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
PRDM16_chr1_3064203_3443621	3165939	A A	ACTCACCT others(546): Show ACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGAC TCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTC ACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCAC CAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCT GGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCAGG GCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGC TCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTC AGGGACAGTGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAG GGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGG ACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGAC AGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGAACGG AGGC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0197 a0001c0001t0033g0197	1	210	0.0048	553	c.38- others(570): Show c.38-20179_38-20178insGGGCTCAGGGACAGGGACTCACCTGGGC TCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTC AGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAG GGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGG ACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGAC AGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAG GGACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGG ACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGGGAC TCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTC ACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCAC CTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCT GGGCTCAGGAACGGAGGCCTCACCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(546): Show CGGGCGGGGGGCTGACCCCCCCCACCCATCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGCACGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0092 a0001c0004t0009g0092	1	148	0.0068	553	c.822 others(570): Show c.822-3678_822-3677insCACCCATCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGCACGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGTGGGGCGGGGGGCTGACCCCCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(546): Show CGGGCGGGGGGCTGACCCCCCCCACCCATCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGCGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02258.hp2 others(7): Show HG01109.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0019 a0001c0001t0069 a0001c0001t0076 others(7): Show a0001c0001t0019 a0001c0001t0069 a0001c0001t0076 a0001c0002t0012 a0001c0002t0023 a0001c0003t0025 a0001c0003t0064 a0001c0003t0074 a0001c0004t0009 a0001c0013t0048	a0001c0001t0019g0146 a0001c0001t0069g0049 a0001c0001t0076g0100 others(7): Show a0001c0001t0019g0146 a0001c0001t0069g0049 a0001c0001t0076g0100 a0001c0002t0012g0098 a0001c0002t0023g0079 a0001c0003t0025g0016 a0001c0003t0064g0147 a0001c0003t0074g0141 a0001c0004t0009g0026 a0001c0013t0048g0047	10	148	0.0676	553	c.822 others(570): Show c.822-3678_822-3677insCACCCATCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGCGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGTGGGGCGGGGGGCTGACCCCCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCAGAG others(546): Show GGGCAGAGGGGAGGGTGGAGAGATGGTGTGGGCGGAGGGGAGGGTGGAGA GATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGG GAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGG GTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGTGTGGG GGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGA CAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTG TGGGCGGAGGGGAGGGTAGAGAGATGAGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGA GGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0139 a0005c0012t0001g0139	1	312	0.0032	553	c.188 others(572): Show c.1882-1434_1882-1433insGCAGAGGGGAGGGTGGAGAGATGGTG TGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGAT GGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAG GGTGGAGAGATGAGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTG TGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAG AGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTAGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGGGTGGAGAGATGAGGGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(546): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGG GTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTG GGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTGTGGGGTGAGT GGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp2 NA18986.hp1 NA18986.