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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Select column to sort.

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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
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(569): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0168 a0001c0011t0001g0168	1	295	0.0034	576	c.50 others(587): Show c.5014_*5015insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(569): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAA GGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02895.hp2 HG01099.hp2 HG02895.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0008 a0001c0025t0008	a0001c0025t0008g0077 a0001c0025t0008g0208 a0001c0025t0008g0077 a0001c0025t0008g0208	2	228	0.0088	576	c.259 others(597): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTT TCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCC TTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(569): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGA GAGAAGGAAAGGATGGGAGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGG GTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0056 a0003c0006t0001g0056	1	228	0.0044	576	c.259 others(597): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCC CACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCTCCCATCCTTTCCTT CTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATC CCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCA TCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AHRR_chr5_316714_443285	397876	C C	CCCTGACC others(569): Show CCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATC CACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCT GACCATCCATGTTAGCCCCTGACCATCCATGTAGCCCCTGACCATCCACG TAGCCCCTGACCATCCACATAGCTCCTGACCATCCACGTAGCCCCTGACC ATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGC CCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCC ACGTAGCTCCTGACCATCCACGTAGCTCCTGACCGTCCATGTTAGCCCCT GACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGT AGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACC ATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCT CCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCC ACGTAGCTCCTGACCATCCACGTAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0020 a0014c0014t0020	a0014c0014t0020g0035 a0014c0014t0020g0035	1	268	0.0037	576	c.352 others(595): Show c.352-15392_352-15391insTCCTGACCATCCACGTAGCTCCTGAC CATCCATGTTAGCCCCTGACCATCCATGTAGCCCCTGACCATCCACGTAG CCCCTGACCATCCACATAGCTCCTGACCATCCACGTAGCCCCTGACCATC CACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCC TGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACG TAGCTCCTGACCATCCACGTAGCTCCTGACCGTCCATGTTAGCCCCTGAC CATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGC TCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACCATC CACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACG TAGCTCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCTGACC ATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(569): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	301	0.0033	576	c.125 others(597): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCC TCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCC TCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTC CCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTC CCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC CC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(569): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAG GAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	191	0.0052	576	c.132 others(591): Show c.1327-42_1327-41insAACTTAATTCTTCCTTCTTCATAGAAGGAA GAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTT CTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAA CTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTC ATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTA ATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAG AAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTC TTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGG AAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCC TTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA AACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCT TCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(569): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0077 a0001c0001t0093g0077	1	256	0.0039	576	c.39 others(585): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1920051	C C	CGTGGGTG others(569): Show CGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGAT GGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCT GTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATG GGGCTGTTCCATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCT GTGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGG AGCTGTTCTATGGGTGATGGGGCTGTTCTATGGGTGATGGAGCTGTTCTG TGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTATGGGTGATGGG GCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGT GGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGA GCTGTTCTATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTGT GGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTATGGGTGATGGGG CTGTTCCATGGGTGATGGAGCTGTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18963.hp1 NA19057.hp1 others(1): Show HG00423.hp2 NA18963.hp1 NA19057.