGTATG GGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTG TATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTG TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT ATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTGT ATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG02723.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0291 a0002c0002t0002g0292 others(4): Show a0002c0002t0002g0265 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0299	7	336	0.0208	545	c.341 others(562): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCCAT ACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTCCC ATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCATA CTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA CTCCCATACACACACACCCATACTCACACTCATACACACACTCCCATACA CACACATACCCATACACTCCCAAACACACACACTCTCCCATACACACCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(538): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC TGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATC CACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01361.hp2 HG01975.hp2 others(1): Show HG01074.hp1 HG01361.hp2 HG01975.hp2 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0279 a0002c0004t0002g0308 a0002c0004t0002g0309 others(1): Show a0002c0004t0002g0279 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311	4	348	0.0115	545	c.13 others(556): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCGTCCACCCATCCCCCCACCCATCC GTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCAC CCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(538): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0121 a0009c0010t0001g0121	1	367	0.0027	545	c.-42 others(556): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DFFB_chr1_3852476_3890429	3868686	C C	CAAGCCAC others(538): Show CAAGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCAAGC CACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACAC CACACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACAC CAGGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCACAC CACACCACGCCACACCACACCAGGCCACACCACACCACGCCACACCACAC CAGGCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGC CACGCCACACCAGGCCACACCACACCACGCCACACCACACCAGGCCACAC CACACCAGGCCACACCACACCACGCCACACCACACCACGCCACACCACAC CAGGCCACACCACACCACGCCACACCACACCAGGCCACACCACACCAGGC CACACCACACCACGCCACACCACACCACGCCACACCACACCAGGCCACAC CACACCACGCCACACCACACCACGCCACGCCACACCAGGCCACGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0154 a0001c0001t0010g0154	1	404	0.0025	545	c.510 others(560): Show c.510+634_510+635insAGCCACACCACACCAGGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCA GGCCACACCACACCACACCACACCACGCCACACCACACCAGGCCACACCA CACCACGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCA CGCCACACCACACCACGCCACGCCACACCAGGCCACACCACACCACGCCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCACACCACGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCA CACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCACGCCA CACCAGGCCACGCTA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(538): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	320	0.0031	545	c.39 others(556): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGT GCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGG GGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(538): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCG CACCCCCACCCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCG CACCCGCACCCCCCACCCCCACCCCACCCGCACCCCCACCCCCACCGCAC CCGCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCTCACCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCC CACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCCCACCCCCACCCGCACCCCCCACCCTCACCCGCACCCGCACCCCCAC CCTCACCCCCACCCTCACCCCCACCCTCACCCCCACCCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	320	0.0031	545	c.39 others(556): Show c.3972_*3973insGGGGTGGGGGGTGGGGGTGAGGGTGGGGGTGAGG GTGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGG GGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGGGGTGAGGGTGGGGGTGGGGGGTGGGGGTGCGG GTGGGGGTGCGGGTGCGGTGGGGGTGGGGGTGCGGGTGGGGTGGGGGTGG GGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGCGGGTGGGGGTGG GGGGTGGGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730279	G G	GGAAGGAG others(538): Show GGAAGGAGGGGAGGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGA TGGAGGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGA GGGACGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGG AGGGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGA GGGGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAG GGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGA AGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGG GAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAG GAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGG GAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAG GAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(35): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02074.hp2 HG02155.hp2 HG02451.hp1 HG02735.hp2 HG03209.