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
SLC5A12_chr11_26662020_26727060	26723310	T T	TACCCAAA others(544): Show TACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTAT GTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAAT GTCCAACAATGATAGTCTGGATTAAGAAAATGTGGCACATATACACCATG GAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGAC ATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAA AAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA TCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTAAAACTGAGAGTATAATAAAA AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0130 a0007c0036t0130	a0007c0036t0130g0323 a0007c0036t0130g0323	1	412	0.0024	551	c.-15 others(562): Show c.-1597_-1596insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCTTTTTTTTTTTTTTATTATACTCTCAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATG GTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTT TATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC AGACTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATAGTCCTTTGGGT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding		1251		chr11	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(544): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	322	0.0031	551	c.909 others(566): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(544): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGG GTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAG AGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0006 a0006	a0006c0108 a0006c0108	a0006c0108t0001 a0006c0108t0001	a0006c0108t0001g0096 a0006c0108t0001g0096	1	256	0.0039	551	c.22 others(562): Show c.2270_*2271insGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGG AGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGG AGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGG AGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAG AGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGG AGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGG GAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAG GGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAG AGAGGGAGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(544): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGG GA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	322	0.0031	551	c.597 others(568): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCT CCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(544): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGG GA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18995.hp2 HG00621.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0179 a0001c0001t0004g0207 a0001c0001t0003g0179 a0001c0001t0004g0207	2	322	0.0062	551	c.597 others(568): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCT CCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129334347	G G	GATTAGGT others(544): Show GATTAGGTCAATGTCTCTGGGGTCACTCAAAGCAACAGGATGGAAAGAGG CCACACCCTGGCCTGCTGGAGCCACCCTATGAGTCCCAGGCTGCTGACAT TTAGACAGGGTATCGAGAGCCAAGTAAACGTCAAGCTCTCTAGGTCAGCA TTATAAGGTCTTTTTTTTTCCAGCAGCCAGAATATAGTCCCCTAATGCTC TCTTAACCTCTTGAATTCATTCTCCACGTACAGCCATACTGATCTTTTTT TTTTAATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGATCTTCTGAAAACGTAAGTCAG TCCGTGTGGCTCCCCTGTGGACTGCCTCGCGGGGCTTCCCACTGCACGTG ACAATCCAACTCCTCATGCTGGCTTCTGAGCTCCCCGGAGACTCTGAACT CAACTCACTCACCGCCCGCCATCCAGGCAGGCTGGCTTTCCTTCTCTTTC TCTTATGTTTCAGGGATGTGTGACATCAATCAATCAATCAATCAATGGAT GC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0052 a0002c0003t0001g0025 a0001c0002t0001g0052 a0002c0003t0001g0025	2	94	0.0213	551	c.129 others(570): Show c.1299+3286_1299+3287insGCATCCATTGATTGATTGATTGATTG ATGTCACACATCCCTGAAACATAAGAGAAAGAGAAGGAAAGCCAGCCTGC CTGGATGGCGGGCGGTGAGTGAGTTGAGTTCAGAGTCTCCGGGGAGCTCA GAAGCCAGCATGAGGAGTTGGATTGTCACGTGCAGTGGGAAGCCCCGCGA GGCAGTCCACAGGGGAGCCACACGGACTGACTTACGTTTTCAGAAGATCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAAAGTATAATTAAAAAAAAAAGATCAGTATGGCTGTACG TGGAGAATGAATTCAAGAGGTTAAGAGAGCATTAGGGGACTATATTCTGG CTGCTGGAAAAAAAAAGACCTTATAATGCTGACCTAGAGAGCTTGACGTT TACTTGGCTCTCGATACCCTGTCTAAATGTCAGCAGCCTGGGACTCATAG GGTGGCTCCAGCAGGCCAGGGTGTGGCCTCTTTCCATCCTGTTGCTTTGA GTGACCCCAGAGACATTGACCTAAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418560	T T	TTCCCTTC others(544): Show TTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCC TCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCC CCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTC CCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTA CCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTCCCTACCTCCCCTT CCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCT CCTTTCCTTCTCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTT TCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCC TCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTC CC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0010 a0002c0005t0002g0010	1	114	0.0088	551	c.215 others(568): Show c.2154+427_2154+428insTCCCTCCCTCCCTTTCCTTTCCTTCTCT CCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTC CTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCTCCTTTCCTTCTCTCCCTACCTCTCCTTTCCTTCC CTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCC CTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTC CCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCT CCCTCTCCTTCCCTTCCCTCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFRSF18_chr1_1198508_1211592	1202419	C C	CCCAGCCC others(544): Show CCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG02109.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0015 a0003c0004t0002g0015	2	386	0.0052	551	c.14 others(562): Show c.1424_*1425insAGGCTGGGTACTGCGCTCGGGGCTGGGTACTGGG CTCGGGGATGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGG TACTGGGCTTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGG GGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGC TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGC TCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGT ACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGG GCTGGGTACTGGGCTGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1088		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202419	C C	CCCAGCCC others(544): Show CCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGTGCAGTACCCAGC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02615.hp2 HG06807.hp2 HG01123.hp2 HG02615.