Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(673): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	59	0.0169	680	c.155 others(699): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGG ACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCCACC TCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(673): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGG ACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATATGGACCC CCCCAACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCACCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	177	0.0056	680	c.471 others(695): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTG CCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCC GCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACC TGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACA GACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCA GATATGGACCCCCCCAACCCACTGCCCAGATACGGACCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(673): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	680	c.-26 others(691): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(673): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATACATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	680	c.-26 others(691): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATGTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(673): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCA CCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCAT CTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTC CCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCT CCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCA GCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTC CCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGC ATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCT CCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	248	0.0040	680	c.35 others(691): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCT CCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCTCCACCTC CCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTC GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTC CACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCC CTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCAC CTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
POLR2C_chr16_57457679_57477009	57458501	G G	GCCAAAGT others(673): Show GCCAAAGTGGGATCTAGGTCATCTTCATTCAGGGACCAGCATTCTAGCCA CAAACCAGTTATTATTTCTTCCAGCTTGTGGTGACACCAGGTGTCAGAGA TCCTTTAGCATTGGCGAAAGCTAATTGGGCTGCCATTTTTATTATCATTT CCCTCTCTCCTAAGATGTAGATTCTGCAGCAAAATTCCTCTTTTGAAAAA AAGAAATGCCATGGAGGCACCCATTGCTTTAAAAAGAAATTCCCTTCCCC AGCCCATCTTGGCCTGCTTTGCTAAGTGAATCAATAAGGCTCTTTAAACA GCACCAGGAAAGAATCCGACTTGTTAATGCTATCATATTTCTGGTAGGAA AATTTTAAAAAAATACACCTTCATAAAAGAAAAATGTGATGATACTTTGT GGAATCCTGGATGAGGAGGCACAGAAATACTCCCACCATAGTTATAACAA AGTGTTTTAATAAACTTTCCTCCATGTGGGAATATAATGCCAACAGAGAC GGTAGGAAAATGAAATTAGAAAGCAAAGAAATTAAAGGAATAAAACACCA AGCAGCTGAGCTGGTCCTCTGAAGAGTAGTTTGCTAGAACAATCAGAAGT TGCTGAGGGGACTTGAACTCTCAGCTTTGCCCAGGTATTGTAATCTGTCC ATGAGCCTCTCTCAGCCCTCACTTTATTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	680	c.-42 others(691): Show c.-4224_-4223insCCAAAGTGGGATCTAGGTCATCTTCATTCAGGGA CCAGCATTCTAGCCACAAACCAGTTATTATTTCTTCCAGCTTGTGGTGAC ACCAGGTGTCAGAGATCCTTTAGCATTGGCGAAAGCTAATTGGGCTGCCA TTTTTATTATCATTTCCCTCTCTCCTAAGATGTAGATTCTGCAGCAAAAT TCCTCTTTTGAAAAAAAGAAATGCCATGGAGGCACCCATTGCTTTAAAAA GAAATTCCCTTCCCCAGCCCATCTTGGCCTGCTTTGCTAAGTGAATCAAT AAGGCTCTTTAAACAGCACCAGGAAAGAATCCGACTTGTTAATGCTATCA TATTTCTGGTAGGAAAATTTTAAAAAAATACACCTTCATAAAAGAAAAAT GTGATGATACTTTGTGGAATCCTGGATGAGGAGGCACAGAAATACTCCCA CCATAGTTATAACAAAGTGTTTTAATAAACTTTCCTCCATGTGGGAATAT AATGCCAACAGAGACGGTAGGAAAATGAAATTAGAAAGCAAAGAAATTAA AGGAATAAAACACCAAGCAGCTGAGCTGGTCCTCTGAAGAGTAGTTTGCT AGAACAATCAGAAGTTGCTGAGGGGACTTGAACTCTCAGCTTTGCCCAGG TATTGTAATCTGTCCATGAGCCTCTCTCAGCCCTCACTTTATTGAT	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		4177		chr16	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(673): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCT TACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACG CATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCT TACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTA CACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACA CGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTA CACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACGCG GCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACG CGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02738.hp2 HG02698.