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp1 NA18944.hp1 NA18961.hp1 NA18972.hp1 NA18979.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0018 others(2): Show a0001 a0003 a0018 a0019 a0028	a0001c0013 a0003c0003 a0018c0044 others(2): Show a0001c0013 a0003c0003 a0018c0044 a0019c0043 a0028c0041	a0001c0013t0001 a0003c0003t0001 a0003c0003t0008 others(3): Show a0001c0013t0001 a0003c0003t0001 a0003c0003t0008 a0018c0044t0001 a0019c0043t0001 a0028c0041t0001	a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 others(35): Show a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0003c0003t0001g0023 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0232 a0003c0003t0001g0284 a0003c0003t0008g0287 a0018c0044t0001g0221 a0019c0043t0001g0224 a0028c0041t0001g0189	38	290	0.1310	545	c.757 others(562): Show c.757+1419_757+1420insGCTCCCTTCCCTCCTTCCCTCCCTCCCT CCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCT CCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCT TCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC TCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCC CTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCC CTCCCTCCCTCCCGTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTC CCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTC CCTCCCTCCCCTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
FCMR_chr1_206898317_206926941	206924229	T T	TGTGTGTG others(538): Show TGTGTGTGGCGTGTGGCTATGAGTGTGTGTGCGCACTGTGGAGTGTGTGT GTGGTGTGTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGT GTGTGGCTATGAGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTC TGTGTGTGTGATTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTC TGTGGAGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTG TGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTA TGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTGTGTGCGCAC TCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGGTGT GTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATGTGT GTGTGATTGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTGTAGAGTG TGTAAGTGTGTGGCGTGTGGCTATGAGTGTGTGTGTGCACTGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	380	0.0026	545	c.-23 others(556): Show c.-2376_-2375insTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTTACACACTCTACAGAGCACACACACACTCATGGACACACACC ACACAATCACACACACATAACCACACACACACTAGACAGAGAACACACAC ACTCATAACTACACACCACACACTCACACACTCAACCACACACACACTAG ACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACCACGCAGT GACACACACTCATAACTACATACCACACACAACACATAGCACACACACAT AGCCACACACCACACATTCACACACACTCATAGCCACACACCACACATTC ACACACTCCACAGAGCACACACACACTCATGGACACACATCACACACACA ATCACACACACAGAACCACACACCACACACACTAGACAGAGCACACACAC TCATAGCCACACACCACACACACACTCCACAGAGCACACACACACTCATA GCCACACACCACACACACACTCCACAGTGCGCACACACACTCATAGCCAC ACGCCACACAC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2289		chr1	TogoVar
FLT4_chr5_180596506_180654600	180615445	C C	CACCGGTC others(538): Show CACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGG CCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAG CACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTG GGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCC GCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGG TCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGG CCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGA GCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACT GGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCC CCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	388	0.0026	545	c.321 others(562): Show c.3219+921_3219+922insAGGCCCAGTGCTCCGAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGG AGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTG ACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGA AGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGG AGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAG GGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGT GACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGA AGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAA GTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGA GAAGGGAGGTGACCGGT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(538): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATACACTGTATATGTATATATAGTGTATATATACACTATATATA CACTATATAGTGTATATATAGTATATATATACTGTATATATACACTATAT ATACACTATATAGTGTATATATAGTATATATATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	204	0.0049	545	c.114 others(564): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACAGTATATATATAC TATATATACACTATATAGTGTATATATAGTGTATATATACACTATATATA CATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTA TAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATATA CACTATATATACATATACAGTGTATAGTGTATATATACACTATATATACA TATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATA TATAGTGTATATATACACTATATATACATATACAGTGTATATATACACTA TATATACACTATATATGTATATATATACATATATAGTGTATATATAGTGT ATATATACTATATATATAGTGTATATATACTATATATATAGTGTATATAC ACTATATATATAGTGTATATATACTATATATAGTGTATATATACTATACA TATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT17_chr7_71127144_71718599	71680263	C C	CCTCTCTC others(538): Show CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCCCTGTCTTCCTCCCCTCCCTCTCTCCCTTCCTCCCT CCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGT CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGT CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	76	0.0132	545	c.150 others(564): Show c.1500+2960_1500+2961insTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCT CTTCCTCCCTCCCTCTCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(538): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	188	0.0053	545	c.109 others(566): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
HLA-DOA_chr6_32999182_33014591	33014313	A A	AGTTTGGA others(538): Show AGTTTGGAGCAACTACATCATTTGGAGCAACAATTCCAAATGATGGTAGG AAAACCCCAAAATTGGCCATCGAAAGGCATAGATACAGCCCTTCCTGTTT AAAAGAGGTATTTTTGAAAAACTTCAAATGTCTTCTGGGAAAGGCACAAT CTTTCACGGTTTCTTCTCTTCCCCCTCTCCCTCCCCCTTTTGGGAATGAC ATCCTGGGGCAGAGGATGAACTTACAGAGCGTGCTGGCTGTGGGAAGCTG GGTCTAGGTGGCATTTTTTCTCTTTTCTGATGGTTCTCTGCCCCCAGTTC CTTGGCCTGTCCCCATCGCTCGCCAACATTTCCGTGGCTGGTCTAATCTG TGATCGATTATCCCTGATGAAGGCAGTGGGGCTCAGCCACCTTGCCTGCT GGTGGCCCCAGCGTGGCTCTACTACTACTCACATCCTTCCAGTTTGGCGA GGGTGCAGCCTGATCCTGGGCCCGTGTGTTCTGGGCTGTGGCCCCTGGCT CCAGGCCAGTTCAAGCCTCTCCATGACCATCCTGAACACCAATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02486.hp2 others(3): Show HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0096 a0001c0001t0021 a0001c0001t0096	a0001c0001t0021g0017 a0001c0001t0096g0074 a0001c0001t0021g0017 a0001c0001t0096g0074	6	471	0.0127	545	c.-47 others(556): Show c.-4778_-4777insAAAATTGGTGTTCAGGATGGTCATGGAGAGGCTT GAACTGGCCTGGAGCCAGGGGCCACAGCCCAGAACACACGGGCCCAGGAT CAGGCTGCACCCTCGCCAAACTGGAAGGATGTGAGTAGTAGTAGAGCCAC GCTGGGGCCACCAGCAGGCAAGGTGGCTGAGCCCCACTGCCTTCATCAGG GATAATCGATCACAGATTAGACCAGCCACGGAAATGTTGGCGAGCGATGG GGACAGGCCAAGGAACTGGGGGCAGAGAACCATCAGAAAAGAGAAAAAAT GCCACCTAGACCCAGCTTCCCACAGCCAGCACGCTCTGTAAGTTCATCCT CTGCCCCAGGATGTCATTCCCAAAAGGGGGAGGGAGAGGGGGAAGAGAAG AAACCGTGAAAGATTGTGCCTTTCCCAGAAGACATTTGAAGTTTTTCAAA AATACCTCTTTTAAACAGGAAGGGCTGTATCTATGCCTTTCGATGGCCAA TTTTGGGGTTTTCCTACCATCATTTGGAATTGTTGCTCCAAATGATGTAG TTGCTCCAAAC	HLA-DOA	ENSG00000204252.14	transcript	ENST00000229829.7	protein_coding		4723		chr6	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(538): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAG GGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02572.hp2 HG02922.hp2 others(2): Show HG01346.hp2 HG02572.hp2 HG02922.hp2 HG03041.hp1 NA19043.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0003c0046 a0005c0013 a0003c0005 a0003c0046 a0005c0013	a0003c0005t0019 a0003c0005t0028 a0003c0046t0001 others(1): Show a0003c0005t0019 a0003c0005t0028 a0003c0046t0001 a0005c0013t0001	a0003c0005t0019g0226 a0003c0005t0028g0228 a0003c0046t0001g0229 others(2): Show a0003c0005t0019g0226 a0003c0005t0028g0228 a0003c0046t0001g0229 a0005c0013t0001g0250 a0005c0013t0001g0251	5	282	0.0177	545	c.623 others(562): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCAGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(538): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03486.hp1 others(1): Show HG02109.hp2 HG03098.hp2 HG03486.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 others(1): Show a0001c0002 a0002c0001 a0003c0005 a0003c0017	a0001c0002t0002 a0002c0001t0008 a0003c0005t0023 others(1): Show a0001c0002t0002 a0002c0001t0008 a0003c0005t0023 a0003c0017t0002	a0001c0002t0002g0066 a0002c0001t0008g0067 a0003c0005t0023g0068 others(1): Show a0001c0002t0002g0066 a0002c0001t0008g0067 a0003c0005t0023g0068 a0003c0017t0002g0069	4	282	0.0142	545	c.623 others(562): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ISOC2_chr19_55447985_55466642	55448419	C C	CACACGCC others(538): Show CACACGCCGCAGAGACCACACATACACACACACACCACACACACACACCA CACACTGACCCTCCACACCACACACACGCCACACAGACCACACATACACA CACACGCCACACACACACACCACACACTGACCCCCCCACAACACACACAC GCCACACAGACCACACATACACACACACACCACACACACACACACCACAC ACACCACACATACACATACACCACACACTGACCCTCCACACCACACACGC CGCACAGACCACACATACACACACACACCACACACACACCACACATACAC ACACACACCACACACTGACCCTCCACACCACACACACGCCACACAGACCA CACATTACACACACACGCCACACACACACACCACACACTGACCCCCCCAC ACCACACACACGCCACACAGGCCACACATACACACACACACCACCCACAG ACCACACAAACACACACACCACACATACACACACACACCACACACACACA CACCACACACACCACACATACACATACACCACACACTGACCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	380	0.0026	545	c.48 others(556): Show c.4888_*4889insTGGAGGGTCAGTGTGTGGTGTATGTGTATGTGTG GTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGTGTATGTGTGGTGTGTG TGTTTGTGTGGTCTGTGGGTGGTGTGTGTGTGTATGTGTGGCCTGTGTGG CGTGTGTGTGGTGTGGGGGGGTCAGTGTGTGGTGTGTGTGTGTGGCGTGT GTGTGTAATGTGTGGTCTGTGTGGCGTGTGTGTGGTGTGGAGGGTCAGTG TGTGGTGTGTGTGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGTGTATGT GTGGTCTGTGCGGCGTGTGTGGTGTGGAGGGTCAGTGTGTGGTGTATGTG TATGTGTGGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGTGTATGTGT GGTCTGTGTGGCGTGTGTGTGTTGTGGGGGGGTCAGTGTGTGGTGTGTGT GTGTGGCGTGTGTGTGTATGTGTGGTCTGTGTGGCGTGTGTGTGGTGTGG AGGGTCAGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTATGTGTGGTCT CTGCGGCGTGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		4565		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(538): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCCTCTCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	545	c.