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0016 a0003c0004t0002g0016	3	386	0.0078	551	c.14 others(562): Show c.1424_*1425insAGGCTGGGTACTGCACTCGGGGCTGGGTACTGGG CTCGGGGATGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGG TACTGGGCTTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGG GGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGC TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGC TCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGT ACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGG GCTGGGTACTGGGCTGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1088		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202440	C C	CAGCCCAG others(544): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCATCC CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAG CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC ATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCC AGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	386	0.0026	551	c.14 others(562): Show c.1403_*1404insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG CGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTG GGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGC TGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC TGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGT ACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGG GCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGACTGGGTACTGG GCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGG GTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCG GGGCTGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1067		chr1	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(544): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACACGC ACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCCAC ACACGCACGCCACACACGAACGCCACAAACGCCACACACACGAATGCCAC ACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCCAC ACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACACG CACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCACA CA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	430	0.0023	551	c.961 others(566): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGG CGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGCGT GTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGTG GCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCG TGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCC TGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGT GGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGT GGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTG TGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(544): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATTATATATACATTATATATATATATTATATATACATTATATATATATTA TATATACATTATATATATTATATATACATTATATATATATTATATATACA TTATATATATATTATATATACATTATATATATATTATATATACATTATAT ATATATTATATATACATTATATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT AT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01081.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0059 a0001c0002t0002g0060	2	224	0.0089	551	c.102 others(570): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATATAATGTATATATAATATATATATAATGTATATATAATATATAT ATAATGTATATATAATATATATATAATGTATATATAATATATATATAATG TATATATAATATATATAATGTATATATAATATATATATAATGTATATATA ATATATATATATAATGTATATATAATATATATATAATGTATATATAATAT ATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(544): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAAGAAA GCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGG AGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGA AAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAG GGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAG CGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAG GG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	268	0.0037	551	c.30+ others(568): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGG GAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGG AGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGG AAGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGA AGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGA GGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(544): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATAAAAATTATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATATAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATAAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATATAAATTATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	272	0.0037	551	c.28 others(562): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATAAAAATTATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATATAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATAAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATATAAATTATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TTLL10_chr1_1168880_1202936	1202419	C C	CCCAGCCC others(544): Show CCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG03139.hp2 HG02109.hp1 HG02970.hp1 HG03139.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0033 a0010c0017t0001g0238 a0010c0017t0001g0254 a0010c0017t0001g0033 a0010c0017t0001g0238 a0010c0017t0001g0254	3	382	0.0079	551	c.45 others(562): Show c.4572_*4573insCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG TCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAG TACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCG AGCGCAGTACCCAGCCT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4484		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202419	C C	CCCAGCCC others(544): Show CCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGTGCAGTACCCAGC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG06807.hp1 HG01123.hp2 HG06807.hp1	a0006 a0010 a0006 a0010	a0006c0020 a0010c0017 a0006c0020 a0010c0017	a0006c0020t0001 a0010c0017t0001 a0006c0020t0001 a0010c0017t0001	a0006c0020t0001g0255 a0010c0017t0001g0033 a0006c0020t0001g0255 a0010c0017t0001g0033	2	382	0.0052	551	c.45 