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
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(621): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACA TATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGA CATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGA CATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACA TTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATT ACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGT AGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACATTAC AAAACAGAGTGCCTGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	376	0.0027	628	c.331 others(645): Show c.331-2658_331-2657insATGTCTTTATCCTACAGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCC TACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTA ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACG GGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(621): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGC CCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02630.hp1 others(1): Show HG02451.hp2 HG02622.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0001 a0001c0003t0012 a0001c0003t0037 others(1): Show a0001c0003t0001 a0001c0003t0012 a0001c0003t0037 a0001c0017t0022	a0001c0003t0001g0035 a0001c0003t0012g0129 a0001c0003t0037g0131 others(1): Show a0001c0003t0001g0035 a0001c0003t0012g0129 a0001c0003t0037g0131 a0001c0017t0022g0130	4	373	0.0107	628	c.654 others(643): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(621): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGC CCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	373	0.0027	628	c.654 others(643): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGGAG others(621): Show GGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAG AGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAG CGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAG GGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGAGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGG TGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGG AGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGG AGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAG GGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAG GGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0006 a0009c0031t0006	a0009c0031t0006g0084 a0009c0031t0006g0084	1	132	0.0076	628	c.227 others(647): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCCTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCTCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCC TC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(621): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTC TCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAGGAGGG AGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACACTGAG ATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGCCTGCA GTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCCAGGAA GTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCAAGGTG ACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCAACCAATT TCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTTTAAA AACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATAACGT GTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTGCCTA GCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01496.hp2 others(5): Show HG00738.hp1 HG01081.hp2 HG01496.hp2 HG02132.hp2 HG02615.hp2 NA18963.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0002g0092 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0002g0092 a0001c0002t0001g0053 a0001c0002t0002g0010 a0001c0002t0002g0070 a0002c0003t0001g0099 a0002c0004t0001g0098	8	150	0.0533	628	c.531 others(647): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAAGC AGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATGATCA TAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGCTTCA GC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACACATCA others(621): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCA CAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	392	0.0026	628	c.228 others(645): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(621): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACAT CAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0384 a0001c0024t0001g0384	1	392	0.0026	628	c.228 others(647): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(621): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	256	0.0039	628	c.924 others(645): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGACAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(621): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG00735.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0205 a0001c0001t0001g0215	2	256	0.0078	628	c.924 others(645): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(621): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	628	c.-27 others(639): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(621): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01081.hp1 others(9): Show HG00408.hp1 HG00741.hp1 HG01081.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0002t0002g0004	12	434	0.0277	628	c.-27 others(639): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMC6_chr17_78102397_78133755	78115847	G G	GGGGCGAA others(621): Show GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0235 a0004c0006t0001g0235	1	444	0.0023	628	c.227 others(647): Show c.2277+1421_2277+1422insCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747713	G G	TCTGGGGT others(621): Show TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0091 a0002c0002t0031g0091	1	314	0.0032	628	c.189 others(640): Show c.189-613delGinsTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(621): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATTATATATATATAAAAATTATATATATAT TATATATATAAAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18974.hp1 NA19088.hp1 NA18944.hp2 NA18974.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	272	0.0110	628	c.28 others(639): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(621): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	272	0.0037	628	c.28 others(639): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(621): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATAAAA ATTATATATATTATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAATTATATATATAATATATATAT AAAAATTATATATATAATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT GTATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	272	0.0074	628	c.29 others(639): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATAAAAATTATAT ATATAATATATATATAAAAATTATATATATAATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTGTATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(621): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATACATAAAAATTATATAT ATATTATATATACATAAAAATTATATATATATTATATATACATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATAATATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	272	0.0037	628	c.29 others(639): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAC ATAAAAATTATATATATATTATATATACATAAAAATTATATATATATTAT ATATACATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATAATATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273431	A A	ATATATAT others(621): Show ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATAAAAATTATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATTATATATATATAAAAATTATATATATATTATATATA TAAAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTGTATATATATAAAAA TTATATATATATTATATATATATAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA19089.hp1 NA18946.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0071 a0001c0001t0002g0030 a0001c0001t0002g0071	2	272	0.0074	628	c.29 others(639): Show c.2996_*2997insTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATAAAAATTATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATAAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT GTATATATATAAAAATTATATATATATTATATATATATAAAAAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2318		chr11	TogoVar