-27 others(556): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGAGAGGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LCN15_chr9_136754634_136769518	136769383	C C	CCCCGCCA others(538): Show CCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGCCACCCCCCAT GCACTGCCCCCCCCGCCACCCCGCCACCCCCCATGCACTTCCCCCCCGCC ACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCCGCCACCCCCC ATGCACTGCCCCCCCCGACACCCCGCCACCCCCCATGCACTGCCCCCCCC GACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCC CATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCC GCCACCCCGCCACCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCC CATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCC GCCACCCCGCCACCCCCCATGCACTGCCCCCCCGCCACCCCGACACCCCC CATGCACTGGCCCCCCGCCACCCCGACACCCCTCCATGCACTGCCCCCCC GCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	545	c.-48 others(556): Show c.-4896_-4895insTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGG TGGCGGGGTGGCGGGGGGGCAGTGCATGGAGGGGTGTCGGGGTGGCGGGG GGCCAGTGCATGGGGGGTGTCGGGGTGGCGGGGGGGCAGTGCATGGGGGG TGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGGGTGTCGGGGG GGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGG TGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGGGTGTCGGGGG GGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGG TGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGTGTCGGGG GGGGCAGTGCATGGGGGGTGGCGGGGGTGTCGGGGGGGGCAGTGCATGGG GGGTGGCGGGGTGGCGGGGGGGAAGTGCATGGGGGGTGGCGGGGTGGCGG GGGGGGCAGTGCATGGGGGGTGGCGGGGTGTCGGGGGGGGCAGTGCATGG GGGGTGGCGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4866		chr9	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(538): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0225 a0001c0004t0002g0225	1	296	0.0034	545	c.368 others(562): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATG TAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(538): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATATATTATATATTATAATACATTTAATATAATTATATTATAGAT TATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATT ATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCATA ATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCTA TATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	545	c.-32 others(556): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATATTATATATTATATAATATATAATATAATTATATATTATATAATA TATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATAT AATATATAATATAATTATAGATTATATAATATATAATATAATTATATATT ATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATTA TATTATAATTATATAATATATAATATAATTATATATTATATAATTATATT CTATATAGAATATAATTATATATTATATAATTATATTATATATTATATAT AATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(538): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18939.hp1 NA18951.hp2 others(5): Show HG00673.hp2 NA18939.hp1 NA18951.hp2 NA18968.hp1 NA18970.hp1 NA18979.hp1 NA19004.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0025 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0029 a0001c0001t0050 a0001c0001t0052 a0001c0004t0006	a0001c0001t0002g0137 a0001c0001t0025g0138 a0001c0001t0025g0139 others(5): Show a0001c0001t0002g0137 a0001c0001t0025g0138 a0001c0001t0025g0139 a0001c0001t0029g0132 a0001c0001t0050g0131 a0001c0001t0052g0134 a0001c0004t0006g0135 a0001c0004t0006g0136	8	360	0.0222	545	c.57+ others(562): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGA TGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(538): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG02109.hp2 others(14): Show HG01358.hp2 HG01884.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0022 a0001c0001 a0002c0002 a0011c0022	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0002c0002t0004 a0002c0002t0040 a0011c0022t0004	a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 others(14): Show a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0282 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0014g0251 a0002c0002t0004g0140 a0002c0002t0004g0141 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0145 a0002c0002t0040g0146 a0011c0022t0004g0144	17	360	0.0472	545	c.57+ others(562): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGA TGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(538): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTG TGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG00642.