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0075 a0001c0001t0001 a0002c0003t0075	a0001c0001t0001g0095 a0002c0003t0075g0084 a0001c0001t0001g0095 a0002c0003t0075g0084	2	171	0.0117	680	c.38- others(695): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACAAGCAG TCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTC TTACACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGG TCTTACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTC TTACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAG TCTTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGG TCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTC TTACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGG AGTCTTACACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACAC ACGCAGTCTTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTAC ACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(673): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACAGTCTTACACA CGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCGGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGT CTTACACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACACGCG GCCTTACACACGCGGTCTTACACGCGGTCTTACACACGCAGTCTTACACG CGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0199 a0001c0002t0052g0199	1	170	0.0059	680	c.38- others(695): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACACGCGGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACAC ACGCAGTCTTACACGCGGCCTTACACACGCGGTCTTACACGCGGTCTTAC ACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(673): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACAGTCTTACACA CGCAGTCTTACACACGCAGTCTTACACACGCGGTCTTACACACGCGGTCT TACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACG CATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCT TACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTA CACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACA CGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTA CACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACGCG GCCTTACACACGCGGTCTTACACGCGGTCTTACACACGCAGTCTTACACG CGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0186 a0001c0002t0005g0186	1	170	0.0059	680	c.38- others(695): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCGG TCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTC TTACACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGG TCTTACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTC TTACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAG TCTTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGG TCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTC TTACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGG AGTCTTACACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACAC ACGCAGTCTTACACGCGGCCTTACACACGCGGTCTTACACGCGGTCTTAC ACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(673): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAG GCGCCCCTCACCTCCTGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0102 a0001c0001t0019g0102	1	7	0.1429	680	c.822 others(697): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCC GGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTC CTGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGTGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(673): Show AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	132	0.0076	680	c.126 others(699): Show c.1265+3418_1265+3419insAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAG CCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(673): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0151 a0001c0002t0002g0146 a0001c0002t0002g0151	2	133	0.0150	680	c.126 others(699): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(673): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0004 a0001c0006t0001g0004	1	187	0.0053	680	c.-50 others(691): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RASA3_chr13_113972783_114137623	114080987	T T	TCGGCAGA others(673): Show TCGGCAGAGGGCCGTACACCTAGAACACCAAGAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCA AGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0004g0001 a0002c0004t0004g0029	2	56	0.0357	680	c.56- others(695): Show c.56-7151_56-7150insTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCG TGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTA TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG TGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCG TGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTA TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGTACGGCCCTCTGCCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348440	A A	AAAAAAAG others(673): Show AAAAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAAGGAAAGGAAAGGAAAGGAAAAGGAAAGAAAGAAAGGAAAGGAAAGGA AAGGAAAGGAAAAGGAAAGAAAAGGAAAGGAAAGGAAGGAAAAGGAAAGG AAAAGGAAAGGAAAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAAGG AAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGA AAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGA AAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAA AAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAA AGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGA AAAGGAAAGGAAAAGGAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAA AAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAAAGGAAAAGGAA AGGAAAAGGAAAGGAAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	270	0.0037	680	c.132 others(697): Show c.132+2907_132+2908insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTTCCTTTCCTTTT CCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTC CTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTCCTTTTCCTTTCC TTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTT CCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTC CTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTC CTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCC TTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTTCC TTTCCTTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTTTCCTTTCCT TTTCCTTTCCTTTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTTTCCTTTC CTTTCCTTTCCTTTCCTTTCTTTCTTTCCTTTTCCTTTCCTTTCCTTTCC TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AAGCTGAG others(673): Show AAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0225 a0001c0002t0003g0225	1	105	0.0095	680	c.157 others(699): Show c.1572+3390_1572+3391insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGA GCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(673): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATCTATTCCATATAT ATATCTATTCCATATATATATCTATTCCATATATATATCTATTCCATATA TATATCTATTCCATATATATATCTATTCCAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	233	0.0043	680	c.115 others(697): Show c.115-2603_115-2602insATGGAATAGATATATATATGGAATAGAT ATATATATGGAATAGATATATATATGGAATAGATATATATATGGAATAGA TATATATATGGAATAGATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATGGAATATATATATATATGGAATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT AT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(673): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATTCCATATATATAT ATTCCATATATATATTCCATATATATATTCCATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATCTATTCCATATAT ATATATATTCCATATATATATCTATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATCTATTCCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	233	0.0043	680	c.115 others(697): Show c.115-2603_115-2602insATGGAATAGATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATAGATATATATATGGAATATA TATATATATGGAATAGATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATGGAATATATATATATATGGAATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT AT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(673): Show TGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGG CCAGCCACCCTGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGG AGATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	38	0.0263	680	c.280 others(699): Show c.280-44699_280-44698insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACAGGGTG GCTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGGCTGACC CCCC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(673): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	121	0.0083	680	c.-32 others(697): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(673): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19068.hp1 HG04228.hp1 NA19068.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0001 a0003c0002t0010 a0002c0003t0001 a0003c0002t0010	a0002c0003t0001g0085 a0003c0002t0010g0215 a0002c0003t0001g0085 a0003c0002t0010g0215	2	169	0.0118	680	c.323 others(699): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAC AGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMYD3_chr1_245744347_246512279	246072180	T T	TTAGTTCT others(673): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCACTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTCGCTGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCC ACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCACTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGA TTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGG GGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTA GTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTT CCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTC TTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCT CACTGTCGCTGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCAC TGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGC TTTCCACTGTGCTCACTGTGGATGCATCGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	133	0.0075	680	c.532 others(701): Show c.532-142244_532-142243insCACGATGCATCCACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGT GAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGC GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG ATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAA TCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACACGATGCATCCACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGCGA CAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAA GCATCCACAGTGAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAACTA CACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCA GAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPG7_chr16_89503403_89562766	89535939	G G	GTGTGGCC others(673): Show GTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCT GTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGC CTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGC CTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGT GTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCT CTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCT TCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGT GCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGT GGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTGGTGCTGTGTGG CCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCT GGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAG TGTGGCCTCTCTGGTGCTGTGTGGCCTTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02129.hp1 HG03688.hp1 HG00408.hp2 HG02129.