VCX3B_chrX_8459830_8471510	8466993	T T	TGGTGTGT others(621): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0008 a0009c0009t0007g0008	1	271	0.0037	628	c.61 others(637): Show c.610_*611insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		484		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	408	0.0025	628	c.53+ others(643): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(621): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATTAGAATATA TATTATACAATAATAATATAATATATATTATACAATAATAATATAATATA TATATAATTATATAATATAATATATATAATAATAATATAATATAATATAT AATATATATTATATAGTAATAATATAATATAATATATAATATATATTATA TAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	218	0.0046	628	c.55+ others(643): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTACTATATAATATATATTA TATATTATATTATATTATTATTATATATATTATATTATATAATTATATAT ATATTATATTATTATTGTATAATATATATTATATTATTATTGTATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATACTATATTATATAATTATTATATATATTATATTATTAT TATATAATATATATTATATATTATATTAATTATATAATATATATTATATA TTATATTAATTATATAATATATCTTATATTATTATTATATAATATATATT ATATATTATATTAATTATATAATATATCTTATATTATTATTATATAATAT ATGTTATATATTACATTATTATTATATAATATACATTATATTATTATATA ATGTATATTATATATTATATTATTATATATAATATATATTATATATTATA TATTATATATAATATATATTATATATTATATATTATATTATATAATTATT ATATATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ACCACCAT others(621): Show ACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAG CATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCA TCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACT ACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAG CATCACTATCTCTATACCCACCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18968.hp2 NA18966.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0097 a0001c0001t0001g0107	2	228	0.0088	628	c.127 others(645): Show c.1272+892_1272+893insCCACCATCACCACTACCACCACCATTAT CACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC TCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTAT CACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCA CCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGC ATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTAC CACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCA TTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTC ATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATT ATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCAC CACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCT TTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6			chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ACCACCAT others(621): Show ACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAG CATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCA TCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACT ACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAG CATCACTATCTCTATACCCACCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGTCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19088.hp1 NA18973.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	228	0.0088	628	c.127 others(645): Show c.1272+892_1272+893insCCACCATCACCACTACCACCACCATTAT CACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC TCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTAT CACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCA CCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGC ATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTAC CACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCA TTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTC ATCACCATCATCGTCACCACCGCGCCACCACCATCACTGTCACCACTATT ATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCAC CACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCT TTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6			chr14	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA18943.hp1 NA18945.hp2 others(3): Show HG02735.hp1 NA18943.hp1 NA18945.hp2 NA19062.hp1 NA19066.hp1 NA19081.hp1	a0003 a0027 a0003 a0027	a0003c0004 a0027c0028 a0003c0004 a0027c0028	a0003c0004t0003 a0027c0028t0003 a0003c0004t0003 a0027c0028t0003	a0003c0004t0003g0002 a0003c0004t0003g0060 a0003c0004t0003g0063 others(2): Show a0003c0004t0003g0002 a0003c0004t0003g0060 a0003c0004t0003g0063 a0003c0004t0003g0091 a0027c0028t0003g0002	6	431	0.0139	628	c.14 others(639): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGAAAGGA others(621): Show GGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGAA GGAGGGAGGGAGGAAAGGAAGGGAGAGGAGGAGGGAGTGAGGGAAGGAAG GGAGGGGAGGGAGGTAGGCAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAG GGAGGAGGGAAGGGAGGGAGGGAGGGAGGGGGGAGAGGGAGGGAAGGGAG GGAGGGGAGGGAAGGGGGGGAGGGAGGAGGAGGAAGTGAGGGGAGGGAGG GAGGAAGTGAGGGGGAGGGGGAAGGCAGGAGGGAGGGGAGGGAGGGAGGG AGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGAGCGAGGGAGGGA AGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAGGGGA GGGAAGGGGAGGGAGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGGAGGGAGGGAGGAGGCAGGGAGGGGAGGGAGGGAG GGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGG GAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATG AAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0280 a0002c0007t0002g0280	1	290	0.0035	628	c.205 others(647): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTCCTCCCTCCCTCCCCTCCCCTCAC TTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCTCCCTCCCCTT CCCTCCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTG CCTTCCCTCCCTCGCTCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCTCCCTCCCTCCCTCCCCTCCCTCCTGCCTTCCCCCTCCCCCTCACTTC CTCCCTCCCTCCCCTCACTTCCTCCTCCTCCCTCCCCCCCTTCCCTCCCC TCCCTCCCTTCCCTCCCTCTCCCCCCTCCCTCCCTCCCTCCCTTCCCTCC TCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCTGCCTACCTCCCTCCCC TCCCTTCCTTCCCTCACTCCCTCCTCCTCTCCCTTCCTTTCCTCCCTCCC TCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTT TC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	629	c.-10 others(640): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	629	c.-10 others(640): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(622): Show AACCACCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACC ACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACAGACAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGACACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0012 a0001c0003t0016g0012	2	368	0.0054	629	c.401 others(646): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCCCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG G	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(622): Show CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACAACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGG CACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGA CAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACA GACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	368	0.0027	629	c.401 others(646): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACG GGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCT GCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACAGACACCTCCCTCCT AATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTC CAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA C	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(622): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCT CCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	262	0.0038	629	c.106 others(648): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(622): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTTCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCT CCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	262	0.0038	629	c.106 others(648): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAAAAGACAGAAAGGGAGGGAGAGAGGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(622): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATATTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATATTTTTATATAA AATATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTATC ATATGCCATGATATACGTATATTATACATCATATATAAAAACATATTTTT ATATAAAATATCAGTATTTTATGTATACTATATGTGCTATATGATATACA CGTATCATATGCCATGATATACGTATATTATACATCATATATAAAAACAT ATTTTTATATAAAATTATCAGTATTTTATGTATATTATATGTGCTATATG ATATACACGTATCATATGCCATGATATACGTATATTATACATCATATATA AAAACATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	350	0.0029	629	c.181 others(646): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATAATTTTATATAAAA ATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATA CGTGTATATCATATAGCACATATAGTATACATAAAATACTGATATTTTAT ATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCAT ATGATACGTGTATATCATATAGCACATATAATATACATAAAATACTGATA TTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCA TGGCATATGATACGTGTATATCATATAGCACATATAATATACATAAAATA CTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGT ATATCATGGCATATGATACGTGTATATCATATAGCACATATAATATACAT AAAATACTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAAT ATACGTATATCATGGCATATGATACGTGTATATCATATAGCACATATCAT A	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19077.hp1 HG02698.