Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LHPP_chr10_124456823_124619141	124471443	A A	ATATATTT others(599): Show ATATATTTATATATTATATATATTTATATATATTTTATATATATTTATAT ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TATTATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01496.hp2 others(2): Show HG00323.hp1 HG01074.hp2 HG01496.hp2 HG01952.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0001g0253	5	260	0.0192	606	c.125 others(623): Show c.125+9459_125+9460insATTTATATATTATATATATTTATATATA TTTTATATATATTTATATATATATAAATTTTTTTTATATTTATATATTTT TTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTAT ATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTAT ATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTAT ATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATATTT ATATATTTATATGTATTTATACATATATATTTATATGTATTTATACATAT ATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(599): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTATATATGATATAATAT ATAATTATATTATATATGATATAATATATAATTATATTATATATTATATC ATATATAATTATATTATATATTATATCATATATAATTATATTATATATTA TATCATATATAATTATATTATATATTATATCATATATAATTATATTATAT ATTATATCATATATAATTATATTATATATTATAATACATTTAATATAATT ATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATA TATAATATATTATATATAATTATATTATAACATATTATATATAATTATAT TATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATA ATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAGAA TATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18963.hp2 NA18979.hp2 others(1): Show NA18954.hp1 NA18963.hp2 NA18979.hp2 NA18990.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0036 a0004c0005t0001g0007 a0004c0005t0001g0036	4	288	0.0139	606	c.-32 others(617): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATAATATAATTATATTATATAATTATATTATAATTATATAATATAGAA TATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATAT TATATAATTATATTATATAGAATATAATTATATATTATATAATTATATTC TATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(599): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAG CCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp1 HG01884.hp1 HG03579.hp1	a0009 a0032 a0009 a0032	a0009c0009 a0032c0042 a0009c0009 a0032c0042	a0009c0009t0029 a0032c0042t0033 a0009c0009t0029 a0032c0042t0033	a0009c0009t0029g0270 a0032c0042t0033g0276 a0009c0009t0029g0270 a0032c0042t0033g0276	2	292	0.0069	606	c.377 others(623): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCCATCC others(599): Show CCCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCC ACCTGTCCACCCATCCACCCATTCATCCACCCCACCCACCCATCCATCCA TCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATC CATCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCA TCCATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACT TGTCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCA ACCATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATC CATCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGA CTTGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATC CATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0106 a0001c0002t0004g0106	1	372	0.0027	606	c.55 others(617): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGGTGGATG AATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGG TTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGAACAGGTGGATGGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(599): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGAT GATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGA TGGGGGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0232 a0001c0004t0005g0232	1	250	0.0040	606	c.748 others(623): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGAGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGGGGTGATGGTGGTGATGGTGA TGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTG ATGGTGGTGGTGGTGATGGGGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL10_chr17_47818272_47836541	47820538	G G	GTGAAATG others(599): Show GTGAAATGCCACCGTAGCTCAGAGACTTCTCTGCCATGATCTTGCAGAAA ACTCCCCAGCCTCCCACCAATTAATCTCCATATTATCTAGTGCTTGGAGA AACTGAGGCCTGAGATAGCCCCCATTTTCCCATGTCTCCTCCCACCAAAC ATGCCCCTAGGATGCCCTTTTTGGACCCTCAGTACCCCCTAAAGCCTCAC CATCCCCTGTCTACCCTCACAGTCCTTGGGGCTCTGAGAAGTGCCACCCA CCCAGAGAGGGCAGGACATTGGGCTAAAGGAGATACTTCATGAGAGAAGA GGGGGCCCAGGACATGCCCAGGTCTGCACAGGTCCTGCAGCAGTGCCCAC AGGCACCCTTGGCACTGGCCCTGGCCATCCTGGCTCCACCGGGAGATCAA TAATGCATGAGGCTCTGCATGTGTGAGACGGGGGAGGGGACTGGAGGGGC GAGGCTGGTTTGAGGTGGGGGAAGCAGCCCAGATCTTCTAATGGAGCTAG CAAGCACCTGAGGAACTGAGGCCCAGAGGGGACAGGGATGTGGCAGGAAC GGGTGCCCAGGAGGTTGGGGCAGAGGGACCCTTGCTGCAAGAGGCTGACC TGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	390	0.0026	606	c.36 others(617): Show c.3666_*3667insACTCCCAGGTCAGCCTCTTGCAGCAAGGGTCCCT CTGCCCCAACCTCCTGGGCACCCGTTCCTGCCACATCCCTGTCCCCTCTG