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0112 others(1): Show a0001c0002 a0001c0004 a0001c0112 a0001c0118	a0001c0002t0001 a0001c0004t0005 a0001c0112t0017 others(1): Show a0001c0002t0001 a0001c0004t0005 a0001c0112t0017 a0001c0118t0008	a0001c0002t0001g0050 a0001c0004t0005g0299 a0001c0112t0017g0124 others(1): Show a0001c0002t0001g0050 a0001c0004t0005g0299 a0001c0112t0017g0124 a0001c0118t0008g0294	4	363	0.0110	576	c.214 others(595): Show c.2144-2830_2144-2829insGGTGATGAGCTGTTCTGTCAGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCC ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTA TGGGTGATGGGGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGA GCTGTTCTGTCAGTGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCCAT GGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGA GCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTAT GGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGAG CTGTTCTGTCAGTGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCCATG GGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAG CTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758861	C C	CCTAACTC others(569): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0031 a0001c0019t0001g0031	1	300	0.0033	576	c.654 others(595): Show c.654+22157_654+22158insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79308891	T T	TGAGGACT others(569): Show TGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCTGAGTAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATC CCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAA GGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGAGTGATCCTCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGA TCCCCAGCAGGTAGAAGGTCAGGGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0165 a0005c0009t0005g0166	2	298	0.0067	576	c.177 others(595): Show c.1773+1662_1773+1663insCTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCAGCAGGTAGAAGG TCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GALT1_chr2_167288001_167879045	167879010	T T	TTTGTTTT others(569): Show TTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0019 a0001c0001t0047g0019	1	118	0.0085	576	c.89 others(587): Show c.8990_*8991insTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTT TTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGC AATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCAT TTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		4966		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167879010	T T	TTTGTTTT others(569): Show TTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0055 a0001c0001t0046g0055	1	118	0.0085	576	c.89 others(587): Show c.8990_*8991insTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGC AATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCAT TTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		4966		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82970640	G G	GCACCCAG others(569): Show GCACCCAGCGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGC ACCCAGCGTGGACGCGACCTCCCCACCCAGCGTGGACGCGACCTCCGCAC CCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCC AGCGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCCCACCCAG CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGACGCGACCTCCCCACCCAGCGTGGACGCGACCTCCGCACCCAGCGTG GCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGC CGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCG CGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGTG ACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACACAGCGTGGCCGTGAC CTCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGTGTGGCCGTGACCT CTGCACACAGCGTGGCCGTGACCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0194 a0001c0003t0014g0194	1	266	0.0038	576	c.460 others(593): Show c.460-4895_460-4894insGGGAGGTCACGGCCACGCTGTGTGCAGA GGTCACGGCCACACTGGGTGCGGAGGTCACGGCCACACTGGGTGCGGAGG TCACGGCCACGCTGTGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTC ACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGC GGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGGTCGCGG CCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGCGGCC ACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGGGGAGGTCGCGTCCAC GCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGC TGGGTGGGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTG GGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGG TGCGGAGGTCGCGTCCACGCTGGGTGGGGAGGTCGCGTCCACGCTGGGTG CGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972034	C C	CGACCACA others(569): Show CGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGG CTAGAAGGACCTGGTACTGACCACACCACACCATGGGCCAGAAGGACCTG GTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACC ACACCACAGGGGATAGAAGGACCTGGTACTGACCACACCACACCACGGGC CAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGT GCCGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTG ACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACA CCACAGGGGCCAGAAGGACCTGGTGCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18945.hp1 HG02132.hp1 NA18945.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0026 a0001c0004t0002 a0001c0004t0026	a0001c0004t0002g0050 a0001c0004t0026g0046 a0001c0004t0002g0050 a0001c0004t0026g0046	2	266	0.0075	576	c.460 others(593): Show c.460-6289_460-6288insAGCACCAGGTCCTTCTGGCCCCTGTGGT GTGCTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTC AGTACTGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTC CTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCC TGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGT GTGGTCAGTACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGG CCCGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTG GTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(569): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCTGGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0001 a0001c0001t0076g0001	1	334	0.0030	576	c.