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0214	3	180	0.0167	680	c.132 others(699): Show c.1324+3333_1324+3334insGTGTGGCCGCTCTGGTGCTGTGTGGC CTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTG GTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACT GTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCG CTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCT TCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGT GCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGT GGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGT GGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCT CTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTGGTGCTGTGTGGCCTTCAG TGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTG TGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCC TCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCC TTCA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(673): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATAC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCG GATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0002 a0013c0025t0002	a0013c0025t0002g0268 a0013c0025t0002g0268	1	296	0.0034	680	c.646 others(697): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCT TCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCC CTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(673): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATAC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCG GATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	296	0.0034	680	c.646 others(697): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCT TCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCC CTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(673): Show ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTTTATATTATATAACT ATATATTATATATAATATATATATTTTATATTATATAACTATATATAATA TATAATATATATATTTTATATTATATAACTATATATTATATATAATATAT AACTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	219	0.0046	680	c.73 others(691): Show c.7357_*7358insTATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT TTATATTATATAACTATATATTATATATAATATATATATTTTATATTATA TAACTATATATAATATATAATATATATATTTTATATTATATAACTATATA TTATATATAATATATAACTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(673): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCACCTCCCAGCTCCAACCT TCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTC CTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCC ACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCA CCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCAC CTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCACCTCCCAGCTCCAGCTC CCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCC CGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCC TCCTCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTC CTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACC TCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTT CCCACCTCCTTCCTCGCAGTTCCCACCTCCAGCTCCCACCTTCCAGCTCC AGGCTCCCAGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	104	0.0096	680	c.179 others(699): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC ACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCG GCTCCTGGCTCCCACCTCCTCCTCCCACCTCCCACCTCCCAGCTCCCACC TCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCATCT CCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTC CCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCC ACCTCCCAGCTCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCAC CTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACC TTCCAGCTCCCGCCTCCCTCCTCCAGTTCCCACCTCCCACCTCCCAGCTC CCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTC CACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTC TCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCAG CTCCCACCTTCCAGCTCCAGGCTCCCAGCTCCCGCCTCCCGCCTCCCAGC TCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(673): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC CACCCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCC CAGCTCCCTCCTCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCA CCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCCAGCTCCCG CCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAA CTCCCTCCTCCCACCCCCCACCTCCCTCCTCCAGTTTCCACCTCCCCGTT CCCACCTCCCACCTCCCTCCTCCCACCTCTCTCCTCCCACCTTCCAGTTC CCACCTCCTTCCTCCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTC CCAGCTCCAGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	104	0.0096	680	c.179 others(699): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCCACCCTCCCAGCTCCCGCCTCCCTCATCCTAG TTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCACCTCCCACCTCCCTCCT TTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTC CCACCTTCCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTC CCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCC AGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCTCT CCTCCCACCTTCCAGTTCCCACCTCCTTCCTCCGCAGTTCCCACCTCCCA GCTCCCACCTTCCAGCTCCCAGCTCCAGCTCCCGCCTCCCGCCTCCCAGC TCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(673): Show GTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	158	0.0063	680	c.924 others(697): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGA GAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132D_chr12_129066726_129909025	129539007	C C	CGTTGGCT others(673): Show CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGATCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGTGAGTCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCC TGGCTATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGTGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGCTAC TAGTGACCCCTGGTGATAGGTCAGAAGGAGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG01975.hp2 others(2): Show HG01167.hp1 HG01891.hp1 HG01975.hp2 HG02647.