GGCCTCAGTTCCTCAGGTGCTTGCTAGCTCCATTAGAAGATCTGGGCTGC TTCCCCCACCTCAAACCAGCCTCGCCCCTCCAGTCCCCTCCCCCGTCTCA CACATGCAGAGCCTCATGCATTATTGATCTCCCGGTGGAGCCAGGATGGC CAGGGCCAGTGCCAAGGGTGCCTGTGGGCACTGCTGCAGGACCTGTGCAG ACCTGGGCATGTCCTGGGCCCCCTCTTCTCTCATGAAGTATCTCCTTTAG CCCAATGTCCTGCCCTCTCTGGGTGGGTGGCACTTCTCAGAGCCCCAAGG ACTGTGAGGGTAGACAGGGGATGGTGAGGCTTTAGGGGGTACTGAGGGTC CAAAAAGGGCATCCTAGGGGCATGTTTGGTGGGAGGAGACATGGGAAAAT GGGGGCTATCTCAGGCCTCAGTTTCTCCAAGCACTAGATAATATGGAGAT TAATTGGTGGGAGGCTGGGGAGTTTTCTGCAAGATCATGGCAGAGAAGTC TCTGAGCTACGGTGGCATTTCA	MRPL10	ENSG00000159111.13	transcript	ENST00000351111.7	protein_coding		2733		chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537750	C C	CCTGTCCG others(599): Show CCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGG GTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCAGGATGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCC AGCCGTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	256	0.0039	606	c.241 others(625): Show c.241+14355_241+14356insCACGGCTGGCCAGGCGGGGGACTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACAG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(599): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0070 a0004c0005t0008g0070	1	330	0.0030	606	c.-5+ others(621): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATATAATATATAAAATAAGATTTTATATATATAAAAA TATATATAAATATATATAAAATAAGATTTTATATATATAAAATATATATA AAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(599): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	364	0.0028	606	c.394 others(621): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(599): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	364	0.0028	606	c.394 others(621): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(599): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19054.hp2 NA19012.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0304 a0001c0001t0001g0236 a0001c0001t0001g0304	2	364	0.0055	606	c.394 others(621): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(599): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATGCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	364	0.0028	606	c.394 others(621): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATGCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(599): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp1 HG02523.hp2 others(19): Show HG00544.hp2 HG02040.hp1 HG02523.hp2 NA18612.hp1 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18972.hp2 NA18985.hp2 NA18988.hp1 NA18993.hp2 NA19006.hp1 NA19011.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0098 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256	22	364	0.0604	606	c.394 others(621): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(599): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18999.hp1 NA18997.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	364	0.0055	606	c.394 others(621): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158668012	T T	TCCCTTAC others(599): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTA CCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGC CTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGT CCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCTC CTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC TACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTA GGCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	378	0.0027	606	c.148 others(625): Show c.1480-3263_1480-3262insGAGGGCCTAGGGACACAAGGTAGGTA AGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGT AGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTA GGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAACGG GGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTG GGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOL4L_chr20_32438059_32590333	32563138	A A	AGTGCAGG others(599): Show AGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAGAAGGTA AGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGTGGAGGG AGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAGGGAGGG TGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGA AGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGTGGA GGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGG GCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGAGGG TGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGAGGGGAG GGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGAGGGAGG GTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAGGGTGGA GGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAG GGTGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	196	0.0051	606	c.321 others(625): Show c.321+21431_321+21432insCTCCACCCTCCCTCCCCTCCACCTTC CCCACTCTCCCTCCCTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACT CTCCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCC TGCTCTCCACCCTCCCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCA CTGTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCC CTCCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCT CCCTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCC CTCCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCC CCCTGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTC CATCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCC CTGTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCT TCCACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCCTCC CCACTCTCCCTCCCTCCACCCTCCCTGCAC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