others(562): Show c.4572_*4573insCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG TCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAG TACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCG AGTGCAGTACCCAGCCT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4484		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202440	C C	CAGCCCAG others(544): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCATCC CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAG CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC ATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCC AGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0296 a0003c0006t0001g0296	1	382	0.0026	551	c.45 others(562): Show c.4593_*4594insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCA GCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4505		chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870128	A A	ACACCACA others(544): Show ACACCACACAAACCACACACCCCACACACACCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCCCA TACACACCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCCCACACACCACACACCATACA CACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACC ACACCCCACACACACCACACACCACACACACCACACCCCATACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp1 others(23): Show HG00438.hp2 HG00609.hp2 HG00621.hp1 HG02027.hp1 HG02080.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0002g0084 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0003g0002 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0158 a0001c0001t0003g0294	26	338	0.0769	551	c.35 others(570): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCC CACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCA CACACCACACCCCACACACCACACCCCACACACACCACACACCACACACA CCACACCCCATACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(544): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATA AATATATATTTATATATTTAATTTATAAATATATATTTATATATTTAATT TATAAATATATATTTATATATTTAATTTATAAATATATATTTATATATTT AA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0122 a0001c0001t0057g0122	1	250	0.0040	551	c.82+ others(566): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATA TATTTAATTTATAAATATATATTTATATATTTAATTTATAAATATATATT TATATATTTAATTTATAAATATATATTTATATATTTAATTTATAAATATA TATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR7_chr18_56646359_57034792	57024554	A A	AACTATGA others(544): Show AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGG ATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACAAATCCCTA TTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGT CCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATG TG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	144	0.0069	551	c.427 others(570): Show c.4270-2450_4270-2449insACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGA TAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAAT AGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCC TTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTT ATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACAAATCCCTAT TCTCAGACAGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(544): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA18959.hp2 NA19074.hp1 HG02559.hp1 NA18959.hp2 NA19074.hp1	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0005 a0007c0007 a0003c0003 a0005c0005 a0007c0007	a0003c0003t0002 a0005c0005t0002 a0007c0007t0002 a0003c0003t0002 a0005c0005t0002 a0007c0007t0002	a0003c0003t0002g0098 a0005c0005t0002g0102 a0007c0007t0002g0023 a0003c0003t0002g0098 a0005c0005t0002g0102 a0007c0007t0002g0023	3	412	0.0073	551	c.-42 others(562): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ABR_chr17_998519_1184981	1064625	T T	TTGTTACG others(545): Show TTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACG TGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGGTATGTGAACTG AGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCC TCTAGACACTGTTGTTATGTGAAGTGAGGGCTATGCATGTTCCTCTAGAC ACTGTTGTTATGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTA TTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGATGCTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGATGC TGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	337	0.0030	552	c.118 others(571): Show c.1182+2451_1182+2452insGCAGCATCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGT CTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGT ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCACTTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTC ACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAAC AGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATACCAACAGTGTCT GGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAAC ATGCATAGCCCTCAGTTCACGTAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1065184	T T	TTGTTATG others(545): Show TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT GTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTG AACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCTC TAGACACTGTTGTTACGTGAAGTGAGGGCTATACATGTTCCTCTAGACAC TGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18970.hp2 HG00408.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0063 a0001c0001t0002 a0001c0001t0063	a0001c0001t0002g0127 a0001c0001t0063g0189 a0001c0001t0002g0127 a0001c0001t0063g0189	2	337	0.0059	552	c.118 others(571): Show c.1182+1892_1182+1893insGCAGTGTCTAGAGGAACATGTATAGC CCTCACTTCACGTAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGT CTGGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCA CATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA GCAGCATCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGT CTAGAGCAACATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119055	T T	TTCTCCCC others(545): Show TTCTCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCG TTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCC TCCCAGCTTTATCCCTGAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCC AGCGTTAACCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAG TTCTTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCCT GAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18950.hp2 HG04199.