-10 others(587): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCTG GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(569): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0034 a0002c0005t0034	a0002c0005t0034g0056 a0002c0005t0034g0056	1	360	0.0028	576	c.92- others(593): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGG CGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(569): Show AGCCTCCCCCGCTGGGCATTCCGGGTGCCCCAAGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGG CGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGG CCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTT CCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTC CCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0314 a0001c0001t0004g0316 a0002c0002t0002g0318 a0001c0001t0004g0314 a0001c0001t0004g0316 a0002c0002t0002g0318	3	360	0.0083	576	c.92- others(593): Show c.92-12357_92-12356insATTCCGGGTGCCCCAAGCCTCCCCCGCT GGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCC AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGG GCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG GCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(569): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGAGGCGAGGGCGGGACGGAGGGAGGGAGGGCGGGA CGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACG GAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGGAGGGGACGGACG GCGGGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGG GAGGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGG AGGGAGGGAGGGAGGGAGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGAGGGACGGAGGGGCGGGACGGAGGGAGGGAGG GCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAG GGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	410	0.0024	576	c.465 others(591): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCGTCCCTCCGTCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCCCGCCGT CCGTCCCCTCCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGT CCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCTCCCTCCGTCCCGCCCTCGCCTCCCTCCGTCCCGCCCTCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404665	T T	TGTGGGGG others(569): Show TGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTCAGGGGTGTG GGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGAGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGG AACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTC AGGGGTGTGGGGGGGAACGGGGTCCTGCCCTCAGGGGTGTGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGAGGGACGGGGTCCTGCCCTGAGGG GTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTC CTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCCGAGGGGTCT GAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCC TGCCCCGAGGGGTGTGGGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT GGGGGGGACGGGGTCCTGCCCTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0159 a0001c0001t0053g0159	1	322	0.0031	576	c.24 others(587): Show c.2430_*2431insCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCC TCAGGGCAGGACCCCGTCCCCCCCCCCCACACCCCTCGGGGCAGGACCCC GTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCC TCGGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAG GGCAGGACCCCGTCCCTCCCCCACACCCCTCAGGGCAGGACCCCGTCCCC CCCACACCCCTGAGGGCAGGACCCCGTTCCCCCCCACACCCCTGAGGGCA GGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACC CCGTCCCTCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACCC CTGAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGT CCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		779		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185810	G G	GGCGTAGG others(569): Show GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACAGGGCAGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0058 a0058	a0058c0069 a0058c0069	a0058c0069t0033 a0058c0069t0033	a0058c0069t0033g0049 a0058c0069t0033g0049	1	338	0.0030	576	c.300 others(593): Show c.300-9161_300-9160insCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGC GGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACAGGGCAGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(569): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTCCCACTATTTCCTCCCCCCACTACTCACCTTC CAACCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACT ATTTCCCCCCGACTACTCACCATCCAACCCTTCCACTATTTCCCCCCCAC TACTCACCATCCAACCCTCCCACTATGTCCTCTCCCACTACTCACCTTCC AACCCTCCTATTCCCCCCACTACTACTCACCATCCAACCCTCCCAGTACT CACCTTCCAACCCTCCCACTATTCCCCCCTACTACTCACCTTCCAACCCT TCCACTATTTCCCCACTACTACTCACCTTCCAACCCTCCCACTATTTCCT CCCTCCAACTACTCACCTTCCAACCCTCCTACTATTCCCCCGCTACTACT CACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACCTTCCAACCC TCCCACTATTCCCCCGCTACTACCTACCTTCCAACCCTCCCACTATTTCC TCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00639.hp1 others(38): Show HG00423.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01258.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03490.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18981.hp1 NA18984.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp1 NA19070.hp1 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0050 a0001c0001t0066	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0103 a0001c0001t0002g0219 a0001c0001t0005g0124 a0001c0001t0005g0181 a0001c0001t0007g0100 a0001c0001t0007g0126 a0001c0001t0007g0184 a0001c0001t0007g0197 a0001c0001t0008g0063 a0001c0001t0008g0138 a0001c0001t0009g0202 a0001c0001t0014g0123 a0001c0001t0020g0028 a0001c0001t0020g0052 a0001c0001t0050g0185 a0001c0001t0066g0022	41	242	0.1694	576	c.266 others(593): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(569): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACCATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTTTCTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	396	0.0025	576	c.349 others(591): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACCATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTTTCTATATATACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(569): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTTTCTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01074.hp2 others(17): Show HG00140.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02735.hp2 HG02970.hp2 HG03453.hp1 HG04184.