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0323 a0002c0002t0001g0310 a0002c0002t0001g0323	2	360	0.0056	545	c.57+ others(562): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGG GGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGG GGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGA TGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(538): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(62): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01123.hp1 HG01256.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0012	a0001c0001 a0001c0004 a0003c0003 others(4): Show a0001c0001 a0001c0004 a0003c0003 a0003c0007 a0003c0020 a0009c0016 a0012c0026	a0001c0001t0003 a0001c0001t0023 a0001c0001t0024 others(16): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0024 a0001c0004t0027 a0003c0003t0003 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0003t0026 a0003c0003t0028 a0003c0003t0033 a0003c0003t0034 a0003c0003t0036 a0003c0003t0038 a0003c0003t0039 a0003c0007t0003 a0003c0020t0011 a0009c0016t0028 a0012c0026t0003	a0001c0001t0003g0062 a0001c0001t0023g0244 a0001c0001t0023g0245 others(61): Show a0001c0001t0003g0062 a0001c0001t0023g0244 a0001c0001t0023g0245 a0001c0001t0023g0252 a0001c0001t0024g0253 a0001c0004t0027g0059 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0023 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0029 a0003c0003t0003g0032 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0055 a0003c0003t0003g0063 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0071 a0003c0003t0003g0073 a0003c0003t0010g0013 a0003c0003t0010g0014 a0003c0003t0010g0028 a0003c0003t0010g0030 a0003c0003t0010g0065 a0003c0003t0011g0017 a0003c0003t0011g0018 a0003c0003t0011g0020 a0003c0003t0011g0027 a0003c0003t0011g0043 a0003c0003t0011g0061 a0003c0003t0011g0067 a0003c0003t0013g0042 a0003c0003t0013g0051 a0003c0003t0013g0054 a0003c0003t0013g0057 a0003c0003t0013g0064 a0003c0003t0013g0077 a0003c0003t0026g0072 a0003c0003t0026g0082 a0003c0003t0028g0016 a0003c0003t0033g0019 a0003c0003t0034g0024 a0003c0003t0036g0033 a0003c0003t0038g0021 a0003c0003t0039g0078 a0003c0007t0003g0002 a0003c0007t0003g0060 a0003c0020t0011g0022 a0009c0016t0028g0015 a0012c0026t0003g0076	65	360	0.1806	545	c.57+ others(562): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGA TGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(538): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGTTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0003 a0003c0013t0003	a0003c0013t0003g0056 a0003c0013t0003g0056	1	360	0.0028	545	c.57+ others(562): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGTTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGA TGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(538): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATAAAATCT TATTTTATATATTATATATATATAAAATCTTATTTTACATATATTTTATA TATATAAAATCTTATTTTACATATATTTTATATATATAAAATCTTATTTT ACATATATTTTATATATATAAAATCTTATTTTACATATATTTTATATATA TAAAATCTTATTTTACATATATTTTATATATATAAAATCTTATTTTACAT ATATTTTATATATATAAAATCTTATTTTACATATATTTTATATATATAAA ATCTTATTTTACATATATTTTATATATATAAAATCTTATTTTACATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0067 a0001c0001t0045g0067	1	330	0.0030	545	c.-5+ others(560): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATGTAAAATAAGATTTTATATATATAAAAT ATATGTAAAATAAGATTTTATATATATAAAATATATGTAAAATAAGATTT TATATATATAAAATATATGTAAAATAAGATTTTATATATATAAAATATAT GTAAAATAAGATTTTATATATATAAAATATATGTAAAATAAGATTTTATA TATATAAAATATATGTAAAATAAGATTTTATATATATAAAATATATGTAA AATAAGATTTTATATATATAAAATATATGTAAAATAAGATTTTATATATA TATAATATATAAAATAAGATTTTATATATATAATATATAAAATAAGATTT TATATATATAATATATAAAATATATATAAAATATGATTTTATATATATAA AAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250691	A A	AGAAGAAG others(538): Show AGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAG AAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGA GAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAG AAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAA GGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGA AGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAA GAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGG AGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAG AAGGAGAAGAAGGAGAAGAAGGAGAAGGAGGAGGAGGAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	294	0.0034	545	c.677 others(560): Show c.677+214_677+215insCCCCCTCCTCCTCCTCCTCCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCC TTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTT CTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCT TCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTC TCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTT CTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTC TTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTC CTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCC TTCTTCTCCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(538): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	356	0.0028	545	c.91+ others(558): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGG TGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(538): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGGTGTGTGTTGCTGTGTATGA GTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGTGT GTTGCTGTGTGTGTGAGTGCTGGTGTGTGCATGAGTGGTGTGTGTGTGGT GTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTGCATGAG TGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGTATGAGT GCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTGCTGTGT ATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGTATGTGT GGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02976.hp2 others(1): Show HG01891.hp1 HG01891.hp2 HG02976.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0015 a0001c0014 a0003c0015	a0001c0014t0003 a0003c0015t0005 a0001c0014t0003 a0003c0015t0005	a0001c0014t0003g0085 a0001c0014t0003g0086 a0003c0015t0005g0084 others(1): Show a0001c0014t0003g0085 a0001c0014t0003g0086 a0003c0015t0005g0084 a0003c0015t0005g0087	4	398	0.0101	545	c.507 others(560): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGGTG TGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGC TGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGAGTGCTGGTGTGTGCATG AGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGT TCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTT GCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGC GGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGT GTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGAT GTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCCTCCA others(538): Show TCCCTCCATCCATCCTCCCTCCCTCCATCATCCCTCCCTCCATCCCTCAT TCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTGCCTTCATC CATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATC CCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCT CCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCC TCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCC ATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02559.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0048 a0001c0008t0025 a0001c0001t0048 a0001c0008t0025	a0001c0001t0048g0213 a0001c0008t0025g0152 a0001c0001t0048g0213 a0001c0008t0025g0152	2	316	0.0063	545	c.916 others(560): Show c.916+696_916+697insCTCCATCCATCCTCCCTCCCTCCATCATCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCT TCATCTATCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCT CCATCCCTGCCTTCATCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCT CCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCT ATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTC CCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCAT CCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(538): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCTC CTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCC TCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCC TACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTG CCTTCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTC CTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCC TCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	350	0.0029	545	c.-15 others(556): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCC CTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCA CCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCT TCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCC TTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCC CTCCCTGCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCC TTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
P2RX5_chr17_3668227_3701155	3685978	T T	TCCCCCGC others(538): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCC CAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	362	0.0028	545	c.981 others(562): Show c.981+2033_981+2034insGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACG TTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTG GGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGT TCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTC CCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTT GGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGG CGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTC TCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGG GGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGA CGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGC TGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(538): Show TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	262	0.0038	545	c.129 others(562): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(538): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	262	0.0038	545	c.129 