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0030 a0002c0002 a0003c0030	a0002c0002t0010 a0003c0030t0007 a0002c0002t0010 a0003c0030t0007	a0002c0002t0010g0050 a0003c0030t0007g0049 a0002c0002t0010g0050 a0003c0030t0007g0049	2	292	0.0069	553	c.261 others(570): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAA TGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGG GGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA GTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(546): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGAAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGAAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAG GCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAA GAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	133	0.0075	553	c.351 others(572): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTTCCTCCCTCCCCA TCTCTTTCCTGAAACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTTCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTTCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304967	G G	GGGGGACA others(546): Show GGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGG GGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGG CGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGG GAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGG GGACAGGGCGGGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGAGGG GACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGC GGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0106 a0001c0001t0014g0106	1	133	0.0075	553	c.351 others(572): Show c.351+14452_351+14453insTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTC TCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCT CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCT CGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668639	T T	TTCCCTCT others(546): Show TTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCT CCCTCTCCCCCTTACCCTCCTCTCCCTCTCCTCCCCTCCCAACCTCCCTC TCCCTCACCTTCCCTCTCCCTTACCCTCCCTCACCCTCACCCTCCCCTCT CCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCACCCTTACCCTCCCCCTC ACCCACACCCTCCCTCTCCCCACCACCCACCCTCTCCCCACACCCACCCA CCCCTCACACCCCACCCCCACCACACCCCACACCCTCCCCCACCCCACAC CCACCCCACCACTACCCTCCCACTCCCCTTACCCCACCCACCCCCCCACC CCACCCCACCTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTC CCTCACCCACCCTCTCCCTCACCCTCCCACACCCCACACCACCCCCTCCC ACACCCACCCACTCCCCACCCACCCACCACCCACACCCACCATCTCCCCA CACCCACACCTCACCCTCACCCACCCTCTCCCCACACCCTCCCTCACCCT CACC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0104 a0002c0018t0003g0104	1	262	0.0038	553	c.249 others(572): Show c.2496-1770_2496-1769insGGTGAGGGTGAGGGAGGGTGTGGGGA GAGGGTGGGTGAGGGTGAGGTGTGGGTGTGGGGAGATGGTGGGTGTGGGT GGTGGGTGGGTGGGGAGTGGGTGGGTGTGGGAGGGGGTGGTGTGGGGTGT GGGAGGGTGAGGGAGAGGGTGGGTGAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTAGGGGAGAGGGAGGTGGGGTGGGGTGGGGGGGTGGGTGGGGTAA GGGGAGTGGGAGGGTAGTGGTGGGGTGGGTGTGGGGTGGGGGAGGGTGTG GGGTGTGGTGGGGGTGGGGTGTGAGGGGTGGGTGGGTGTGGGGAGAGGGT GGGTGGTGGGGAGAGGGAGGGTGTGGGTGAGGGGGAGGGTAAGGGTGAGG GAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAGGGGAGGGTGAGGGTGAGG GAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGTTGGGAGGGGAGGA GAGGGAGAGGAGGGTAAGGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTG AGGGAGAGGGAAGGTGAGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(546): Show CCACGCAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	116	0.0086	553	c.199 others(572): Show c.1994+2130_1994+2131insCACGCAGGGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678939	A A	ATGGGGAG others(546): Show ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGG GTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGT GATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01070.hp1 HG01358.hp2 others(17): Show HG00597.hp2 HG01070.hp1 HG01358.hp2 HG01884.hp2 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp2 NA18612.hp2 NA18969.hp2 NA18983.hp1 NA19030.hp2 NA19067.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0017	a0001c0003 a0001c0004 a0001c0009 others(5): Show a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0003c0005 a0003c0006 a0006c0023 a0017c0036	a0001c0003t0007 a0001c0003t0010 a0001c0003t0082 others(11): Show a0001c0003t0007 a0001c0003t0010 a0001c0003t0082 a0001c0004t0004 a0001c0009t0007 a0001c0009t0022 a0001c0011t0006 a0003c0005t0002 a0003c0005t0003 a0003c0005t0020 a0003c0005t0043 a0003c0006t0014 a0006c0023t0012 a0017c0036t0002	a0001c0003t0007g0065 a0001c0003t0010g0076 a0001c0003t0082g0083 others(17): Show a0001c0003t0007g0065 a0001c0003t0010g0076 a0001c0003t0082g0083 a0001c0004t0004g0182 a0001c0009t0007g0251 a0001c0009t0007g0270 a0001c0009t0022g0084 a0001c0011t0006g0267 a0003c0005t0002g0174 a0003c0005t0003g0100 a0003c0005t0003g0117 a0003c0005t0003g0164 a0003c0005t0003g0199 a0003c0005t0003g0241 a0003c0005t0020g0149 a0003c0005t0020g0214 a0003c0005t0043g0020 a0003c0006t0014g0212 a0006c0023t0012g0085 a0017c0036t0002g0294	20	316	0.0633	553	c.257 others(572): Show c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACC CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1073218	C C	CCCCCAGT others(546): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTAT GCAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0024 a0002c0012t0024	a0002c0012t0024g0073 a0002c0012t0024g0073	1	118	0.0085	553	c.224 others(570): Show c.2241+414_2241+415insCTGCATAAGTGTGATACCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCAT AAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGAT GCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(546): Show CATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	302	0.0033	553	c.12+ others(568): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(546): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGA GGGA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	322	0.0031	553	c.909 others(568): Show c.909+983_909+984insTCCCTCTCCCTCTCCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(546): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGG GAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGC GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	251	0.0040	553	c.34 others(562): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCCCCCCTCCCCCTCCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTC CCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCC CCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(546): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTATAT ATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATAGT ATATATATTATATATAGTATATATTTTATATATAGTATATATATTATATA TAGTATTATATATTTTATATATAGTATATATATTATGTATAGTATTATAT ATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATAT ATGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0025 a0025	a0025c0054 a0025c0054	a0025c0054t0001 a0025c0054t0001	a0025c0054t0001g0185 a0025c0054t0001g0185	1	268	0.0037	553	c.291 others(572): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATATTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATA TATTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATGTATAGTATATATATTATATATAGTATATATTTT ATATATAGTATATATATTATATATAGTATTATATATTTTATATATAGTAT ATATATTATGTATAGTATTATATATTTTATATATAGTATATATATTATGT ATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(546): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGG AACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	364	0.0028	553	c.157 others(572): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTC TCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF25_chr16_89868592_89916379	89908669	C C	CTCCCACC others(546): Show CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGC TCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCT CCCACCTCCCTCCTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTG CCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCC CACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCC AGCTCCCTCCTCCCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCA CCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAG CTCCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACC TCCCAACTCCCTCCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCT CCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02145.hp1 others(10): Show HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0004 a0002c0006 a0006c0009 others(1): Show a0001c0004 a0002c0006 a0006c0009 a0009c0013	a0001c0004t0002 a0002c0006t0002 a0006c0009t0002 others(1): Show a0001c0004t0002 a0002c0006t0002 a0006c0009t0002 a0009c0013t0002	a0001c0004t0002g0058 a0001c0004t0002g0061 a0001c0004t0002g0063 others(10): Show a0001c0004t0002g0058 a0001c0004t0002g0061 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0070 a0002c0006t0002g0182 a0006c0009t0002g0072 a0009c0013t0002g0060	13	300	0.0433	553	c.179 others(572): Show c.1799+1351_1799+1352insACCTCCCAGCTCCAACCTTCCAGCTC CCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCC CAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCT ATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCA GTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAG TTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCCACC TCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCT CCCGCCTCCCACCTTCCAGCTCCTGCCTCCCTCCTCCCAGTTCCCACCTC CCAGCTCCCACCTCCCACCTCCCAACTCCCTCCTCCCACCTCCCAACTCC CTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCC ACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCA GTTCCCACCTCCTTCCTCGCAGTTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908669	C C	CTCCCACC others(546): Show CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGC TCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCT CCCACCTCCCTCCTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTG CCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCC CATCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCC AGCTCCCTCCTCCCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCA CCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAG CTCCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACC TCCCAACTCCCTCCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCT CCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02970.hp1 HG02622.hp2 HG02717.