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0194 a0001c0001t0030g0107 a0001c0001t0001g0194 a0001c0001t0030g0107	2	337	0.0059	552	c.246 others(569): Show c.246+6127_246+6128insCTCAGGCTCAGGGATAACGCTGGGAAGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGATAACGC TGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGG GATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCA GGCTCAGGGATAACGCTGGGAAGAACTCAGGCTCAGGGTTAACGCTGGGG AGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAA CGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCAGGCT CAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAAGAA CTCAGGCTCAGGGATAAAGCTGGGAGGAACTCAGGCTCAGGGTTAACGCT GGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGG GATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCA GGCTCAGCGATAACGCTGGGGAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(545): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0022 a0022	a0022c0072 a0022c0072	a0022c0072t0005 a0022c0072t0005	a0022c0072t0005g0031 a0022c0072t0005g0031	1	354	0.0028	552	c.523 others(571): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1617410	A A	ACCCTGCT others(545): Show ACCCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGGAGGGCTGCATTCT GTTGCTAGATGTTTGTGTGCCCCTCCAGACACACTCCACACCGCCCTGCT GTGCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGCATTCTGTTGCTAG ATGTTTGTGTGCCCGTCCAGACACACTCCGCACCACCCTGCTGTGCTCTG CATCCTGGGAACTGGCCTCAGAGGGTTGCATTCTGTCGCTAGATGTTTGT GTGCCCGTCCAGACACACTCCACACCGCCCTGCTGTGCTCTGCATCCTGG GAACTGGCCTCAGAGGGTTGCATTCTGTCGCTAGATGTTTGTGTGCCCGT CCAGACACACTCCACACCGCCCTGCTGAGCTCTGCATCCTGGGAACTGGC CTCAGAGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACAC ACTCCGCACCACCCTGCTGAGCTCTGCCTCCTGGGAACTGACCTCAGAGG GTTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCACA CCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	552	c.100 others(573): Show c.100+119640_100+119641insCGGTGTGGAGTGTGTCTGGACGGG CACACAAACATCTAGCAACAGAATGCAACCCTCTGAGGTCAGTTCCCAGG AGGCAGAGCTCAGCAGGGTGGTGCGGAGTGTGTCTGGACGGGCACACAAA CATCTAGCAACAGAATGCAGCCCTCTGAGGCCAGTTCCCAGGATGCAGAG CTCAGCAGGGCGGTGTGGAGTGTGTCTGGACGGGCACACAAACATCTAGC GACAGAATGCAACCCTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAG GGCGGTGTGGAGTGTGTCTGGACGGGCACACAAACATCTAGCGACAGAAT GCAACCCTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAGGGTGGTGC GGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAACCGT CTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAGGGCGGTGTGGAGTGTG TCTGGAGGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCCGAGGTC AATTACCAGGATGCAGAGCACAGCAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235802961	T T	TGTGATGA others(545): Show TGTGATGATGGTTGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTTG TGATGGTGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGTGGTG GTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGATGATGGTCGTGGT GATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGATGGTTG TGGTTGTGATGATGATTGTGATGGTGATGATGCTGGTTGTGGTTGTGATG GTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGATGGTTGTGGTGAT GGTTGTGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGG TTGTGGTTGTGATGGTGGTGGTGGTGGTTGTGATGATGGTTGTGGTTGTG ATGATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGAT GGTTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGG TGATGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTG ATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0028 a0001c0008t0001 a0001c0008t0028	a0001c0008t0001g0061 a0001c0008t0028g0029 a0001c0008t0001g0061 a0001c0008t0028g0029	2	98	0.0204	552	c.957 others(569): Show c.957+3454_957+3455insATGATGGTTGTGATGGTGGTGATGGTTG TGGTTGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATG GTGGTGGTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGATGATGGT CGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGA TGGTTGTGGTTGTGATGATGATTGTGATGGTGATGATGCTGGTTGTGGTT GTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGATGGTTGT GGTGATGGTTGTGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGGTTGTGATGGTGGTGGTGGTGGTTGTGATGATGGTTGTG GTTGTGATGATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGT GATGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGA TGGTGGTGATGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGATGATG GTTGTGATGGTGATGATGGTTGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802995	G G	GTGGTGAT others(545): Show GTGGTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGAT GGTTGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGA TGATTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATT GTGATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGAT GGTGGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGA TGGTTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATG GTTGTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGT GATGATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGA TGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTG GTGATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGAT GGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTG TGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG00642.hp1 HG01192.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0006 a0002c0007t0018 a0002c0004t0006 a0002c0007t0018	a0002c0004t0006g0042 a0002c0007t0018g0028 a0002c0004t0006g0042 a0002c0007t0018g0028	2	98	0.0204	552	c.957 others(569): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATG GTGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(545): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGGT GATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTTGTGATGGTTG TGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTG GTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGAT GGTTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTG TGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATG GTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGAT GATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATGG TGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	98	0.0102	552	c.957 others(569): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGGTGA TGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTTGTGATGGTTGTG ATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGT TGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGG TTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTG ATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGT TGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGA TGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATGGTG ATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(545): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGATGGTTG TGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTG GTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGAT GGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTG TGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATG GTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGAT GATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATGG TGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp2 HG02622.