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0035 a0001c0002t0003 a0001c0002t0033	a0001c0001t0001g0112 a0001c0001t0001g0156 a0001c0001t0001g0221 others(13): Show a0001c0001t0001g0112 a0001c0001t0001g0156 a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0154 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0360 a0001c0001t0002g0368 a0001c0001t0019g0098 a0001c0001t0035g0246 a0001c0002t0003g0011 a0001c0002t0003g0370 a0001c0002t0033g0328	20	396	0.0505	576	c.349 others(591): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTTTCTATATATACTATATATACTATATATAGTAGTTATA	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(569): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	256	0.0039	576	c.-45 others(597): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(569): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	256	0.0039	576	c.-45 others(597): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(569): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0219 a0001c0001t0018g0219	1	256	0.0039	576	c.-45 others(597): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61329409	A A	AGCATGCG others(569): Show AGCATGCGTGGAGGGCACCCAGGTCCTCATGGTTGCCTCGTGGGTCTGGG ACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCA TGCGTGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGC GGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCG TGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGT CGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGA GGGCACCCAGATCCTCATGGTTCCCCCATGGGTCTGGGACGCGGGTCGAG GTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGC ACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGG CTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCC AGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTT AAGCCCAGTGTGCTGCGGTGGATTGCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0105 a0002c0002t0022g0105	1	106	0.0094	576	c.169 others(595): Show c.169+74474_169+74475insATGCGTGGAGGGCACCCAGGTCCTCA TGGTTGCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGT GTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGT TCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGC TGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCCC TCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCG GTGGATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTTCCCCCAT GGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGG ATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGT CTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTG CAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGG GACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCGGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61329409	A A	AGCATGCG others(569): Show AGCATGCGTGGAGGGCACCCAGGTCCTCATGGTTGCCTCGTGGGTCTGGG ACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCG TGCGTGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGC GGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCG TGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGT CGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGA GGGCACCCAGATCCTCATGGTCCCCCCATGGGTCTGGGACGCGGGTCGAG GTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGC ACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGG CTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCC AGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTT AAGCCCAGTGTGCTGCGGTGGATTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0094 a0001c0020t0006g0094	1	106	0.0094	576	c.169 others(595): Show c.169+74474_169+74475insATGCGTGGAGGGCACCCAGGTCCTCA TGGTTGCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGT GTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGT TCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGC TGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCCC TCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCG GTGGATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTCCCCCCAT GGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGG ATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGT CTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTG CAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGG GACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCGGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61329409	A A	AGCATGCG others(569): Show AGCATGCGTGGAGGGCACCCAGGTCCTCATGGTTGCCTCGTGGGTCTGGG ACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCG TGCGTGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGC GGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCG TGGAGGGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGT CGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGA GGGCACCCAGATCCTCATGGTTCCCCCATGGGTCTGGGACGCGGGTCGAG GTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGC ACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGG CTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCC AGGTCCTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTT AAGCCCAGTGTGCTGCGGTGGATTGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0089 a0001c0001t0031g0089	1	106	0.0094	576	c.169 others(595): Show c.169+74474_169+74475insATGCGTGGAGGGCACCCAGGTCCTCA TGGTTGCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGT GTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGT TCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGC TGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCCC TCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCG GTGGATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTTCCCCCAT GGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGG ATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGT CTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTG CAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGG GACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCGGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(569): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03239.hp2 NA21309.hp2 HG01891.hp2 HG03239.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0018 a0001c0001 a0002c0002 a0011c0018	a0001c0001t0001 a0002c0002t0065 a0011c0018t0035 a0001c0001t0001 a0002c0002t0065 a0011c0018t0035	a0001c0001t0001g0244 a0002c0002t0065g0246 a0011c0018t0035g0312 a0001c0001t0001g0244 a0002c0002t0065g0246 a0011c0018t0035g0312	3	334	0.0090	576	c.-25 others(587): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(569): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0049 a0004c0005t0002g0049	1	334	0.0030	576	c.-25 others(587): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065066	A A	ATAGTATT others(569): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0006 a0008c0007t0006	a0008c0007t0006g0262 a0008c0007t0006g0262	1	334	0.0030	576	c.-25 others(587): Show c.-2550_-2549insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2201		chr11	TogoVar