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0059 a0001c0004t0002g0071 a0001c0004t0002g0263 a0001c0004t0002g0059 a0001c0004t0002g0071 a0001c0004t0002g0263	3	300	0.0100	553	c.179 others(572): Show c.1799+1351_1799+1352insACCTCCCAGCTCCAACCTTCCAGCTC CCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCC CAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCT ATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCA GTTCCCACCTCCCAGCTCCCATCTCCCAGCTCCCGCCTCCCTCATCCTAG TTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCCACC TCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCT CCCGCCTCCCACCTTCCAGCTCCTGCCTCCCTCCTCCCAGTTCCCACCTC CCAGCTCCCACCTCCCACCTCCCAACTCCCTCCTCCCACCTCCCAACTCC CTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCC ACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCA GTTCCCACCTCCTTCCTCGCAGTTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908669	C C	CTCCCACC others(546): Show CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCTGGC TCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCT CCCACCTCCCTCCTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTG CCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCC CACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCC AGCTCCCTCCTCCCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCA CCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAG CTCCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACC TCCCAACTCCCTCCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCT CCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0190 a0002c0006t0002g0190	1	300	0.0033	553	c.179 others(572): Show c.1799+1351_1799+1352insACCTCCCAGCTCCAACCTTCCAGCTC CCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCC CAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCT ATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCA GTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAG TTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCCACC TCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCT CCCGCCTCCCACCTTCCAGCTCCTGCCTCCCTCCTCCCAGTTCCCACCTC CCAGCTCCCACCTCCCACCTCCCAACTCCCTCCTCCCACCTCCCAACTCC CTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCC ACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCA GTTCCCACCTCCTTCCTCGCAGTTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(546): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGCACGCCACACACGAACGCCACAAACGCCACACACACGAATGCC ACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCC ACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	430	0.0023	553	c.961 others(568): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGG CGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGCGT GTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGTG GCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTG CCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGT GTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGC GTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTG TGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(546): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATG CCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCATGCCACACACATGCACGCCACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	430	0.0023	553	c.961 others(568): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGGCGTGCA TGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGG CGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGTGG CGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGCGT GTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGTG GCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTG CCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGT GTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGC GTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTG TGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(546): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACGCACGCCACACA CGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACACGC ACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCCAC ACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATGCC ACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCC ACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp2 HG02040.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0154 a0001c0001t0001g0153 a0001c0001t0002g0154	2	430	0.0047	553	c.961 others(568): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTG CCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGT GTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGC GTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTG TGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(546): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACGCACGCCACA CACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACACAG GCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCACAC ACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCA CGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACACGC ACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCCAC ACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATGCC ACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCC ACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	