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0043 a0001c0001t0027 a0001c0002t0043	a0001c0001t0027g0062 a0001c0002t0043g0064 a0001c0001t0027g0062 a0001c0002t0043g0064	2	98	0.0204	552	c.957 others(569): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGATGGTTGTG ATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGT TGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGG TTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTG ATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGT TGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGA TGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATGGTG ATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(545): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	301	0.0033	552	c.125 others(573): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCTCCTCCCC CTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(545): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCC AGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTC CGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCC CCCACCCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGG CCCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCT GCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCC CCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	150	0.0067	552	c.276 others(571): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCT GCCCTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCC CAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCC GCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGC CTCCGACCCTGCCCTCCGTCCCCCACCCCCCGCCTCCGGCCCTGCCCTCC GTCCCTCACCCCCGCCTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTC CGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCC CCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGC CCTGCCCGCCAGCCCTCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
B3GNTL1_chr17_82937149_83056770	82970640	G G	GCACCCAG others(545): Show GCACCCAGCGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGC ACCCAGCGTGGACGCGACCTCCCCACCCAGCGTGGACGCGACCTCCGCAC CCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCC AGCGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCCCACCCAG CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGACGCGACCTCCCCACCCAGCGTGGACGCGACCTCCGCACCCAGCGTG GACGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGC CGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCG CGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTG ACCTCCGCACACAGCGTGGCCGTGACCTCCGCACCCAGTGTGGCCGTGAC CTCCGCACCCAGCGTGGCCGTGACCTCTGCACACAGCGTGGCCATGACCT CCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0143 a0001c0011t0030g0143	1	266	0.0038	552	c.460 others(569): Show c.460-4895_460-4894insGGGAGGTCATGGCCACGCTGTGTGCAGA GGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACACTGGGTGCGGAGG TCACGGCCACGCTGTGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTC ACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGC GGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGCGG CCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCC ACGCTGGGTGGGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCAC GCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGGGGAGGTCGCGTCCACGC TGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTG GGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGG TGGGGAGGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTG CGGAGGTCGCGTCCACGCTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGGTGATG others(545): Show TGGTGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC GGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTAATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTAATAGTCGTGGGTGATGTGGTTGGG GGTGATTGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGT GATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTG GTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG03579.hp2 others(1): Show HG01884.hp2 HG02486.hp1 HG03579.hp2 NA20300.hp1	a0018 a0019 a0025 others(1): Show a0018 a0019 a0025 a0048	a0018c0106 a0019c0105 a0025c0107 others(1): Show a0018c0106 a0019c0105 a0025c0107 a0048c0045	a0018c0106t0010 a0019c0105t0001 a0025c0107t0002 others(1): Show a0018c0106t0010 a0019c0105t0001 a0025c0107t0002 a0048c0045t0001	a0018c0106t0010g0328 a0019c0105t0001g0249 a0025c0107t0002g0250 others(1): Show a0018c0106t0010g0328 a0019c0105t0001g0249 a0025c0107t0002g0250 a0048c0045t0001g0254	4	332	0.0121	552	c.179 others(567): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTA ATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTAATAGTCGTGGGTGATGTGGTTGGGGGT GATTGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTT GGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTG GGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(545): Show AGTGATGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTGGTGGT GGTGATGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGG TGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTG CTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTGGTGGTGGTGATGGTG GTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAAT GGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGG TACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGCTGGTGGTCATGGTACT TTGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGATGGTACTGGTGGTG ATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03486.hp1 HG02572.