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0007t0004	a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0002g0008 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0002g0008 a0001c0002t0004g0052 a0001c0007t0004g0075	5	89	0.0562	680	c.969 others(697): Show c.969-7803_969-7802insACTCCTTCTGACCTATCACCAGGGGTCA CTAGTAGCCAACGCTCCTTCTGACCTATTGCCAGGGGTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATAG CCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCA CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGACTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGATCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA AC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM242_chr6_157284025_157328519	157310962	G G	GGCCTAAT others(673): Show GGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAGTGT CCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGATCAC CTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCACAGT GTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCTC ACCTAGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATCATG GTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTGCAC TCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCTTCATCA TAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACAGTGTCCCAGTATGC GCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGCTCACCTAGCCTGAT CATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCATACTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCAACGGGCCTA ATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCACCATAGTGGCCCAGT ATCCGATCACCTACATTCATCATATTGTCCCAGTGTGCACTCACCTGGCC TCATCATAGTGCCCCAGTGTGTGCTCATCTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0312 a0001c0001t0003g0313	2	328	0.0061	680	c.327 others(697): Show c.327+7819_327+7820insTAGATGAGCACACACTGGGGCACTATGA TGAGGCCAGGTGAGTGCACACTGGGACAATATGATGAATGTAGGTGATCG GATACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTAT GATTAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAG TGCACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACT ATGATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTT AGCGCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACC CTATGATGAAGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGG TGAGTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGA CACCATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCTA GGTGAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGG GACACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATC TAGGTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACT GGGACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAG GC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310962	G G	GGCCTAAT others(673): Show GGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAGTGT CCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGATCAC CTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCACAGT GTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCTC ACCTGGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATCATG GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCAC TCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCA TAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACAGTGTCCCAGTATGC GCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGCTCACCTAGCCTGAT CATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCATACTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCAACGGGCCTA ATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCACCATAGTGGCCCAGT ATCCGATCACCTACATTCATCATATTGTCCCAGTGTGCACTCACCTGGCC TCATCATAGTGCCCCAGTGTGTGCTCATCTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0100 a0001c0001t0006g0101	2	328	0.0061	680	c.327 others(697): Show c.327+7819_327+7820insTAGATGAGCACACACTGGGGCACTATGA TGAGGCCAGGTGAGTGCACACTGGGACAATATGATGAATGTAGGTGATCG GATACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTAT GATTAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAG TGCACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACT ATGATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTT AGCGCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACC CTATGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGG TGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACACTGGGA CACCATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCA GGTGAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGG GACACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATC TAGGTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACT GGGACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAG GC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311153	C C	CCTGGCCT others(673): Show CCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAG TGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGAT CACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCAC AGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCG CTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATC ATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTG CACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCA TCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACAGTGTCCCAGTA TGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGCTCACCTAGCCT GATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCATACTGTCCCAG TGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCAACGGGC CTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCACCATAGTGGCCC AGTATCCGATCACCTACATTCATCATATTGTCCCAGTGTGCACTCACCTG GCCTCATCATAGTGCCCCAGTGTGTGCTCAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	341	0.0029	680	c.327 others(697): Show c.327+7628_327+7629insATGAGCACACACTGGGGCACTATGATGA GGCCAGGTGAGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGAT ACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGAT TAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGC ACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATG ATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGC GCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTA TGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGA GTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACAC CATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGT GAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGAC ACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAG GTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGG ACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCC AG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311612	G G	GTCCCAGT others(673): Show GTCCCAGTGTGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGCGCACTC ACCTAGCCTCATCATAGTGTCCCAGGGTGCGCTCATCCAGCCTCATCATA GTGTCGCAGTGTGCACTCACCTAGACTCATCATAGTGCCGCAGTGTGCGC TCACCTGGCCTCAACATACTGTCCCAGTGTGCGGTCACCTAGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCTGGACTCATCATAGTACCGCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCGAGCATCAT CATAGGGCCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCACTAT GCCCTCACCGGGCCTCATGATAGTGTCCCAGTGTGCACTCACCTGGCCTG ATCATAGTGTCGCAGTGTGCATTCACCTAGCCTCATCATAGTGCCCCAGT GTGCACTCACCTAGGCTCAACATAGTGTCCCAGTGTGCGCTCACCTAGCC TCATCATAGTGTCACAGTGTGCCCTCAGCCGGCCTCATCATAGTGTCCCA GTGTGCGCTCACCCGGCCTCATAACAGTGCCCCAGTGTGCGCTCACCTGG CCTCGTCATAGTGTCCCACTGTGCATTCACCTGGCCTCATCATAGTGTCC CAGTGTGCATTCATCTGGCCTCATCATAGTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	336	0.0030	680	c.327 others(697): Show c.327+7169_327+7170insAACTATGATGAGGCCAGATGAATGCACA CTGGGACACTATGATGAGGCCAGGTGAATGCACAGTGGGACACTATGACG AGGCCAGGTGAGCGCACACTGGGGCACTGTTATGAGGCCGGGTGAGCGCA CACTGGGACACTATGATGAGGCCGGCTGAGGGCACACTGTGACACTATGA TGAGGCTAGGTGAGCGCACACTGGGACACTATGTTGAGCCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCTAGGTGAATGCACACTGCGACACTAT GATCAGGCCAGGTGAGTGCACACTGGGACACTATCATGAGGCCCGGTGAG GGCATAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCCCT ATGATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTG AGTGCACACTGCGGTACTATGATGAGTCCAGGTGAGCGCACACTGGGACA CTATGATGAGGCTAGGTGACCGCACACTGGGACAGTATGTTGAGGCCAGG TGAGCGCACACTGCGGCACTATGATGAGTCTAGGTGAGTGCACACTGCGA CACTATGATGAGGCTGGATGAGCGCACCCTGGGACACTATGATGAGGCTA GGTGAGTGCGCACTGGGACTCTATGATGAGGCTAGCTGAGTGCACACTGG GA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311715	C C	CCCCAGTG others(673): Show CCCCAGTGTGTGCTCAACTACCCTCATCATAGTGTCACAGTGTGCACTCA CCCGGCCTCATCATAGTGCCCAAGTGTGCACTTACCTAGCCTCATCATAG TGTCCCACTGTGCGCTCACCCGGCCTCATCATAGTGTAACAGTGTGCGCT CACCTGGCCTCATCTTAGTGCCCCACTGTGCACTCACCTAGCCTCATCAT AGTGCCTCAGTGTGCACTCACATAGCCTCATCATAGTGCCCCAGTATGAG CTCACCTAGCCTCATCATAGTGCCCCACTCTGCGCACACCTAGCCTCATC ATAGTGCCCCAGTGTGCGCTCACCTAGCCACATCATAGTGTCCCAGTGTG CACTCACCTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCCGGCCTCA TCATAGTGCCCCAGTGTGCGCTCACCTAGCTTCATCATAGTGTCATAGTG GGCGCTCAACCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCTAGCCT CATCATAATGCCCCAGTGTCCGCTCACCTAGCCTCATCATAGTGTCCCAG TGTGCGCTCACCCGGCCTCATCATAGTGCCCCACTGTGCGCTCACATGGC CTCATCATAATGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCA AGTGTGCGCTCACCTGACCTCATCACTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG06807.hp1 HG02572.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0179 a0001c0001t0003g0322 a0001c0001t0003g0323	3	174	0.0172	680	c.327 others(697): Show c.327+7066_327+7067insACACAGTGATGAGGTCAGGTGAGCGCAC ACTTGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACATTATGAT GAGGCCATGTGAGCGCACAGTGGGGCACTATGATGAGGCCGGGTGAGCGC ACACTGGGACACTATGATGAGGCTAGGTGAGCGGACACTGGGGCATTATG ATGAGGCTAGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGTTGAGC GCCCACTATGACACTATGATGAAGCTAGGTGAGCGCACACTGGGGCACTA TGATGAGGCCGGGTGAGCGCACTCTGGGACACTATGATGAGGCCAGGTGA GTGCACACTGGGACACTATGATGTGGCTAGGTGAGCGCACACTGGGGCAC TATGATGAGGCTAGGTGTGCGCAGAGTGGGGCACTATGATGAGGCTAGGT GAGCTCATACTGGGGCACTATGATGAGGCTATGTGAGTGCACACTGAGGC ACTATGATGAGGCTAGGTGAGTGCACAGTGGGGCACTAAGATGAGGCCAG GTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGGG ACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGCC GGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACTG GG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311715	C C	CCCCAGTG others(673): Show CCCCAGTGTGTGCTCAACTACCCTCATCATAGTGTCACAGTGTGCACTCA CCCGGCCTCATCATAGTGCCCAAGTGTGCACTTACCTAGCCTCATCATAG TGTCCCACTGTGCGCTCACCCGGCCTCATCATAGTGTAACAGTGTGCGCT CACCTGGCCTCATCTTAGTGCCCCACTGTGCACTCACCTAGCCTCATCAT AGTGCCTCAGTGTGCACTCACATAGCCTCATCATAGTGCCCCAGTATGAG CTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCACACCTAGCCTCATC ATAGTGCCCCAGTGGGCGCTCACCTAGCCACATCATAGTGTCCCAGTGTG CACTCACCTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCCGGCCTCA TCATAGTGCCCCAGTGTGCGCTCACCTAGCTTCATCATAGTGTCATAGTG GGCGCTCAACCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCTAGCCT CATCATAATGCCCCAGTGTCCGCTCACCTAGCCTCATCATAGTGTCCCAG