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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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
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(844): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGATACG GACATATTCACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATA CGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGT AGGACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGAT ACAGACATTCACGCGTTTGTACAGACATATTCACGCGTTTGTGTGATACA GATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACG GACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATA CGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGTGTTTGTGT GA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	851	c.367 others(868): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGATACGGACATA TTCACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCA TATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACA TATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGAC ATTCACGCGTTTGTACAGACATATTCACGCGTTTGTGTGATACAGATATA TTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCACGTGTTTGTGTGATACG GACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(844): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAA TACACAATATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTAT ATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCAT ATAATATATAATACATAATACATTATATATAAGCATATAACAATACATAA TA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	220	0.0046	851	c.24+ others(868): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATAATATGTAATACACAATATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAT TATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATAT TATACATTATTATATAAGCATATAATATATAATACATAATACATTATATA TAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79554390	C C	CACCTGGC others(844): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC CG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0102 a0001c0002t0006g0102	1	154	0.0065	851	c.-32 others(872): Show c.-320+56435_-320+56436insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(844): Show GTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCTTGCACCACACTAACAGTCGCCTTCACAAGCGACCGTGCACCA CACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACACTTACTAACAGT CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0065 a0001c0001t0009g0066 a0001c0001t0001g0065 a0001c0001t0009g0066	2	133	0.0150	851	c.-39 others(862): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCTGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCTTGTGAAGGCGACTGTTA GTGTGGTGCAAGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCAC GGTCGCCCGTGAAGACGACTGTTAGTATGTGTGGTGCACGGTCGCCCGTG AAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCTGTGAAGACGACTGT TAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTG GTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGT GAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT AAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(844): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	203	0.0049	851	c.167 others(866): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAG GAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGG GGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339864	A A	ACTCTATG others(844): Show ACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTA TGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCACT GCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCT CCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCA ACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCC CTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCC CTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAA CTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCAC TCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCTACTCTCC TCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCA CT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0014 a0005c0030t0014	a0005c0030t0014g0239 a0005c0030t0014g0239	1	280	0.0036	851	c.89- others(864): Show c.89-630_89-629insAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATG CTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTG GGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGG GGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGA TAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAG TGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGA GGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGG GTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTG GAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAA TGCTTGTGGGGGCATAGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(844): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0135 a0001c0001t0058g0135	1	322	0.0031	851	c.597 others(868): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCT CCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THAP8_chr19_36029984_36059285	36055621	A A	ACCAAGGT others(844): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGT GCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAG GGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTAT TCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	440	0.0023	851	c.-14 others(862): Show c.-1405_-1404insGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCTCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCA CCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGA CAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGACTG AGAAATCGGATGGTTGCCCTGTCTGTGTAGAAAGAAGTAGACATGGGAGA CTTTTCATTTTGTTCTGCACTAAGAAAAATTTCTCTGCCTTGGGATCCTG TTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTGAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAGAATCCCACCTTGG	THAP8	ENSG00000161277.11	transcript	ENST00000292894.2	protein_coding		1337		chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(844): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01517.hp2 others(1): Show HG01192.hp2 HG01516.hp1 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0002g0004 a0001c0001t0001g0003 a0001c0002t0002g0004	4	434	0.0092	851	c.-27 others(862): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGA CGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(844): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG02080.hp1 others(7): Show HG00280.hp1 HG01257.hp1 HG02080.hp1 HG02129.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp2 NA19055.hp1 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0025 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0001t0001g0025 a0001c0002t0002g0004 a0001c0002t0002g0029	10	434	0.0230	851	c.