OSBPL7_chr17_47802372_47826794	47820538	G G	GTGAAATG others(599): Show GTGAAATGCCACCGTAGCTCAGAGACTTCTCTGCCATGATCTTGCAGAAA ACTCCCCAGCCTCCCACCAATTAATCTCCATATTATCTAGTGCTTGGAGA AACTGAGGCCTGAGATAGCCCCCATTTTCCCATGTCTCCTCCCACCAAAC ATGCCCCTAGGATGCCCTTTTTGGACCCTCAGTACCCCCTAAAGCCTCAC CATCCCCTGTCTACCCTCACAGTCCTTGGGGCTCTGAGAAGTGCCACCCA CCCAGAGAGGGCAGGACATTGGGCTAAAGGAGATACTTCATGAGAGAAGA GGGGGCCCAGGACATGCCCAGGTCTGCACAGGTCCTGCAGCAGTGCCCAC AGGCACCCTTGGCACTGGCCCTGGCCATCCTGGCTCCACCGGGAGATCAA TAATGCATGAGGCTCTGCATGTGTGAGACGGGGGAGGGGACTGGAGGGGC GAGGCTGGTTTGAGGTGGGGGAAGCAGCCCAGATCTTCTAATGGAGCTAG CAAGCACCTGAGGAACTGAGGCCCAGAGGGGACAGGGATGTGGCAGGAAC GGGTGCCCAGGAGGTTGGGGCAGAGGGACCCTTGCTGCAAGAGGCTGACC TGGGAGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0110 a0006c0013t0001g0110	1	402	0.0025	606	c.-87 others(621): Show c.-87-174_-87-173insACTCCCAGGTCAGCCTCTTGCAGCAAGGGT CCCTCTGCCCCAACCTCCTGGGCACCCGTTCCTGCCACATCCCTGTCCCC TCTGGGCCTCAGTTCCTCAGGTGCTTGCTAGCTCCATTAGAAGATCTGGG CTGCTTCCCCCACCTCAAACCAGCCTCGCCCCTCCAGTCCCCTCCCCCGT CTCACACATGCAGAGCCTCATGCATTATTGATCTCCCGGTGGAGCCAGGA TGGCCAGGGCCAGTGCCAAGGGTGCCTGTGGGCACTGCTGCAGGACCTGT GCAGACCTGGGCATGTCCTGGGCCCCCTCTTCTCTCATGAAGTATCTCCT TTAGCCCAATGTCCTGCCCTCTCTGGGTGGGTGGCACTTCTCAGAGCCCC AAGGACTGTGAGGGTAGACAGGGGATGGTGAGGCTTTAGGGGGTACTGAG GGTCCAAAAAGGGCATCCTAGGGGCATGTTTGGTGGGAGGAGACATGGGA AAATGGGGGCTATCTCAGGCCTCAGTTTCTCCAAGCACTAGATAATATGG AGATTAATTGGTGGGAGGCTGGGGAGTTTTCTGCAAGATCATGGCAGAGA AGTCTCTGAGCTACGGTGGCATTTCA	OSBPL7	ENSG00000006025.13	transcript	ENST00000007414.8	protein_coding	1/22			chr17	TogoVar
PHF21B_chr22_44876162_45015005	44883981	C C	CCACCATC others(599): Show CCACCATCACCACCACCATGATCACCATTATCACCACCGCCACCACCATC ACTGTGATCAGCACCATCACCACCACCATGATCACCATTATCACCACTGC CACCACCATCACTGTGATCAGCACCATCACCACCACCATGATCACCATTA TCACCACCGCCACCATCACTGTGATCAGCACCACCACCACCATCACCACC ACCATGATCACCATTATCACCACCGCCACCACCATCACTGTGATCAGCAC CATCACCATCATGATCACCATTATCACCACCACCACCATCACTGTGATCA GCACCATCACCACCATCATTACCACCATCACCACCACGATCACCAACGTC ACCACCACCACCACTGTGATCAGCACCATCACCACCATCATCACTACCAC CATCACCACCACCATGATCACCATTATCACCACCACCATCACTGTGATCA GCACCATCACCACCATCATTACCACCATCACCACCACGATCACCAACGTC ACCACCACCACCACCACTGTGATCAGCACCATCACCACCATCATCACTAC CACCATCACCACCACCGTGATCACCATTATCACCACCACCACCATCACTG TGATCAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02976.hp1 others(3): Show HG02280.hp1 HG02809.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 others(3): Show a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0106 a0001c0002t0018g0012	6	300	0.0200	606	c.137 others(623): Show c.1378-678_1378-677insCTGATCACAGTGATGGTGGTGGTGGTGA TAATGGTGATCACGGTGGTGGTGATGGTGGTAGTGATGATGGTGGTGATG GTGCTGATCACAGTGGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGT GATGGTGGTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGG TGATAATGGTGATCATGGTGGTGGTGATGGTGGTAGTGATGATGGTGGTG ATGGTGCTGATCACAGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGT GATGGTGGTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGG TGGTGATAATGGTGATCATGATGGTGATGGTGCTGATCACAGTGATGGTG GTGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGGTGGTGGT GCTGATCACAGTGATGGTGGCGGTGGTGATAATGGTGATCATGGTGGTGG TGATGGTGCTGATCACAGTGATGGTGGTGGCAGTGGTGATAATGGTGATC ATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGCGGTGGTGAT AATGGTGATCATGGTGGTGGTGATGGTG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PIAS4_chr19_4002736_4044386	4035959	A A	ACACCCGC others(599): Show ACACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACA CATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAG TCCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATA ACACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACA CCCGCACACATCCATACAGTCCATACCATCACACACACCCACACACATCC ATACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCAC ACCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACA CACACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCAC ACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACA GTCCACACCGTCTCACACACACACCCGCACACATCCATACAGTCCACACC ATAACACACACACCTGCACACATCCATACAGTCCACACCATCACACACAC