TGTGCGCTCACCCGGCCTCATCATAGTGCCCCACTGTGCGCTCACATGGC CTCATCATAATGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCA AGTGTGCGCTCACCTGACCTCATCACTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	172	0.0058	680	c.327 others(697): Show c.327+7066_327+7067insACACAGTGATGAGGTCAGGTGAGCGCAC ACTTGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACATTATGAT GAGGCCATGTGAGCGCACAGTGGGGCACTATGATGAGGCCGGGTGAGCGC ACACTGGGACACTATGATGAGGCTAGGTGAGCGGACACTGGGGCATTATG ATGAGGCTAGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGTTGAGC GCCCACTATGACACTATGATGAAGCTAGGTGAGCGCACACTGGGGCACTA TGATGAGGCCGGGTGAGCGCACTCTGGGACACTATGATGAGGCCAGGTGA GTGCACACTGGGACACTATGATGTGGCTAGGTGAGCGCCCACTGGGGCAC TATGATGAGGCTAGGTGTGCGCAGACTGGGGCACTATGATGAGGCTAGGT GAGCTCATACTGGGGCACTATGATGAGGCTATGTGAGTGCACACTGAGGC ACTATGATGAGGCTAGGTGAGTGCACAGTGGGGCACTAAGATGAGGCCAG GTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGGG ACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGCC GGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACTG GG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313167	A A	AGTGCCCC others(673): Show AGTGCCCCAGTGTGCACTCACCTAGCCTCAACATAGTGCCCCAGCGTGCG TTGACCTGGCCTCATTATAGTGCCCCAGTGTGCACTCACCAAGCCTCATC ATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGGATCCCAGTGTC TGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCA TCATAGTGCCCCAGTGAGCGCGCACCCGGCCTCATCATAGTGCCGCAGTG TGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTCACCCGGCCT CATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATACTGTCCCAA TGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAATCACCAGGC CTCGTCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATAGTGCGCC AGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGCGCTCATCTA CCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATACTGTC CCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACC CGGTCTCATGACAGTGTCCCAGTGTGCGCTGACCTAGCCTCATCATAGTG TCCCAGTGTGCACTCACCTAGCCTCATCATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0271 a0001c0001t0018g0271	1	341	0.0029	680	c.327 others(697): Show c.327+5614_327+5615insCATGATGAGGCTAGGTGAGTGCACACTG GGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTGTCATGAGA CCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACAC TGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGA GGGTAGATGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAGCACAC ACTGGCGCACTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGAC GAGGCCTGGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTGAGTGC ACATTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTACTATG ATGAGGCCGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACGTGAGC GCACACTGCGGCACTATGATGAGGCCGGGTGCGCGCTCACTGGGGCACTA TGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGA GCAGACACTGGGATCCTATGATGAGGCCAGGTGAGTGCACACTGGGGCAC TATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATAATGAGGCCAGGT CAACGCACGCTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGGGGC AC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(673): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCTCCCCTCCTCGGGACACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCC CCACGGGACACATACCCCCTCCCTCCTCGGGGCACATCCCCCCCTCCCTC CAGGGGACACATCCCCCCTCCCCCCACGGGACCAACCCATCCCCCCACCC CCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTC CAGGGGACACATCCCCCCTCCCCCCACGGGACAACATCCCCCCTCCCCCC AGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTC GGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0160 a0002c0003t0015g0160	1	126	0.0079	680	c.54 others(691): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCTCCCCTCCTCGGG ACACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGG ACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCTCGGGGCAC ATCCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACCAA CCCATCCCCCCACCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAAC ATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCC TCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(673): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0109 a0015c0016t0001g0109	1	10	0.1000	680	c.-25 others(699): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCT CCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCC TCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCT CCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(673): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACACGCACGCCACACACACACGCACGCCACACACACACGCAC GCCACACACACACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATG CCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCATGCCACACACATGCACGCCACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACACACAGGCACACCACACACAGGCACGCCACACACACAGGCACGCCAC ACACATGCACGCCACACACGCACGCCACACG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	230	0.0043	680	c.961 others(695): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTGTG GCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTG GCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTG TGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGTGG CGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGC GTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCC TGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGTGTGG CGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTGGCAT GCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGGC GTGCCTGTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507246	C C	CATACATA others(673): Show CATACATAAATGTATATACGTATATATACATGTATTATACATACATAAAT GTATATACGTATATATACATGTATTATACATACATAAATGTATATACGTA TATATACATGTATTATACATACGTAAATGTATATACGTATATATACATGT ATTATACATACGTAAATGTATATACGTATATATACATGTATTATACATAC GTAAATGTATATACGTATATATACATGTATTATACATACGTAAATGTATA TACGTATATATACATGTATTATACATACGTAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATACGTATATATACATGTATTATACATACGTAAATGTATATACGT ATATATACATGTATTATACATACGTAAATGTATATACGTATATATACATG TATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATATG TATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0208 a0001c0001t0041g0208	1	378	0.0026	680	c.