-27 others(862): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGA CGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMC6_chr17_78102397_78133755	78111931	A A	ATGACGGG others(844): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCAT GACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCC GCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGA GCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGA CGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCAC AGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGC ACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACG GGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAG ACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCAC AGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGAGGCTGACGGGCT GGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCT GGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGAACTGAG GCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTGGGCTGTGATGGGCTG GTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGGCTGGTCCCTGCAGAC CTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAG GC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0085 a0021c0030t0085	a0021c0030t0085g0283 a0021c0030t0085g0283	1	444	0.0023	851	c.12 others(862): Show c.1216_*1217insGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTC ATGACCCCAGTGCTCCAGGTCTGCAGGGACCAGCCCATGACAGCCCAGGG CTCCAGGTCTGCGGGGACCAGCCCATCACAGCCCAGGGCTCCAGGCCTGC GGGGACCAGCCCGTCAGCCTCAGTTCTCCAGGCCTGCGGGGACCAGCCCG TCATGACCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGC TCCAGGCCTGCAGGAACCAGCCCGTCAGCCTCAGTGCTCCAGGCCTGCGG GGACCAGCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCAT GACCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCA GGCCTGCGGGAACCAGCCCGTCATGACCCCAGTGCTCCAGGCCTGCGGGG ACCAGCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCATGA CCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCAGG CCTGTGGGGACCAGCCCGTCATGACCCCAGTGCTCCAGGTCTGTGGGGAC CAGCCCGTCAGCCTGTGCTCCAGGCCTGTGGGGACCAGCCCGTCATGACC CCAGTGCTCCAGGCCTGCGGGGACCAGCCCGTCAGCCTGTGCTCCAGGCC TGCGGGGACCAGCCCGTCATGACCCCAGTGCTCCAGGTCTGTGGGGACCA GCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCATGACCCC AGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCAGGCCTG TGGGGACCAGCCCGTCA	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	20/20	1216		chr17	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(844): Show TCTCCCCTCCCCTCTCCCCCCCTCCCTTCTCCCCTCCCCTCTCCCCCCCT CCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCT CTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCC TCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTC CCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCCCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCC TATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCA CC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	114	0.0088	851	c.-25 others(870): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCCT TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TNRC6C_chr17_77953703_78113822	78111931	A A	ATGACGGG others(844): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCAT GACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCC GCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGA GCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGA CGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCAC AGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGC ACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACG GGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAG ACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCAC AGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGAGGCTGACGGGCT GGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCT GGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGAACTGAG GCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTGGGCTGTGATGGGCTG GTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGGCTGGTCCCTGCAGAC CTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0265 a0001c0002t0031g0265	1	276	0.0036	851	c.70 others(862): Show c.7086_*7087insTGACGGGCTGGTCCCCACAGGCCTGGAGCACAGG CTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTG GTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCTG GAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCT GACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGT CCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGA GCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGA CGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCC CCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGC ACTGGGGTCATGACGGGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACG GGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCC GCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCAC TGAGGCTGACGGGCTGGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCT GGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAG GCCTGGAGAACTGAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTG GGCTGTGATGGGCTGGTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGG CTGGTCCCTGCAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGC AGGCCTGGAGCACAGGC	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding		3110		chr17	TogoVar
TWIST2_chr2_238843085_238915534	238871138	C C	CCACACCC others(844): Show CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACACACACATCACATACCACACACACATCACATACCACACACAAAC CACACACCACACACACACCACACACCCCACACACACATCACATACCACAC ACAAACCACACACCCAACACACACATCACACACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCCTACACACACCACACACCCCA CACACACATCACACACCACACACACCACACACACCCCACACACACCACAC ACACACATCACATACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACCACACACACACACCACACACACATCACATACC ACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCAC ACACCCCACACACACACCACACACCCCACACACACATCACATACCACACA CAAACCACACACCCCACACACCCCACACACCACACACACACCACACACCC CACACACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	338	0.0030	851	c.35 others(870): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACA CACCACACACACACATCACATACCACACACACATCACATACCACACACAA ACCACACACCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCAACACACACATCACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACATCACACACCACACACACCACACACACCCCACACACACCAC ACACACACATCACATACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACACACACCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC CCCACACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(844): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTG TGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTG TATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGTG TATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCTG TGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTG TATCTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTA TATGTGTGTATATGTGTGTGTACGTGTGTGTGTATGTGTGTATGTGTGTG TATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTG TATGTGTGTGTGTACGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTATATGCGTGTGTA TGCGTGTGTATGGGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTG TGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTG TATATGCGTGTGTATGTGTGTGTATGTGTGTGTATATGATGTGTGTGTAT ATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGT ATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGTGCGTGTGTGTGCGT GT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	468	0.0021	851	c.