430	0.0023	553	c.961 others(568): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGT GTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTG GCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGGCATGCGTG TGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930695	T T	TGGGGTTA others(546): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGG TTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAG GCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	466	0.0022	553	c.48 others(564): Show c.4895_*4896insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA TCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4674		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870478	A A	ACACCCCA others(546): Show ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCAC ACCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	338	0.0030	553	c.35 others(572): Show c.35+21748_*35+21749insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACA CCACACCCCATACACACCACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK4_chr3_41241599_41967103	41891185	G G	GGGGGAAG others(546): Show GGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGACGGGAGCGGGGAAGG AAGGGACGGGAGCGGGGAAAGAAGGGACGGGAGCGGGGAAGGAAGGGACG GGAGCGGGGAAGAAAGGGACGGGAGCGGGGAAGGAAGGGACGGGAGGGGG AAAGAAGGGACAGAAGGGGGAAGGAAGGGACGGGAGCGGGGAAGGAAGGG ACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGACGGGAGCG GGGAAGGAAGGGACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAA GGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAG GGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAA GGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGATGGGAG CGGGGAAGGAAGGGACGGGAGCGGGGAAGAAAGGGACGGGAGCGGGGAAG GAAGGGACGGGAGGGGGAAAGAAGGGACAGAAGGGGGAAGGAAGGGACGG GAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0005 a0015c0015t0001g0005	1	72	0.0139	553	c.157 others(572): Show c.1577+4332_1577+4333insGCTCCCGTCCCTTCCTTCCCCCTTCT GTCCCTTCTTTCCCCCTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTTTC TTCCCCGCTCCCGTCCCTTCCTTCCCCGCTCCCATCCCTTCTTTCCCCCT CCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTT CTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCT CCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTT CCTTCCCCGCTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTTCCTTCCCC CTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTTCCTTCCCCGCTCCCGTC CCTTCCTTCCCCCTTCTGTCCCTTCTTTCCCCCTCCCGTCCCTTCCTTCC CCGCTCCCGTCCCTTTCTTCCCCGCTCCCGTCCCTTCCTTCCCCGCTCCC GTCCCTTCTTTCCCCGCTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTTC CTTCCCCCTCCCGTCCCTTCCTTCCCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(546): Show CCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCTCACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTT CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCTTCCTTCCTCCCTCCCCACACACC ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0043 a0005c0006t0002g0043	1	115	0.0087	553	c.92 others(562): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(546): Show GGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGGTGGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0051 a0051	a0051c0062 a0051c0062	a0051c0062t0013 a0051c0062t0013	a0051c0062t0013g0009 a0051c0062t0013g0009	1	341	0.0029	553	c.24 others(562): Show c.245_*246insGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGG TGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(546): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCC CCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	246	0.0041	553	c.53- others(566): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(546): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	326	0.0031	553	c.483 others(568): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(546): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0193 a0001c0018t0002g0193	1	326	0.0031	553	c.483 others(568): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(546): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02055.hp2 HG02970.hp1 others(1): Show HG01981.hp2 HG02055.hp2 HG02970.hp1 NA20129.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0010c0015 a0002c0004 a0010c0015	a0002c0004t0003 a0010c0015t0001 a0002c0004t0003 a0010c0015t0001	a0002c0004t0003g0315 a0002c0004t0003g0316 a0002c0004t0003g0317 others(1): Show a0002c0004t0003g0315 a0002c0004t0003g0316 a0002c0004t0003g0317 a0010c0015t0001g0325	4	326	0.0123	553	c.483 others(568): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(546): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19074.hp2 NA19007.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0019 a0001c0002t0002g0197 a0001c0001t0004g0019 a0001c0002t0002g0197	2	326	0.0061	553	c.483 others(568): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(546): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTC CCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	246	0.0041	553	c.