others(562): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(538): Show TTTCAGAATAGATCTTTTTGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	262	0.0038	545	c.129 others(562): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCA AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(538): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC CTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	394	0.0025	545	c.719 others(560): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIGR_chr1_206923522_206951466	206924229	T T	TGTGTGTG others(538): Show TGTGTGTGGCGTGTGGCTATGAGTGTGTGTGCGCACTGTGGAGTGTGTGT GTGGTGTGTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGT GTGTGGCTATGAGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTC TGTGTGTGTGATTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTC TGTGGAGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTG TGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTA TGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTGTGTGCGCAC TCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGGTGT GTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATGTGT GTGTGATTGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTGTAGAGTG TGTAAGTGTGTGGCGTGTGGCTATGAGTGTGTGTGTGCACTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0006 a0004c0004t0004g0006	1	402	0.0025	545	c.60 others(556): Show c.6088_*6089insTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTTACACACTCTACAGAGCACACACACACTCATGGACACACACC ACACAATCACACACACATAACCACACACACACTAGACAGAGAACACACAC ACTCATAACTACACACCACACACTCACACACTCAACCACACACACACTAG ACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACCACGCAGT GACACACACTCATAACTACATACCACACACAACACATAGCACACACACAT AGCCACACACCACACATTCACACACACTCATAGCCACACACCACACATTC ACACACTCCACAGAGCACACACACACTCATGGACACACATCACACACACA ATCACACACACAGAACCACACACCACACACACTAGACAGAGCACACACAC TCATAGCCACACACCACACACACACTCCACAGAGCACACACACACTCATA GCCACACACCACACACACACTCCACAGTGCGCACACACACTCATAGCCAC ACGCCACACAC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		4292		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(538): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGA AGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	188	0.0053	545	c.147 others(564): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTTCTT CTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTT CCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCC TTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTC CTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCC TTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTC TTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCT TCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTCTTTC TTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(538): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGA AGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGG AAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	188	0.0053	545	c.147 others(564): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTT CCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCC TTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTC CTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCC TTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTC TTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCT TCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTCTTTC TTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(538): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGAAG AAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03130.hp2 HG03225.hp1 HG01261.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0042 a0001c0002t0001g0179 a0001c0002t0001g0021 a0001c0002t0001g0042 a0001c0002t0001g0179	3	188	0.0160	545	c.147 others(564): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTTCTTCCTTCTTCC TTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTC CTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCC TTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTC TTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCT TCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTCTTTC TTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503801	G G	GAAGAAAG others(538): Show GAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGAA GGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAAGAAAAGGAAGAAGGAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAAAAG AAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAAGGAAGAAGAAGAAAGAAG AGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGGAG AAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAA GGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAG AAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGA AAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGG AAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAATGAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	188	0.0053	545	c.147 others(564): Show