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0001 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0034 a0001c0001t0008g0116 a0001c0001t0021g0102 a0001c0001t0001g0034 a0001c0001t0008g0116 a0001c0001t0021g0102	3	262	0.0115	552	c.487 others(567): Show c.487+706_487+707insCATCACCACCAGTACCATCACCACCATCAC CACCACCATCACCATCACCACAAAGTACCATGACCACCAGCACCATCACT ACCACCACCACCACCATCACCACCACCACCATTACCACCACCATCACTAC CACCACCACCATCACCACCAGTACCATCACCACCACCACCATCACTACCA CCACCACCACCACCACCACCACCATTACCACCACCATCACTACCACCACC ACCATCACCACCAGTACCATCACCACCATCACCACCACCACCACCATTAT CACTACCACCACCACCACCACCACCACCATCACCACCACCATCACCATCA CCACAAAGTACCATGACCACCAGCACCATCACTACCACCACCACCACCAT CACCACCACCACCATTACCACCACCATCACTACCACCACCACCATCACCA CCAGTACCATCACCACCATCACCACCACCACCACCATTATCACTACCACC ACCACCACCACCACCACCATCACCACCACCATCACCATCACCACAAAGTA CCATGACCACCAGCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(545): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAGAAGAGGAGGAGGAAGGGG GAAGGGGGAGTGGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGG AAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	300	0.0033	552	c.-70 others(561): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAGAAGAG GAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAAGGGGAAGAAGGAGGGGGA AGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(545): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCAC TCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCC CCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCC TCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0115 a0003c0004t0004g0115	1	328	0.0031	552	c.178 others(567): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAG TGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGG AGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAG ATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGT GGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGG GGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAG GAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGAT GAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGG GGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CABLES1_chr18_23130485_23265470	23218397	T T	TTCCCGCA others(545): Show TTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCC CGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCG CATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCA TCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATC CTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCA CTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACT TGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTG CCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCC CTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCT GGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	278	0.0036	552	c.108 others(571): Show c.1088+4485_1088+4486insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTT GCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(545): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	144	0.0069	552	c.354 others(571): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTACAAAAAGGAA CACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATCATG AATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAAAAG AACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATACCAA CACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAAAGA CATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATACCC ACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCACCAA AAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAATTAA GTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAAATT AGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATAGTA CTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAAAAT AATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	7499734	G G	GTGAGTGT others(545): Show GTGAGTGTGCAGAGAGGATGGTGTGATCCTGGTGTGCATGTGTATGTATA TGAGTGTGTGTGTGCATGTGTGTACATGAGTGAGTGTGTAGAGAGGATGG TGTGAGCCTGGTGTGCGTGTGTATGCATATGAGTGTGTGTGCATGTGTGT ACATGTGTGTAGAGAGGATTGTGTGAGCCTGGTGTGCGTGTGTATGTATA TGAGTGTGTGTGTGCATGTGTGTACATGAGTGTGTAGAGAGGATTGTGTG AGCCTGGTGTGCATGTGTATGTATATGAGTGTGTGTGTGCATGTGTGTAC ATGAGTGTGTAGAGAGGATTGTGTGAGCCTGGTGTGCATGTGTATGTATA TGAGTGTGTGTGTGCATGTGTGTCCATGAGTGTGTAGAGAGGATGGTGTG AGCCTGGCGTGAGTGCGTATGTATATGAGTGTGTGTGTGCATGAGTGAGT GTGAGCCTGGTGTGAGTGCATGTGTATGTGAGTGTGTGCATGAGTGTGTG TGAACCTGGTGTGCGTGCATATGTATATGAGTGTGTGTGTGCATGTGTGT CCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	58	0.0172	552	c.510 others(571): Show c.510+31841_510+31842insCAGAGAGGATGGTGTGATCCTGGTGT GCATGTGTATGTATATGAGTGTGTGTGTGCATGTGTGTACATGAGTGAGT GTGTAGAGAGGATGGTGTGAGCCTGGTGTGCGTGTGTATGCATATGAGTG TGTGTGCATGTGTGTACATGTGTGTAGAGAGGATTGTGTGAGCCTGGTGT GCGTGTGTATGTATATGAGTGTGTGTGTGCATGTGTGTACATGAGTGTGT AGAGAGGATTGTGTGAGCCTGGTGTGCATGTGTATGTATATGAGTGTGTG TGTGCATGTGTGTACATGAGTGTGTAGAGAGGATTGTGTGAGCCTGGTGT GCATGTGTATGTATATGAGTGTGTGTGTGCATGTGTGTCCATGAGTGTGT AGAGAGGATGGTGTGAGCCTGGCGTGAGTGCGTATGTATATGAGTGTGTG TGTGCATGAGTGAGTGTGAGCCTGGTGTGAGTGCATGTGTATGTGAGTGT GTGCATGAGTGTGTGTGAACCTGGTGTGCGTGCATATGTATATGAGTGTG TGTGTGCATGTGTGTCCATGAGTGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544687	C C	CCGTCGCC others(545): Show CCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTC CCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCC ACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCC CCA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	410	0.0024	552	c.-22 others(569): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCTCCCCCACGTCGTCGCCTCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(545): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACA CTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG02735.hp2 others(1): Show HG00140.hp1 HG00280.hp2 HG02735.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148	4	252	0.0159	552	c.