-10 others(570): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCTCCTTCCCCCCTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZDHHC11B_chr5_705355_789729	783840	C C	CCATCAAG others(546): Show CCATCAAGACAACAGCCCCCCCAACCCGTATCAAAACAGCAGCCCCCAAC CCCTCATCAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCCCCA ACCCCTATCAAAACAGCAGCCTCCCAACCCCTATCAAAACAGCAGCCCCC AACCCCCTATCAAAACAGCAGCCCCCCTAAGCCCCCATCAAGACAGCAGC CTCCCAACCCCACATCAAAACAGCAGCCCCCCAGACCCCATCAAAACAGC AGCCCCCAACCACCTATCAAAACAGCAGCCCCCAACCCCTATCAAAACAG CAGCCCCCCAACCCCCTATCAAAACAGTAGCCTCCCAACCACCTATCAAA ACAGCAGCCTCCCAACCCCCTATCAAAACAGCAGCCCCCAAACCCCTATC AAAACTGCAGCTCCCAACCCCCTATCAAAACAGCAGTCCCCCAACCCTAT CAAAACAGCAGCCCTCCAACCCCCTATCAAAACAGCAGCCCCCCAAACCC CTATCAAAACAGCAGCCCCCAACCCCGTATCAAAATAGCAGCCTCCCAAC CCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 NA20752.hp2 HG01261.hp2 HG02258.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0017 a0001c0004t0005 a0002c0006t0043 a0001c0001t0017 a0001c0004t0005 a0002c0006t0043	a0001c0001t0017g0007 a0001c0004t0005g0009 a0002c0006t0043g0008 a0001c0001t0017g0007 a0001c0004t0005g0009 a0002c0006t0043g0008	3	271	0.0111	553	c.-23 others(570): Show c.-230+827_-230+828insAGGGGTTGGGAGGCTGCTATTTTGATAC GGGGTTGGGGGCTGCTGTTTTGATAGGGGTTTGGGGGGCTGCTGTTTTGA TAGGGGGTTGGAGGGCTGCTGTTTTGATAGGGTTGGGGGACTGCTGTTTT GATAGGGGGTTGGGAGCTGCAGTTTTGATAGGGGTTTGGGGGCTGCTGTT TTGATAGGGGGTTGGGAGGCTGCTGTTTTGATAGGTGGTTGGGAGGCTAC TGTTTTGATAGGGGGTTGGGGGGCTGCTGTTTTGATAGGGGTTGGGGGCT GCTGTTTTGATAGGTGGTTGGGGGCTGCTGTTTTGATGGGGTCTGGGGGG CTGCTGTTTTGATGTGGGGTTGGGAGGCTGCTGTCTTGATGGGGGCTTAG GGGGGCTGCTGTTTTGATAGGGGGTTGGGGGCTGCTGTTTTGATAGGGGT TGGGAGGCTGCTGTTTTGATAGGGGTTGGGGGGCTGCTGTTTTGATGGGG TCTGGGGGCTGCTGTTTTGATGAGGGGTTGGGGGCTGCTGTTTTGATACG GGTTGGGGGGGCTGTTGTCTTGATG	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(547): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	554	c.-10 others(565): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTAT GATATATAAATATAAATTTTTATATATTTATATTTATGATATATAAATAT AAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(547): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18965.hp1 NA19064.hp2 HG00544.hp1 NA18965.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	418	0.0072	554	c.-10 others(565): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTAT GATATATAAATATAAATTTTTATATATTTATATTTATGATATATAAATAT AAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(547): Show GGGGAGGGAAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGA GAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAG GAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGG AGGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0037 a0001c0010t0028g0037	1	228	0.0044	554	c.259 others(575): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCT CCCTCCCATCCCTCCTTTCCTTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(547): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCACC ACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCAT CCATCCACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCC ATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCA CCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACT CATCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0048 a0048	a0048c0026 a0048c0026	a0048c0026t0032 a0048c0026t0032	a0048c0026t0032g0141 a0048c0026t0032g0141	1	262	0.0038	554	c.775 others(569): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGA ATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAAT GGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTAT ATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTT GATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAAT GGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(547): Show ATATAGTATATATATTCTGTATACAGAATATATATAGTATATATATTCTG TATACAGAATATATATAGTATATATATTCTGTATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATATTCTGTATATAGAATATATATACTATATATATTCTATATATAG AATATATATAGTATATATATTCTATATATAGAATATATATAGAATATATA TAGTATATATATTCTATATATAGAATATATATAGTATATATATTCTATAT ATAGAATATATATAGTATATATTCTGTATATAGAATATATATACTATATT AATTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	236	0.0042	554	c.409 others(573): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATACTATATATATTCTATATATAGAATATATATACTATA TATATTCTATATATAGAATATATATACTATATATATTCTATATATATTCT ATATATAGAATATATATACTATATATATTCTATATATAGAATATATATAG TATATATATTCTATATACAGAATATATATATAGTATATATATTCTATATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATAGTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATATATATTCTGTATATAGAATATATATACTATATATATTCT GTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAC TATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATACA GAATATATATACTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTGTATACAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(547): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGGGGA GGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	301	0.0033	554	c.125 others(575): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCT CCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCT CCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTT CACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TTATATAT others(547): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATTATATATAATATTTTATATATATAATATATATATTATA TATAATATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATAATATATATATTAT ATATAAAATATATATCATATATATAATATATATATTATATATAAAATATA TATCATATATATAATATATATATTATATATAAAATATATATCATATATAT AATATATATATTATATATAAAATATATATCATATATATAATATATATATT ATATATAAAATATATATCATATATATAATATATATTATATATAAAATATA TATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0033 a0001c0001t0001g0034	2	193	0.0104	554	c.