CDON_chr11_125951821_126067866	126065146	A A	ATAGTATT others(569): Show ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18994.hp1 NA18990.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0091 a0002c0002t0003g0092	2	334	0.0060	576	c.-26 others(587): Show c.-2630_-2629insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2281		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(569): Show ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	334	0.0030	576	c.-26 others(587): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(569): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGA TATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0054 a0011c0054	a0011c0054t0001 a0011c0054t0001	a0011c0054t0001g0201 a0011c0054t0001g0201	1	216	0.0046	576	c.141 others(593): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(569): Show ACTAATATTTAAGAGATATTAGTTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATACTAGCTGCTAAT ATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATAT TTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTT AAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAA GAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGA AATACTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0211 a0017c0020t0001g0211	1	216	0.0046	576	c.141 others(593): Show c.1411-363_1411-362insGATATTAGTTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATACTAG CTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCT GCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGC TAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTA ATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAAT ATTTAAGAAATACTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(569): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp1 NA18992.hp1 others(2): Show HG00673.hp1 HG01934.hp1 NA18992.hp1 NA18994.hp1 NA19074.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0011 a0002c0002 a0013c0011	a0002c0002t0001 a0013c0011t0001 a0002c0002t0001 a0013c0011t0001	a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 others(2): Show a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0157 a0013c0011t0001g0167	5	216	0.0232	576	c.141 others(593): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(569): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00140.hp1 HG00323.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0036 a0001c0016t0001g0036	2	428	0.0047	576	c.217 others(591): Show c.2176-73_2176-72insCCGGCCCCGTGCCCTTCTCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(569): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACACGTATATATACTCATATACATGTGTGTATATACACGTATATA TACTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19064.hp1 NA18955.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0186 a0001c0001t0002g0165 a0001c0001t0002g0186	2	372	0.0054	576	c.894 others(591): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGT ATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTAT ATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1175440	C C	CAGTCTAC others(569): Show CAGTCTACTCAAGGCTAACAGCAGGTTAGCCAATTGCAGATAGCAACTGG GAGCACAGCAGATGAGGCAGCAGGGAGAGGCAGGGACCAAACTATATAGG ACTTTGTAGGTCCTTTTACTACTTTATTACTAAGGATACTTTACTATATT GTAAAACAATATGAAGTTATTAAAGACTTTCTAGCTGCAAGAGGGCAGTA GAGCAGGAGAGGCAAACAACAAAGACATTATCTGATTTGTATATGCAAAA GACCCCATTGGCTACTCTTTGGTGAATATATTGTGAGAGTGGAAAGAATG AGAATTAAAAGGCAGTCATAGAAATCAATTAAAAGGCAATCATAGAAAGT GAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAGACATATCTTTAAGAGC ATGTAAAAGGAAAATTCCACTTGATCTAAGGAGTTCAAATAACACTACCA TAAAAAATTGACTTTCTAACTAAAATGTGAATAAAATTTTACCAATGATT AGATACAGTGGAGAAGAGGCATTTAGGGTATAGGCAAAAACAAACAAACA AAAGAACAAAGTGAGGTATGGGAGAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0102 a0001c0007t0001g0102	1	232	0.0043	576	c.55+ others(593): Show c.55+27378_55+27379insGTCTACTCAAGGCTAACAGCAGGTTAGC CAATTGCAGATAGCAACTGGGAGCACAGCAGATGAGGCAGCAGGGAGAGG CAGGGACCAAACTATATAGGACTTTGTAGGTCCTTTTACTACTTTATTAC TAAGGATACTTTACTATATTGTAAAACAATATGAAGTTATTAAAGACTTT CTAGCTGCAAGAGGGCAGTAGAGCAGGAGAGGCAAACAACAAAGACATTA TCTGATTTGTATATGCAAAAGACCCCATTGGCTACTCTTTGGTGAATATA TTGTGAGAGTGGAAAGAATGAGAATTAAAAGGCAGTCATAGAAATCAATT AAAAGGCAATCATAGAAAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAA AAAGACATATCTTTAAGAGCATGTAAAAGGAAAATTCCACTTGATCTAAG GAGTTCAAATAACACTACCATAAAAAATTGACTTTCTAACTAAAATGTGA ATAAAATTTTACCAATGATTAGATACAGTGGAGAAGAGGCATTTAGGGTA TAGGCAAAAACAAACAAACAAAAGAACAAAGTGAGGTATGGGAGAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(569): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGA TAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATA GACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTC ACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCAC AGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAG TGCGTGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18982.hp2 NA18941.hp1 NA18982.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0006t0006g0143 a0002c0006t0006g0144	2	372	0.0054	576	c.180 others(595): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTG GTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGT TACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTA CAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACA GTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGT GTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGT CGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGG ATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGAT AGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(569): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG01975.