-6- others(866): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGT GTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGT ATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGT GTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGT ATGTGTGTGTGTATCTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTATGTGT GTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGT GTGTGTATGTGTATGTGTGTGTGTACGTGTGTGTATGTGTGTGTGTGTAT ATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTAT ATGCGTGTGTATGCGTGTGTATGGGTGTGTATATGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATATGTGTGTATGTGT GTATATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGT ATGTGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATATGA TGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTG TATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGTGCG TGTGTGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR62_chr19_36049897_36110108	36055621	A A	ACCAAGGT others(844): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGT GCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAG GGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTAT TCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0285 a0005c0016t0001g0285	1	420	0.0024	851	c.177 others(866): Show c.177+489_177+490insTTTTTTTTTTTTTTTTTTTTTTTTAATTTA TTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAG GGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAA AGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTT GTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCA TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTT GGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTT AGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGA CAGGGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTC TATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTT GGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCAAGGTGGGATTCTT	WDR62	ENSG00000075702.19	transcript	ENST00000401500.7	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAAAT others(845): Show TTATAAATATATAAATATATACATATTTATATATTTATAGATAAATATAT ACATATTTATATATTTATAGATAAATATATACATAATTATATATTTATAC ATAAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTT ATATTTATACATAAATGTATAAATATTTTTATATTTGTACATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATATAT AAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAAT ATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	306	0.0033	852	c.130 others(871): Show c.1308+1273_1308+1274insTATATTTATATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATGTACAAATATAAA AATATTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTA TAAATATAAAAATATTTATACATTTATGTATAAATATATAATTATGTATA TATTTATCTATAAATATATAAATATGTATATATTTATCTATAAATATATA AATATGTATATATTTATATATTTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(845): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACACGTATACGTATACACACATATACACGTATACGTATACG TATACACACATATACACGTATACGTATACGTATACACACATATACACGTA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACA CACATATATACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACATACACGTATACGTGTACACACACA TACGTATACGTGTACACACACATACGTATACGTGTACACACACATACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATATACGTATACGTGTACACACATATACA CGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	169	0.0059	852	c.48- others(869): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACGTAT ACGTATACACACATATACACGTATACGTATACACACATATACACGTATAC GTATACGTATACACACATATACACGTATACGTATACGTATACACACATAT ACACGTATATACGTATACGTGTACACACATATACACGTATATACGTATAC GTGTACACACATATATACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACATACACGTATACGTGTAC ACACACATACGTATACGTGTACACACACATACGTATACGTGTACACACAC ATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACAC ATATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(845): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTG TTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCAC CTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC TCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCC CACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCCACC TGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0206 a0001c0002t0020g0206	1	363	0.0028	852	c.-48 others(867): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT TCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCAC CCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCA CCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCT GTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAC TCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCC CCCCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAA AAATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGT GGCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGC TATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAA TGATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCT CACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCT GAGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTC TACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAA AAAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	336	0.0030	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAG GCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCC AAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATA TTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTT GACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTC CACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTT CTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAA AAAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	336	0.0030	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	336	0.0030	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTT TAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTT GGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAG GGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGA TCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02965.hp1 others(1): Show HG02258.hp1 HG02818.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 others(1): Show a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216	4	336	0.0119	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTT TAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTC GGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAG GGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(845): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	852	c.36 others(863): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(845): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACC ACCAACCAACATCACCATCACCACCACCACCATCACCACCAACCAACATC ACCATCACCACCACCATCACCACCAACCGACATCACCACCACTACCACCA TCACCAGCATCATCACCACCATCACCACCACCACGACCATCACCACCAAC CAACATCACCATCACCACCACCATCACCACCAACCATCACCATCACCACC ACCATCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCA TCACCACCATCACCACCACCACCACCATCACCAACATCACCACCACCATT ACCATCACCACCACCACCACCACCACCACCATCATCACCATCACCATCAT TACCACCATGACCATCACCAACACCACTACCACCATCACTACCACCATCA CCATCACCAACACCACCACCATCACCACCATCACCATCACTGCCACCACC ATCATCACTATCACCATCACCACCATCACACCATTACCATTATCATCACC ACC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	242	0.0041	852	c.276 others(867): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGCAGTGATGGTGATGGTGGT GATGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGG TGATGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTCGTGGTGGTGGT GATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGATGTCGGTTG GTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGG TGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTT GGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGT GGTGGTGATGGTGATGTTGGGTGGTGGTGATGGTGGTGGTGATGGTGATG TTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATG GTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGA TGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGT GATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CDH4_chr20_61247261_61945617	61943484	C C	CCTCTCAC others(845): Show CCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCCCTCTCACCG ACGACGAGGAGCACTGCGACCGCTAGCACCGTGGCCGCCTCGCGACGGCG CCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	106	0.0094	852	c.65 others(863): Show c.6541_*6542insCTCTCACCGACGACGAGGAGCACTGCGACCGTCG GCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCT GCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCT GCACCCCTCTCACCGACGACGAGGAGCACTGCGACCGCTAGCACCGTGGC CGCCTCGCGACGGCGCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACCGTC TGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGTA TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGTA TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTA TGCACCGTGGCCGCCCCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2868		chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(845): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	448	0.0022	852	c.51+ others(867): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTAGTATACATACTACATGATATACATAGTAGTATACATACTACATGATA TACATAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATA CATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(845): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGG AAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAG GGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAGGGAAGA ATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAG GGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGG AGGTAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGGA GAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGTAAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGG AAGAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAAT GGAGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGG AGGGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAAT GGAAGAATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGG AAGAATGCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAA GAGTGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGG AAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02615.hp2 HG02922.hp1 others(4): Show HG01123.hp1 HG02615.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2 HG06807.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0015 a0017	a0001c0004 a0001c0068 a0002c0054 others(4): Show a0001c0004 a0001c0068 a0002c0054 a0002c0060 a0008c0008 a0015c0062 a0017c0106	a0001c0004t0063 a0001c0068t0015 a0002c0054t0079 others(4): Show a0001c0004t0063 a0001c0068t0015 a0002c0054t0079 a0002c0060t0006 a0008c0008t0082 a0015c0062t0056 a0017c0106t0012	a0001c0004t0063g0095 a0001c0068t0015g0049 a0002c0054t0079g0096 others(4): Show a0001c0004t0063g0095 a0001c0068t0015g0049 a0002c0054t0079g0096 a0002c0060t0006g0094 a0008c0008t0082g0126 a0015c0062t0056g0062 a0017c0106t0012g0042	7	126	0.0556	852	c.415 others(873): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTCCCCTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTC CCTCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCA TTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTC CATTCTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCT TCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTC CCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(845): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGAT GTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAG ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18967.hp1 NA18985.hp1 HG00438.hp2 NA18967.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0010g0008 a0001c0001t0010g0045 a0001c0001t0001g0002 a0001c0001t0010g0008 a0001c0001t0010g0045	3	419	0.0072	852	c.-51 others(863): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGT AGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACC ACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAT TTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCAC CGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(845): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACATATGC GCGTGTATATGTGTGTATACACATATGCGTGTGTATATGTGTGTATATAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATATATGAGTGTATATGTGTGTATATACATATATAT GAGTGTATATATGTGTATATATACATATATATGCGTGTATATATACGTAT ATATGCATGTATATATGTGTATACATACATATATGCATGTATATATGTGT ATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0139 a0002c0005t0006g0139	1	148	0.0068	852	c.183 others(871): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTGTATACACACATATACACGCGCATATGTGTATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATA CACATATATACACGCATATACACACATATATGTATGTATACACACATATA CACACATATATGTATATATACACACATATATGTATATATACACATATATA CACACATATATGTATGTATACACATATATACACACATATATGTATGTATA CACATATATACACACATATATGTATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89635050	C C	CCCTTTCC others(845): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTC CTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp1 HG02083.hp2 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0025 a0002c0002t0001g0026	2	250	0.0080	852	c.105 others(867): Show c.105-858_105-857insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCCTTC others(845): Show TCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCTTCCTTCCCTTTCCCTCCTTCTCCTTTCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTCTTCT TTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	250	0.0040	852	c.105 others(867): Show c.105-737_105-736insCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCTTCCTTCCCTTTCCCTCCT TCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCT TTCCCCTCCTTCTTCTTTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGT others(845): Show GGTGTGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGATG GAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGGG TGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGAGG CTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGG GGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGG AGGCTGGTGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGC GGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGGGTG GAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG GTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAG GCTGGTGGCAGCGGTGTGGGCGGAGGCTGGGGTAGGGGAGGCTGGCGGCA GCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAAGGCTGGTGGACAGCGG TGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGG TGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGAGG CTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	418	0.0024	852	c.119 others(871): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGTCCACCAGCCTTCCCCT CACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCA GCCTCCGCCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCC ACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCACTGCCACCAGCC TCCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCT CCACCCACACCGCTGCTGCACCAGCCTCCCCCACCCCAGCCTCCCCTCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACT GCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCTCACCCCAGCCTCCACC CACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCC TCCTCTTACCCCAGCCTCCACCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FHIT_chr3_59742277_61256452	60861215	T T	TATATGAT others(845): Show TATATGATATATATGATATATATGATATATATGATATATATGATATATAT GATATATATCATATATATGATATATATGATATATATCATATATATGATAT CATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATCATATATGATATATATGATATATATGATATATC ATATCATATCATATATGATATATATGATATATATGATATATCATATCATA TCATATATGATATATATGATATATATGATATATCATATCTATCATATATG ATATATATGATATATATGATATATCATATCATATCATATATGATATATAT GATATGATATGATATATCATATCATATCATATATGATATATATGATATGA TATGATATATCATATCATATCATATATGATATATATGATATGATATGATA TATCATATCATATCATATATGATATATATGATATGATATGATATATCATA TCATATCATATATGATATATATGATATGATATGATATATCATATCATATC ATATATGATATATATGATATATATGATATATCATATCATATCATATATGA TATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATAATATATGATATATATGATATATATGATATATC ATATCATATATGATATATATGATATATATGATATATCATATCATATATGA TAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	46	0.0217	852	c.-11 others(873): Show c.-110-39205_-110-39204insGTATCATATATGATATGATATATC ATATATATCATATATATCATATATGATATGATATATCATATATATCATAT ATATCATATATTATATGATATGATATATCATATATATCATATATATCATA TATGATATGATATGATATATCATATATATCATATATATCATATATGATAT GATATGATATATCATATATATCATATATATCATATATGATATGATATGAT ATATCATATATATCATATATATCATATATGATATGATATGATATATCATA TCATATCATATATATCATATATGATATGATATGATATATCATATCATATC ATATATATCATATATGATATGATATGATATATCATATCATATCATATATA TCATATATGATATGATATGATATATCATATCATATCATATATATCATATA TGATATGATATGATATATCATATCATATCATATATATCATATATGATATG ATATGATATATCATATATATCATATATATCATATATGATAGATATGATAT ATCATATATATCATATATATCATATATGATATGATATGATATATCATATA TATCATATATATCATATATGATATGATATGATATATCATATATATCATAT ATATCATATATGATATGATATGATATATCATATATATCATATATATCATA TATGATATGATATGATATATCATATATATCATATATATCATATATGATAT GATATGATATATCATATATATCATATATGATATCATATATATGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATCATA TATATCATATATATCATATATATCATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435881	A A	AAGGGACG others(845): Show AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGG AGGGAGGAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGG AGGAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0043 a0001c0001t0045g0043	1	96	0.0104	852	c.-16 others(873): Show c.-168+57544_-168+57545insCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTT CTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTC CCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTTC CTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTCCTTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTTCCTCC CTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132241342	G G	GCCACACC others(845): Show GCCACACCCCCTTCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCC TTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCAT TACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	183	0.0055	852	c.107 others(871): Show c.1077+6567_1077+6568insTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG TGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGGATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCC CCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGG TGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGT GTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCATGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATT GGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGAAGGGGGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(845): Show TCTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCAT CACCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCACCA CCACTACCACCTCTACCACCACCACCACCACCACCACTACCACCTCTACC ACCTCTACCACCACCACCACCATCACCTCTACCACCACCATCACCACCAC CATCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCACCT CTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATC ACCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCACCTG TACCACCACTGCTACCATCACCACCACTACCACCACCATCACCACCACTA CCACTACCTCTACCTCCACTGCTACCATCACCACCACCACCACCACCTCT ACCACCACCATCACCACCACCACCACCACTACCACCTCTACCACCACCAT CACCACCACCACTACCACCACCACCACCACCACCACCACCACCACTACCA CCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACC ATCATCACCACCACCACTACCACCTCTACCACCTCTACCACCACGACCAC CACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCT CTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCATC ACCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCAC CATCACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCACCA TCG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0120 a0001c0001t0018g0120	1	134	0.0075	852	c.520 others(873): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGT GATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTG GTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGA GGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGT GATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGG TAGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAGTGGTGGTGGTG GTGATGGTAGCAGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGT GGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAG AGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTCGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(845): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCATCATCACCGCCACCACCACCACCACC ACCATCATCACCGCCGCCACCACCACCACCATCATCACCACCATCACCAT CACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCA CCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCACCGCC GCCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCAC CACCACCATCATCACCGCCACCACCACCACCACCACCATCATCACCGCCG CCACCACCACCACCATCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	314	0.0032	852	c.-25 others(869): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCACCATCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCAT CACCATCACCACCACCATCACCACCACCATCATCACCGCCACCACCACCA CCACCACCATCATCACCGCCGCCACCACCACCACCATCATCACCACCATC ACCATCACCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCA CCGCCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ATCACCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCAC CGCCGCCACCACCACCACCATCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399451	C C	CCATCACC others(845): Show CCATCACCATCATCACCACCATCACCACCGCCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCATCA CCACCACCACCACCATCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCAT CACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCACCATCACCACCATCACCACCGCCACCACCACCA CCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCATCATCACCACCACCACCACCATCGCCGCCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	314	0.0032	852	c.-25 others(869): Show c.