-46 others(565): Show c.-4636_-4635insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATTATATATAATATTTTATATATAT AATATATATATTATATATAATATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATATTATATATAAAATATATATCATATATATAATATATATAT TATATATAAAATATATATCATATATATAATATATATATTATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT TATATATAAAATATATATCA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(547): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATTATATATAATATTTTATATATATAATATATATATTATA TATAATATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATAATATATATATTAT ATATAAAATATATATCATATATATAATATATATATTATATATAAAATATA TATCATATATATAATATATATATTATATATAAAATATATATCATATATAT AATATATATATTATATATAAAATATATATCATATATATAATATATATATT ATATATAAAATATATATCATATATATAATATATATTATATATAAAATATA TATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0225 a0001c0002t0002g0226	2	248	0.0081	554	c.36 others(565): Show c.3671_*3672insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATTATATATAATATTTTATATATAT AATATATATATTATATATAATATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATATTATATATAAAATATATATCATATATATAATATATATAT TATATATAAAATATATATCATATATATAATATATATATTATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT TATATATAAAATATATATCA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194421120	A A	ATATATAT others(547): Show ATATATATATATATATATATATATATATATATAGTTTATATATATATAGT TTATATATATATACTATATATATAGTTTATATATAAACTATATATAGTAT ATATATATACTATATATATAGTATATATATATACTATATATATAGTATAT ATATATACTCTATATATATACTATATATATAGTATATATATATACTATAT ATAGTATATATATATACTATATATAGTATATATATATACTATATATAGTT TATATATATATACTATATATATAGTTTATATATATATATACTATATATAG TATATATATATATAAACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATAAACTAT ATATATAGTTTATATATATAGTTTATATATATATACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTATATATATATATACTATATATATAGTTTATATATATATACTATATA TATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0007 a0001c0001t0041g0007	1	304	0.0033	554	c.331 others(573): Show c.3314-1154_3314-1153insCTATATATATAGTATATATATATAAA CTATATATATAGTATATATATATATACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATAAACTATATATATAGTATATA TATATAAACTATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTATATATATAAACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATATACTATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATAGTATATATAT ATACTATATATAGTATATATATATACTATATATAGTATATATATATACTA TATATATAGTATATATATAGAGTATATATATATACTATATATATAGTATA TATATATACTATATATATAGTATATATATATACTATATATAGTTTATATA TAAACTATATATATAGTATATATATATAAACTATATATATATAAACTATA TATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B4GALNT4_chr11_364499_387117	374967	A A	AAGGGAGG others(547): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	184	0.0054	554	c.784 others(569): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(547): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTATGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	144	0.0069	554	c.354 others(573): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTTTACAAAAAGG AACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATCA TGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAAA AGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATACC AACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAAA GACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATAC CCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCACC AAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCATAATGGAATT AAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAAA TTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATAG TACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAAA ATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(547): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01167.hp1 others(21): Show HG00621.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp2 HG01496.hp1 HG01891.hp2 HG02027.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02451.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 NA18906.hp1 NA18981.hp2 NA18995.hp1 NA19002.hp2 NA19057.