-29 others(563): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(545): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCTGCC ACAGCCCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCAC AGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCA TCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCTACC TTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCC ACA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0002 a0003c0027t0002	a0003c0027t0002g0061 a0003c0027t0002g0061	1	284	0.0035	552	c.411 others(569): Show c.4112+605_4112+606insTGTGGCAGGCGAGGGGACAGGAAGGTGG GCTGTGGCAGGCGAGGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGATGG GAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGC AGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGT GGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGG ACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGC AGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGG GCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(545): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCC TCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	256	0.0039	552	c.-45 others(573): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDCP1_chr3_45077277_45151378	45133738	A A	AGAAAAAA others(545): Show AGAAAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTT AACTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACC TGCCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTG GGATGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTAT ATAGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAA ACATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAG GAGGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAG AGTTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCA GTGGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGA GGAGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTC CCTTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGG TAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02970.hp2 others(2): Show HG02145.hp1 HG02886.hp1 HG02970.hp2 HG03516.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0015 a0001c0007 a0004c0015	a0001c0007t0008 a0004c0015t0007 a0001c0007t0008 a0004c0015t0007	a0001c0007t0008g0238 a0001c0007t0008g0314 a0001c0007t0008g0315 others(2): Show a0001c0007t0008g0238 a0001c0007t0008g0314 a0001c0007t0008g0315 a0001c0007t0008g0359 a0004c0015t0007g0250	5	384	0.0130	552	c.82+ others(569): Show c.82+12467_82+12468insCTACCGACAGAACATTTTCTGGAGCCAC TGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTGT TTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGTA CAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAGG GCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCTC TCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACAT TAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAATA TTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTCA GCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCAA ACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCTT TCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTCT TTAAAAAAGTATATATATTTTTTC	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAAATA others(545): Show AAAAAATATATATACTTTTTTTAAAGAAGAAAACCAATACAGAACTCTTA ACTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCT GCCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGG GATGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATA TAGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAA CATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGG AGGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGA GTTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAG TGGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAG GAGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCC CTTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGT AGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0365 a0002c0002t0003g0365	1	384	0.0026	552	c.82+ others(569): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAAGTATATATATTTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDH4_chr20_61247261_61945617	61943130	C C	CCCCCTCT others(545): Show CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0020 a0002c0005t0020	a0002c0005t0020g0056 a0002c0005t0020g0056	1	106	0.0094	552	c.61 others(563): Show c.6187_*6188insCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCG TCTGCACCGTGGCCGCCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2514		chr20	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(545): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGGTGGATGGATAG ATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGGTGGATA TATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGT GGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGAGT GAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGG ATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGAAT GAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGG ATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGAATGGAT GGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	262	0.0038	552	c.259 others(571): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGAT GGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGA TGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGG GTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGG GTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAAT AGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGT GGATGGGTGGATGAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGG ATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(545): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGA TATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0074 a0003c0074	a0003c0074t0001 a0003c0074t0001	a0003c0074t0001g0139 a0003c0074t0001g0139	1	216	0.0046	552	c.141 others(569): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGA	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(545): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02976.hp1 NA18952.hp2 HG00621.hp1 HG02976.hp1 NA18952.hp2	a0002 a0009 a0021 a0002 a0009 a0021	a0002c0002 a0009c0012 a0021c0021 a0002c0002 a0009c0012 a0021c0021	a0002c0002t0001 a0009c0012t0001 a0021c0021t0001 a0002c0002t0001 a0009c0012t0001 a0021c0021t0001	a0002c0002t0001g0154 a0009c0012t0001g0145 a0021c0021t0001g0209 a0002c0002t0001g0154 a0009c0012t0001g0145 a0021c0021t0001g0209	3	216	0.0139	552	c.141 others(569): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar

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Search Results (Total: 10000 hits)