c.1473+1812_1473+1813insTTCATTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCC TTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCT TCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTC TTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTT CTTTCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTT CTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTT CTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTTTCTTCTTCTTTCTGC TTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTC TTCTTTCTATTTCTTTCTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKAG2_chr7_151551127_151882115	151855080	C C	CACACACC others(538): Show CACACACCACCCTCCACACACCACCCTCCACACACACCACTTTACACACA CGCCACCCTCCACACACCACCCTCCACACACACTTTACACACACACCGCC CTCCACACACGCCACCCTCCACACACACCACCCTCCACACACGCCACCCT CCACACACCACCTTCCACACACCACCCTCCACACACCACCCTCCACACAC ACCATCCACACACCGCCCTCCACACACCACCCTCCACACACACCACCCTC CACACACACCGCCCTCCACACACCACCCTCCACACACACCACTTTACACA CACGCCACCCTCCACACACCACCCTACACACACACTTTACACACACACCG CCCTCCACACATCACCCTCCACACACACCACTTTACACACACCACCCTCC ACACACCACCCTCCACACACACCGCCCTCCACACACCACCCTCCACACAC ACCACTTTACACACACGCCACCCTCCACACACCACCCTCCACACACACCA CTTTACACACACGCCACCCTCCACACACCACCCTACACACACACTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	252	0.0040	545	c.114 others(564): Show c.114+21426_114+21427insAAGTGTGTGTGTAGGGTGGTGTGTGG AGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGG TGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGCGGT GTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTAAAGTGGTGTGTGT GGAGGGTGATGTGTGGAGGGCGGTGTGTGTGTAAAGTGTGTGTGTAGGGT GGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGTGGTG TGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTG GAGGGCGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGT GTGTGGAAGGTGGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGTGTGT GGAGGGTGGCGTGTGTGGAGGGCGGTGTGTGTGTAAAGTGTGTGTGGAGG GTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGTGG TGTGTGGAGGGTGGTGTGT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(538): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCAATTCATTCA TTCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAGGCA GTGACCTAGGCTCTGGGGACAAAGTCGTGACGAAAACAAGCAAAACTCCT TTTCCTCGTGAAGCTTACTTTCTAGCATGAGAGTCAAACTGGAGACATCA ATTGTCAGGACAAAGGTGGTGGGAGGATAGATTTGTTTCTTTTGTTTGTT TATTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAAACAA ACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTTT GGGGTTGGGAGTGATGGCAAGAACACAGGGTAACCTGAGTCAGCGGTGTG TCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGCGAC ACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGGT CCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0014 a0008c0020t0002g0014	1	328	0.0031	545	c.164 others(562): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCAATTCATTCATTCATTCATTCATCCAACAAATACCATGGAAC ACCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGGACAAAGTCGTGACG AAAACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTTTCTAGCATGAGA GTCAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAGAT TTGTTTCTTTTGTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATCAT TTCAACTATAAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAGC AAGCAGGCAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGTA ACCTGAGTCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGA GTAGCCTACCTGTGCGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAGT TCCTTCAGCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGA GGGTCTCTATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAD51B_chr14_67814779_68483093	68356435	A A	AAAAAAAA others(538): Show AAAAAAAAAAAAAAAAAAAGTTATGTTTACACTCTACTCTATTAAAAGTG CAATAGTATTATATTTTTTAAAAACAATATAGATTACCTAAATTTAAAAT ACTTAATTGCTAAAAAAAAAATGCTAGGGATCATCGGAGCCTTCAGTGAG TTATAATCTTGCTGGTGAAGGGTCTTGCCTTAGTGTTGAAGGTTGCTGAC TGTTCAGGGGGTGGTTGCTGAAGGTTGGAGTGGCTGTAGCAATTTCTTAA AAAATGACAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCC TGGCTAACAGGGTGAAACCCCGTCTCTACTAAATAAATACAAAAAAATTA GCCGGGTGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCCGGAGGCTGAG GCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGT TGTGTCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 HG02615.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0005g0033 a0001c0001t0001g0034 a0001c0001t0005g0033	2	84	0.0238	545	c.854 others(564): Show c.854-54971_854-54970insGTTATGTTTACACTCTACTCTATTAA AAGTGCAATAGTATTATATTTTTTAAAAACAATATAGATTACCTAAATTT AAAATACTTAATTGCTAAAAAAAAAATGCTAGGGATCATCGGAGCCTTCA GTGAGTTATAATCTTGCTGGTGAAGGGTCTTGCCTTAGTGTTGAAGGTTG CTGACTGTTCAGGGGGTGGTTGCTGAAGGTTGGAGTGGCTGTAGCAATTT CTTAAAAAATGACAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGAC CATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAATAAATACAAAAA AATTAGCCGGGTGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCCGGAGG CTGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCC GAGGTTGTGTCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)