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0002g0140 others(21): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0002g0140 a0001c0001t0003g0003 a0001c0001t0003g0088 a0001c0001t0004g0031 a0001c0001t0004g0074 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0007g0085 a0001c0001t0008g0043 a0001c0001t0008g0083 a0001c0001t0010g0089 a0001c0001t0022g0117 a0001c0001t0023g0144 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0010g0090 a0001c0002t0019g0107 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072	24	144	0.1667	554	c.354 others(573): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTTTACAAAAAGG AACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATCA TGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAAA AGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATACC AACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAAA GACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATAC CCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCACC AAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAATT AAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAAA TTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATAG TACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAAA ATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(547): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAGAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA18522.hp1 HG03130.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0021 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0004g0021 a0001c0001t0007g0081 a0001c0001t0007g0084	3	144	0.0208	554	c.354 others(573): Show c.354+10718_354+10719insTTTTTTTTTTTTTCTTTACAAAAAGG AACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATCA TGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAAA AGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATACC AACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAAA GACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATAC CCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCACC AAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAATT AAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAAA TTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATAG TACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAAA ATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54736093	A A	ACATATAT others(547): Show ACATATATATACGTATATATATATACATATATATACGTATATATATATAC GTATATATATACATATATACGTATATATATATATACGTATATATATGTAT ATATATACGTATATATATATACATATATATACGTATATATATACATATAT ATACGTATATATATATACATATATATACGTATATATATATACGTATATAT ACGTATATATATATACGTATATATACGTATATATATACGTATATATACGT ATATATATATACATATATATACGTATATATATATACGTATATATATACAT ATATACGTATATATATATATATACGTATATATATGTATATATATACGTAT ATATATATACATATATATACGTATATATATACATATATACGTATATATAT ATATACGTATATATATGTATATATATACGTATATATATATACATATATAT ACGTATATATACATATATATACGTATATATATGTATATATATATACGTAT ATATATACATATATATATACGTATATATATGTATATATATATACGTATAT ATATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	118	0.0085	554	c.116 others(575): Show c.1168-16506_1168-16505insCATATATATACGTATATATATATA CATATATATACGTATATATATATACGTATATATATACATATATACGTATA TATATATATACGTATATATATGTATATATATACGTATATATATATACATA TATATACGTATATATATACATATATATACGTATATATATATACATATATA TACGTATATATATATACGTATATATACGTATATATATATACGTATATATA CGTATATATATACGTATATATACGTATATATATATACATATATATACGTA TATATATATACGTATATATATACATATATACGTATATATATATATATACG TATATATATGTATATATATACGTATATATATATACATATATATACGTATA TATATACATATATACGTATATATATATATACGTATATATATGTATATATA TACGTATATATATATACATATATATACGTATATATACATATATATACGTA TATATATGTATATATATATACGTATATATATACATATATATATACGTATA TATATGTATATATATATACGTATATATATG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736120	C C	CGTATATA others(547): Show CGTATATATATATACATATATATACGTATATATATACGTATATATACGTA TATATATATACATATATATACGTATATATATATACGTATATATACGTATA TATATATACGTATATATACGTATATATATACGTATATATACGTATATATA TATACATATATATACGTATATATATATACGTATATATATGTATATATATA TACGTATATATACGTATATATATACGTATATATATGTATATATATATACG TATATATATACATATATATACGTATATATATATATATACGTATATATGTA TATATATACGTATATATATATACGTATATATATGTATATACGTATATATG TATATACGTATATATATATATACGTATATATATGTATATATATACGTATA TATATATACATATATATACGTATATATATATACATATATATACGTATATA TATGTATATATATATACGTATATATATACATATATATATACGTATATATA TGTATATATATATACGTATATATATGTATATATATATACGTATATATATA TACAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	118	0.0085	554	c.116 others(575): Show c.1168-16479_1168-16478insGTATATATATATACATATATATAC GTATATATATACGTATATATACGTATATATATATACATATATATACGTAT ATATATATACGTATATATACGTATATATATATACGTATATATACGTATAT ATATACGTATATATACGTATATATATATACATATATATACGTATATATAT ATACGTATATATATGTATATATATATACGTATATATACGTATATATATAC GTATATATATGTATATATATATACGTATATATATACATATATATACGTAT ATATATATATATACGTATATATGTATATATATACGTATATATATATACGT ATATATATGTATATACGTATATATGTATATACGTATATATATATATACGT ATATATATGTATATATATACGTATATATATATACATATATATACGTATAT ATATATACATATATATACGTATATATATGTATATATATATACGTATATAT ATACATATATATATACGTATATATATGTATATATATATACGTATATATAT GTATATATATATACGTATATATATATACAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar

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Search Results (Total: 10000 hits)