ATCCATACAATCCACACCGTCACACACATCCATACAGTCCACACCATCAC ACACATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	334	0.0030	606	c.114 others(625): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCATACAGTCCATACCAT CACACACACCCACACACATCCATACAGTCCACACCATAACACACACACCC GCACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACAC ACACCCGCACACATCCATACAGTCCACACCGTCTCACACACACACCCGCA CACATCCATACAGTCCACACCATAACACACACACCTGCACACATCCATAC AGTCCACACCATCACACACACATCCATACAATCCACACCGTCACACACAT CCATACAGTCCACACCATCACACACATCCA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	397940	A A	ATCACCTC others(599): Show ATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCA CATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACA CCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCC CGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTC CCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCG TCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACAC ACCTGCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	216	0.0046	606	c.106 others(623): Show c.1068+286_1068+287insGTACACCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACA CCTGTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCC GCACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCG TACCCCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137518173	G G	GTCCACTC others(599): Show GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC ACTCACTCACTCCACTCTGTCCACTCCATCCCTCATTCACTCACTCCACT CTGCTCACTCCATCCCCCACTCACTGACTCCACTCTGTCCACTCCATCCC CCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCGA CTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATC CCCCGTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCC ACTCTGTCCACTCCATCCCCCACTCACGCACTCACTCCACTCTGTCCACT CCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACT CACTCCACTCTGTCCACTCCATCCCTCATTCACTCACTCCACTCTGCTCA CTCCATCCCCCACTCACTGACTCCACTCTGTCCACTCCATCCCCCACTCA CTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCATTCCACTCTGTC CACTCCATCCCTCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACT CACTGAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	188	0.0053	606	c.108 others(625): Show c.1084+1743_1084+1744insGTCAGTGAGTGGGGGATGGAGTGAGC AGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAATGAGTGA GTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGG ACAGAGTGGAGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGT GAATGAGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGT GAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGA GTGCGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGA TGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGG AGTGAGTGAGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGT GGAGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAG GGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGA GTGGAGTGAGTGAGTGGGGGATGGAGTGGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(599): Show AAAAAAAAATGGGTGTCACTCTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18940.hp1 NA18997.hp2 HG02015.hp1 NA18940.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0158 a0001c0001t0002g0034 a0001c0001t0018g0043 a0001c0001t0001g0158 a0001c0001t0002g0034 a0001c0001t0018g0043	3	320	0.0094	606	c.98- others(621): Show c.98-1446_98-1445insCTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGACAAAAAAAATGGGTGTCACT	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(599): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGACTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 NA20129.hp1 HG02615.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0022g0264 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0022g0264	3	320	0.0094	606	c.98- others(621): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA CTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAA CAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAG CCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAA AAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(599): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(106): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0001t0033 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0003c0003t0004 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0017 a0003c0003t0020 a0004c0004t0005 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 others(106): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0147 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0181 a0001c0001t0003g0268 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0303 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0006g0068 a0001c0001t0006g0271 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0007g0010 a0001c0001t0007g0012 a0001c0001t0007g0052 a0001c0001t0012g0074 a0001c0001t0012g0075 a0001c0001t0012g0076 