-25+2533_-25+2534insTCACCATCATCACCACCATCACCACCGC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCATCACCACCATCACCACCACCATCACCACCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCACCACCATCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCATCACCACCACCACCACCATCACCATCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCA CCATCACCACCACCATCATCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCATCACCACCATC ACCACCGCCACCACCACCACCATCACCACCGCCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCGCCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCATCACCACCACCACCACCATCG CCGCCACCACCACCACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRAS_chr11_527242_540576	530718	G G	GAGAAGGG others(845): Show GAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGG GGAGTGTGGCGTCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAG TGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAG GGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGA CAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGG AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGGGTGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02451.hp1 others(7): Show HG01074.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0028 a0001c0002t0001g0003 a0001c0002t0001g0028	10	397	0.0252	852	c.18 others(863): Show c.1809_*1810insGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACACCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCAC ACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTGGCCC TTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACAC TGGCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACG CCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT GTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGA CGCCACACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1523		chr11	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(845): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACC ACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTC CTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTA CCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACA ACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTC TTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCA TCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTC CTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCA CCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACT ACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTAC CACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCA TCACCTCCTCCACCACTACCACCATCTCCTCCACCACCACCACCACCACC ACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	274	0.0037	852	c.804 others(869): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG CTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGT GGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGG TGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTG GTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGG GGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(845): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0022 a0001c0001t0019g0022	1	376	0.0027	852	c.666 others(869): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(845): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGGTGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	376	0.0027	852	c.666 others(869): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CACCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(845): Show TCTCTCTCTCCCCCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTC TCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCTCCCCCCTCTCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCCGCCTCCCCCCTCTC CCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCATCCCCCTCCC CCCTCCCCCTCCCCCTCTCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCGT CCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTT CCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCT TCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0042	1	158	0.0063	852	c.11 others(873): Show c.1103+4125_*1103+4126insCCCCTCCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCC TCCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCC TCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCAT CCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCAT CCGCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTC TCCCCATCCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCCTCCCCTCC CCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTC TCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTC TCTCTCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284526	T T	TAATAATA others(845): Show TAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCG ATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGAT CATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGT CTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAG TCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGG CGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAA AAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATAC AAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAG CCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCC TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	852	c.-30 others(863): Show c.-3043_-3042insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2905		chr19	TogoVar
JUND_chr19_18274694_18286622	18284529	T T	TAATAATA others(845): Show TAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCG TGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAGCGG GTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAA CCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGC CTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCC GGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCT GGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATAC AAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAG CCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCC TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18991.hp2 NA18953.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	2	408	0.0049	852	c.-30 others(863): Show c.-3046_-3045insTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACG GATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTC ACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCC CAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGA ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATC TCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTAT AGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATT ATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2908		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18990.hp2 NA18983.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0302 a0001c0001t0001g0304	2	312	0.0064	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	312	0.0032	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01258.hp2 others(6): Show HG00099.hp2 HG00673.hp2 HG01258.hp2 NA18940.hp1 NA18952.hp1 NA18959.hp1 NA18971.hp2 NA18994.hp1 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0212 a0001c0001t0001g0274 a0001c0001t0001g0307 a0003c0006t0001g0004 a0003c0006t0001g0041 a0003c0006t0001g0071 a0003c0006t0001g0201	9	312	0.0289	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(845): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	852	c.-27 others(863): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar

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Search Results (Total: 7053 hits)