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0237 a0001c0001t0002g0195 a0001c0001t0002g0237	2	292	0.0069	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0190 a0001c0001t0012g0190	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	292	0.0034	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGTGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112804045	C C	CCTCCTTT others(622): Show CCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCC TCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCT GCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCAT TCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCAT TCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCC CCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCC CTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0177 a0003c0007t0005g0177	1	254	0.0039	629	c.163 others(644): Show c.163-912_163-911insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTT CTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTT CTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTC CCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCT TTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCT CCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCC TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
C2CD4C_chr19_400445_414147	410846	G G	GTCTGTCC others(622): Show GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGATCTGTCCACCGTCACTGCTGGGCACGGATCCTTGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	322	0.0031	629	c.-18 others(640): Show c.-1882_-1881insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCAAGGATCCGTGCCCAGCAGTGACGGTGGACAGATCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGAC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1700		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(622): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCT GGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGG GCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	322	0.0031	629	c.-23 others(640): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTG CCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C4orf19_chr4_37448925_37598510	37585565	A A	AGGGGAGA others(622): Show AGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGG GGGAGAGGAGAGATTCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGGG AGAGGAAAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGAGGTATGAGGGTG GGGAGGGAGAGGAGAGTGTTTGAGGGAAGAGAGGAGAGGTGTGAGGGAGG GTGAGGAGGAGAGGTGTTGAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0128 a0002c0002t0011g0128	1	354	0.0028	629	c.-22 others(646): Show c.-22-3268_-22-3267insATATCGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAG GGGAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGG AGGGGAGGGGGAGAGGAGAGATTCGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGAGGTA TGAGGGTGGGGAGGGAGAGGAGAGTGTTTGAGGGAAGAGAGGAGAGGTGT GAGGGAGGGTGAGGAGGAGAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGA G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(622): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATATAAAATTATATATATAATTATATATA TATTATATATAATTATATATATATATTATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTTTATA TATATATAATTATATATATAATTTTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA ATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18747.hp1 HG02523.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0169 a0001c0001t0001g0178	2	330	0.0061	629	c.907 others(644): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATATAAATATATATAATTATATATATAAAATTATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATAAATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(622): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATATAATTTT ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATATAATTATATATATAATTATATATATAATTTTATATAT AATTATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATATAT AATTATATATATTATATAATTTTATATATATAATTATATATATTATATAA TTATATATATAATTTTATATATATATAATTATATATACAATTTTATAATA TATATAATTATATATACAATTATATATATATATAATTATATATATATAAT TGTATATATAATTTTATATATATAATTATATATAATTTTATATATATATA ATTATATATATAATTATATATATATAATTATATATATTTATATATATATA TAATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATA ATTATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	330	0.0030	629	c.907 others(644): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATATAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(622): Show GGCCCACCTTCCTGCCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCCCACCTTCCTGCCCCCCTCGCCTGCCACGGCCCACC TTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCC ACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACC TTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCC ACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACC TTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCC ACGGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCTCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCCTCGCCTGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCA CAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0043 a0001c0059t0001g0043	1	284	0.0035	629	c.411 others(646): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCAGGCGAGGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGAGCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCC GTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGG AAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGG AAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGG AAGGTGGGCCGTGGCAGGCGAGGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGGCAGGAAGGTGGG C	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(622): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTTA TATATACTACTATATATACTACTATATATAGTATATACTATATATACACT ATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTATAT ACTATATATACACTATATATAGCATATATACTATATATACACTATATATA GTAGTTATATATACTATATATACACTATACATACACTATATATAGTTTAT ATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTTTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0364 a0001c0012t0001g0364	1	396	0.0025	629	c.349 others(644): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTAT ATACTATATATACACTATATATAGCATATATACTATATATACACTATATA TAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTTT ATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTTTATATATATACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(622): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	256	0.0039	629	c.-45 others(650): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCC TCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065079	G G	GTGATAGT others(622): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTA TTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGAT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0278 a0001c0009t0075g0278	1	334	0.0030	629	c.-25 others(640): Show c.-2563_-2562insTCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCATCA CCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCTTAATACT ATCATCACCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2214		chr11	TogoVar

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Search Results (Total: 10000 hits)