a0001c0001t0014g0191 a0001c0001t0014g0192 a0001c0001t0016g0312 a0001c0001t0029g0109 a0001c0001t0033g0037 a0002c0002t0001g0042 a0002c0002t0001g0049 a0002c0002t0003g0275 a0002c0002t0003g0316 a0002c0002t0007g0094 a0003c0003t0004g0001 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0035 a0003c0003t0004g0087 a0003c0003t0004g0093 a0003c0003t0004g0097 a0003c0003t0004g0110 a0003c0003t0004g0127 a0003c0003t0004g0169 a0003c0003t0009g0001 a0003c0003t0009g0096 a0003c0003t0011g0297 a0003c0003t0013g0080 a0003c0003t0013g0290 a0003c0003t0013g0291 a0003c0003t0017g0253 a0003c0003t0020g0276 a0004c0004t0005g0256 a0004c0004t0005g0257 a0004c0004t0005g0258 a0005c0005t0001g0072	109	320	0.3406	606	c.98- others(621): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAA CAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAG CCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAA AAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(599): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATGTGTATATATATATATGTATATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	320	0.0031	606	c.98- others(621): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATGTGTATATATATATATGTATATATATATATATA TTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAA CAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAG CCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAA AAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(599): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GATATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0292 a0003c0003t0011g0292	1	320	0.0031	606	c.98- others(621): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGATATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAA CAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAG CCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAA AAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP2R2D_chr10_131896008_131964834	131918830	C C	CAGGGGTG others(599): Show CAGGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACA GTGTAGGGACCTCACATGGGTGGAATGGCACAGCGTTTGTAGGGACCTCA GGCGGATGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACA GTGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGAC CTCAGGCGAGCGGGATGACACAGTGTAGGGACCTCAGGCGGGTGGAGTGA CACAGTGTTTGTAGGGACGTCAGGCGGCTGGAATGACAGTGTAGGGACCT CAGGCGGGTGGAATGACACAGTGTAGGGATCTCACATGGGTGGAATGACA CAGTGCTTGTAGCGACCTCAGGCGGGCGGAATGACACAGTGTAGGGACCT CAGGCGGGTGGAATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCACA GCGTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGGAC CTCAGGCGGGTGGAATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCA CAGCGTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGG ACCTCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0252 a0001c0001t0025g0252	1	394	0.0025	606	c.101 others(625): Show c.101-15628_101-15627insAGGGGTGGAATGACACAGTGTAGGGA CCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCACATGGGTGGAATG GCACAGCGTTTGTAGGGACCTCAGGCGGATGGAATGACACAGTGTAGGGA CCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGG AATGACACAGTGTTTGTAGGGACCTCAGGCGAGCGGGATGACACAGTGTA GGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGTAGGGACGTCAGGCGG CTGGAATGACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGG GATCTCACATGGGTGGAATGACACAGTGCTTGTAGCGACCTCAGGCGGGC GGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACAGTGTAGGGA CCTCACGTGGGTGGAATGGCACAGCGTTTGTAGGGACCTCAGGCAGGTGG AATGACACAGTCTTTGTAGGGACCTCAGGCGGGTGGAATGACAGTGTAGG GACCTCACGTGGGTGGAATGGCACAGCGTTTGTAGGGACCTCAGGCAGGT GGAATGACACAGTCTTTGTAGGGACCTCAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8			chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131918830	C C	CAGGGGTG others(599): Show CAGGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACA GTGTAGGGACCTCACATGGGTGGAATGGCACAGCGTTTGTAGGGACCTCA GGCGGATGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACA GTGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGAC CTCAGGCGAGCGGGATGACACAGTGTAGGGACCTCAGGCGGGTGGAGTGA CACAGTGTTTGTAGGGACGTCAGGCGGCTGGAATGACAGTGTAGGGACCT CAGGCGGGTGGAATGACACAGTGTAGGGATCTCACGTGGGTGGAATGACA CAGTGCTTGTAGCGACCTCAGGCGGGCGGAATGACACAGTGTAGGGACCT CAGGCGGGTGGAATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCACA GCGTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGGAC CTCAGGCGGGTGGAATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCA CAGCGTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGG ACCTCAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0253 a0001c0001t0025g0253	1	394	0.0025	606	c.101 others(625): Show c.101-15628_101-15627insAGGGGTGGAATGACACAGTGTAGGGA CCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCACATGGGTGGAATG GCACAGCGTTTGTAGGGACCTCAGGCGGATGGAATGACACAGTGTAGGGA CCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGG AATGACACAGTGTTTGTAGGGACCTCAGGCGAGCGGGATGACACAGTGTA GGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGTAGGGACGTCAGGCGG CTGGAATGACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGG GATCTCACGTGGGTGGAATGACACAGTGCTTGTAGCGACCTCAGGCGGGC GGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACAGTGTAGGGA CCTCACGTGGGTGGAATGGCACAGCGTTTGTAGGGACCTCAGGCAGGTGG AATGACACAGTCTTTGTAGGGACCTCAGGCGGGTGGAATGACAGTGTAGG GACCTCACGTGGGTGGAATGGCACAGCGTTTGTAGGGACCTCAGGCAGGT GGAATGACACAGTCTTTGTAGGGACCTCAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8			chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2124224	C C	CGGCTATA others(599): Show CGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCA TGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG02148.hp2 others(2): Show HG00140.hp2 HG01496.hp1 HG02148.hp2 HG02486.hp1 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0125 a0001c0003t0001g0262 a0001c0003t0001g0263 others(2): Show a0001c0003t0001g0125 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0003g0198	5	286	0.0175	606	c.335 others(625): Show c.335-11036_335-11035insCTATAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT TAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTC ACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(599): Show AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGG TCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	286	0.0035	606	c.335 others(625): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(599): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18975.hp1 NA18970.hp2 NA18975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0134 a0001c0005t0001g0013 a0001c0005t0001g0134	2	330	0.0061	606	c.-51 others(617): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RBBP8_chr18_22928328_23031486	23022668	T T	TAAAATAA others(599): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAA AATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAT AAAATAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	330	0.0030	606	c.259 others(623): Show c.2596+401_2596+402insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATATAAAATAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAATAAAATAAAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RFC1_chr4_39282456_39371362	39348470	A A	AAAAGAAA others(599): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA AAGAAAAGAAACGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGA AAAGAAAGAAGAAAAGAAAAGAAAGACAAGAAAAGAAGAAAGAAAGAAAA GAAAGAAGACGAAAAGAAAAGAAAAGAAAAGTCAAGAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGAAAACGCGCTATCTCAGAGTAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AGAAAAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	276	0.0036	606	c.132 others(623): Show c.132+2877_132+2878insCTTTTCTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTACTCTGAGATAGCGCGTTTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTGACT TTTCTTTTCTTTTCTTTTCGTCTTCTTTCTTTTCTTTCTTTCTTCTTTTC TTGTCTTTCTTTTCTTTTCTTCTTTCTTTTCTTTTCTTTTCTTTTTCTTT TCTTTTCTTTTCTTTTCGTTTCTTTTCTTTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(599): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	308	0.0033	606	c.-75 others(625): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATAAA CTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTA TAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATA TTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(599): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0200 a0001c0001t0008g0200	1	308	0.0033	606	c.-75 others(625): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATAAA CTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTA TAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATA TTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(599): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02055.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0233 a0001c0001t0008g0236 a0001c0001t0008g0233 a0001c0001t0008g0236	2	308	0.0065	606	c.-75 others(625): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATAAA CTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTA TAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATA TTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCCCGTGT others(599): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	606	c.166 others(623): Show c.1662+336_1662+337insTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280962	G G	GGCCACCC others(599): Show GGCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCCCTC AGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCT CCTCAGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCT CCCCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTCCTGTCAC CTCCCTCCTCAGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTG TCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTC CTGTCACCTCCCCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGCCACCC TCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCTCCTCAGCC ACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCCCTCA GCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTCCTGTCACCTCCCTCC TCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCT CCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTC CTCCTCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0198 a0001c0006t0011g0198	1	280	0.0036	606	c.484 others(625): Show c.484+10083_484+10084insTGAGGAGGAGGTGACAGGAGGGTGGC TGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTG GCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGG GTGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGA GGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGAC AGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGT GACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGAGGGGGAG GTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAG GGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGA GGGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGCT GAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGT GGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAG GGTGGCTGAGGGAGATGACAGGAGGGTGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SHANK1_chr19_50654255_50724802	50679070	A A	ATGGGGAG others(599): Show ATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATG GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18964.hp1 HG00423.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0057 a0001c0002t0001 a0001c0002t0057	a0001c0002t0001g0118 a0001c0002t0057g0033 a0001c0002t0001g0118 a0001c0002t0057g0033	2	316	0.0063	606	c.257 others(625): Show c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG ACCCCTCTCCATCACACTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(599): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAG ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTC AGAGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0120 a0001c0001t0088g0120	1	330	0.0030	606	c.970 others(625): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA GACAGGTGGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC1A2_chr11_35246205_35424558	35248528	T T	TAGGGGTC others(599): Show TAGGGGTCTAGCAGTGCATGGATCACTAGAGGATTACTAGCAGTGCATGG ATCACCTGGGGATTACTAGTGGTGCATGGATCACCTGGGGATTACTAGCA GTGCATGGATCACCTGGGGATTACTAGCAGTCCATGGATCACCAGGTGAT TACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATAAC CTGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTACTAGCAGTGCA TGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGTGATTACTA GTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGG GATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGCAGTGCATGGAT CACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGT GCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGGGGATTA CTAGCAGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCA GGGGATTACTAGCAGTGTATGGATCACCAGGGGATTACAAGCGGTGTATG GATCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0276 a0001c0007t0084g0276	1	306	0.0033	606	c.12 others(619): Show c.12365_*12366insGGTGATCCATACACCGCTTGTAATCCCCTGGT GATCCATACACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAAT CCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATACACTG CTAATAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCC ATGCACCGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCT GGTGATCCATGGACCGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGT AATCCCCTGGTGATCCATGTAGCACTAGTAATCACCTGGTGATCCATGCA CCACTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCAGGTGA TCCATGGACTGCTAGTAATCCCCAGGTTATCCATGCACTGCTAGTAATCC CCTGGTGATCCATGTAGCACTAGTAATCACCTGGTGATCCATGGACTGCT AGTAATCCCCAGGTGATCCATGCACTGCTAGTAATCCCCAGGTGATCCAT GCACCACTAGTAATCCCCAGGTGATCCATGCACTGCTAGTAATCCTCTAG TGATCCATGCACTGCTAGACCCCT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2676		chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACTTC others(599): Show TCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTCCTCCTCCTCCACC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTC CTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCC ACCTCCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0107 a0001c0001t0011g0107	1	160	0.0063	606	c.688 others(623): Show c.688-2422_688-2421insCACTTCCTCCTCCACCTCCTCCTCTACC TCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTA CCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC6A3_chr5_1387794_1450440	1423006	C C	CCACAGTA others(599): Show CCACAGTACTGCCCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGT ACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCC AAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGCCCATGGTGCTGGGT ACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCT GCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCT GGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCG CTGCCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0128 a0001c0008t0005g0128	1	373	0.0027	606	c.654 others(621): Show c.654-993_654-992insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCG TGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCATGGGCAGCACTG TGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTG GGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAC CGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCACCTTGGGCAGTACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827232	A A	AACATATA others(599): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	302	0.0033	606	c.12+ others(621): Show c.12+3961_12+3962insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827261	A A	AACATATA others(599): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAATA TATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATAT AAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	302	0.0033	606	c.12+ others(621): Show c.12+3961_12+3962insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPAAR_chr9_35904490_35916686	35913508	G G	GAGTGTGT others(599): Show GAGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03098.hp1 others(1): Show HG01496.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0001t0001g0001 a0001c0001t0005g0002	4	420	0.0095	606	c.28 others(617): Show c.2817_*2818insAGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTAGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1823		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(599): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	322	0.0031	606	c.909 others(621): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(599): Show GGGGGTGGGAGCGGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGT GGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCG GGGTGGGAGACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG GTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGTGGGAGCGGGGTG GGAGAAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	364	0.0028	606	c.157 others(625): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCCG CTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCCCG CTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCT CTCTCCCCGTTCCCCCACCCCGCTCTCACCCCCGTTCCCCCACCCCGCTC TCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC TCCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCC CCACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCC ACCCCGTTCTCCCACCCCCTCCCACCCCCACCCCCGTTCTCCCACCCCTC CCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTG TCCCACCCCGCTCTCACCCCGTCTCCCACCCCGCTCCCACCCCCACCCCG TTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCC ACCCCGTTCTCCCACCCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(599): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCG GGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACG GGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGG GTGGGGGTGGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAA CGGGGTGAGAGCGGGGTGGGAGAGCGGGGGTGGGGGTGAGAGCGGGGTGG GAGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGG GAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGA ACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGTGGGAGCGGGGTG GGAGAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0003 a0011c0008t0003	a0011c0008t0003g0335 a0011c0008t0003g0335	1	364	0.0028	606	c.157 others(625): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCCG CTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCA CCCCGTTCTCCCACCCCCTCCCCACCCCCACCCCGTTCTCCCACCCCTCC CACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGT CCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCG TTCTCCCACCCCGTTCTCCCACCCCCGCTCCCACCCCCACCCCGTTCTCC CACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
THEG_chr19_356747_381026	376926	T T	TCTGTGCC others(599): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCC CCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCC GTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCC CCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	370	0.0027	606	c.-95 others(615): Show c.-957_-956insGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAG GCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGAGG GGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGG GGCACGGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAG GCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGA GAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		901		chr19	TogoVar

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