-23 others(697): Show c.-23+2801_-23+2802insAATACATTTACGTATGTATAATGTATAT ATACATATATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTATA ATACATGTATATATACGTATATACATTTACGTATGTATAATACATGTATA TATACGTATATACATTTACGTATGTATAATACATGTATATATACGTATAT ACATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGTA TGTATAATACATGTATATATACGTATATACATTTACGTATGTATAATACA TGTATATATACGTATATACATTTACGTATGTATAATACATGTATATATAC GTATATACATTTACGTATGTATAATACATGTATATATACGTATATACATT TACGTATGTATAATACATGTATATATACGTATATACATTTACGTATGTAT AATACATGTATATATACGTATATACATTTACGTATGTATAATACATGTAT ATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATA TACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGT AT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(673): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATAATATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	680	c.29 others(691): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATAATATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(673): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATTATATATA TATAAAAATATTTATATGATACTTATAATATATTAATATATTTATATTAA TATATATAATAATAAAAAAAAAATTATATATTTTTTTTTAATTTAAATAT ATAATTTTTATATATAATATATAAATTATATATAATATTTATATGATACT TATAATATATTAATATATTATATTAATATATATAATATAATTATATATAT ATATATAAAATATAAATTAATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATAATATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	680	c.29 others(691): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATTATATATATATAAAAATATTTATATGATACTTATAATATATTA ATATATTTATATTAATATATATAATAATAAAAAAAAAATTATATATTTTT TTTTAATTTAAATATATAATTTTTATATATAATATATAAATTATATATAA TATTTATATGATACTTATAATATATTAATATATTATATTAATATATATAA TATAATTATATATATATATATAAAATATAAATTAATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATAATATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(673): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0044 a0002c0003t0044	a0002c0003t0044g0101 a0002c0003t0044g0101	1	98	0.0102	680	c.41- others(697): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(673): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATAACATGATGATATGATACTATATCATC ATATAACATGATGATATGATACTATATCATCATATAACATGATGATATGA TACTATATCATCATATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01074.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0021 a0001c0001t0002 a0001c0002t0021	a0001c0001t0002g0056 a0001c0002t0021g0049 a0001c0001t0002g0056 a0001c0002t0021g0049	2	88	0.0227	680	c.41- others(697): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAACATGATGATATGATACTATA TCATCATATAACATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATATAACATGATGATATGATACTATATCATCAT AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(673): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATATTATATA ATAATATAATATATATTATTATATATATTATATAATAATATAATATATAT TATTATATAATATTATATATAATTATATATAATAATATAATATATATAAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATATTATTATATATAAT TATATATAATAATATATATATATTATTATATATAATTATATATAATAATA TATATATATTATTATATATAATTATATATAATAATATATATATATTATTA TATATTATTATATATAATATAATATATTATTATATATTATTATATATAAT AATATAATATATATTATATATTATTATATATAATAATATAATATATATTA TATATTATTATATATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	223	0.0045	680	c.392 others(697): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATATATAATAAT ATATAATAATATATATATATTATTATATATAATTATATATAATAATATAT ATATATTATTATATATAATTATATATAATAATATATATATATTATTATAT ATAATTATATATAATAATATATATATTATTATATATAATTATATATAATA ATATAATATATATTATTATATATAATTATATATAATAATATATATTATAT TATTATATATAATAATATATAATAATATATATTATATTATTATATATAAT AATATTATATATATTATATTATTATATATAATTATATATAATATTATATA ATAATATATATTATATTATTATATAATATATATAATAATATATATTATAT TATTATATAATATTATATATAATAATATATATTATATTATTATATATAAT TATATATAATATATATTATATTATTATATATAATTATATATAATAATATA TATTATGTTATTATATATAATAATATATAATAATATATATTATATTATTA TATATAATAATATATAATAATATATATTATATTATTATATATAATAATAT AT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(673): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	115	0.0087	680	c.246 others(699): Show c.246-36120_246-36119insTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(673): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03225.hp1 HG02080.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0209 a0001c0001t0001g0238	2	116	0.0172	680	c.246 others(699): Show c.246-36120_246-36119insTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(673): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	115	0.0087	680	c.246 others(699): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(673): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	115	0.0087	680	c.246 others(699): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results