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	2	448	0.0045	576	c.51+ others(591): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(569): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	448	0.0022	576	c.51+ others(591): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COPS7A_chr12_6719046_6736865	6733825	T T	TAGGGAGC others(569): Show TAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTTCCC TAGACAAGCAAGACGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGAAAC TCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGATTCTCAGGGA GCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAGACA AGCAAGACGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAG CTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGATTCTCAGGGAGCCCCA TTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAG ACGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTC AGCTTTTCCCTAGACAAGCAAGACGTGATTCTCAGGGAGCCCCATTTCAG GAGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGA TTCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTT TCCCTAGACAAGCAAGACGTGATTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0093 a0001c0002t0015g0093	1	474	0.0021	576	c.27 others(587): Show c.2786_*2787insAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGC TTCTCAGCTTTTCCCTAGACAAGCAAGACGTGATTCTCAGGGAGCCCCAT TTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAGA CGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCA GCTTTTCCCTAGACAAGCAAGACGTGATTCTCAGGGAGCCCCATTTCAGG AGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGAT TCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTT CCCTAGACAAGCAAGACGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGA AACTCTTAGCTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGATTCTCAG GGAGCCCCATTTCAGGAGTTGAAACTCTTAGCTTCTCAGCTTTTCCCTAG ACAAGCAAGACGTGATTCTCAGGGAGCCCCATTTCAGGAGTTGAAACTCT TAGCTTCTCAGCTTTTCCCTAGACAAGCAAGACGTGATTCTC	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1961		chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCCGTGTC others(569): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCATGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCATGTCACCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	576	c.927 others(591): Show c.927+748_927+749insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647274	A A	AATCCTCC others(569): Show AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACC CCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTC CTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCT CTGCCACACCCCTACTCCTCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02976.hp1 HG01496.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0034 a0001c0001t0011g0030 a0001c0001t0011g0034	2	276	0.0073	576	c.51 others(587): Show c.5134_*5135insATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCC TCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1930		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(569): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGGAGG GGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGA GGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGG GAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0155 a0003c0003t0002g0155	1	216	0.0046	576	c.923 others(595): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCC CCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCT CCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(569): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	367	0.0027	576	c.-42 others(587): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875230	C C	CCCACCCC others(569): Show CCCACCCCCCACCCCCACCCCCCACCCGCACCCGCACCCCCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCACCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAACCC CCACCCGCACCCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCG CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCGCACCCCCA CCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACC CCCACCCGCACCCGCACCCCCACCCGCACGCCGCACCCCCACCCGCACCC CCACCCCCCACCTCCACCCCCACCCGCACCCGCACCCCCCACCCCCACCC GCACCCCACCCCCACCCCGCACCCCCACCCCCACCCTCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCGCACCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0107 a0001c0017t0001g0107	1	320	0.0031	576	c.40 others(587): Show c.4002_*4003insAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGAGGGTGGGGGTGGGGGTGCGGGGTGGGGGTGGGGTGCGGGTGGG GGTGGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGGTGGGGGTGCG GGTGGGGGTGCGGCGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTTGG GGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGTGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTGGGGGTGCGGGTGCGGGTGGGGGGTGGGGGTGGGGGGTGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2512		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875284	C C	CCACCCCC others(569): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCGCACCCCCACCCCCACCCTCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCGCACCCGCACCCGCACCCCCACCCTCACCCTCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCTCACCCTC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCTCACCCGCACCCGCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0172 a0002c0002t0001g0173	2	320	0.0063	576	c.39 others(587): Show c.3948_*3949insAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGAGGGTG AGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG AGGGTGAGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2458		chr20	TogoVar

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Search Results (Total: 10000 hits)