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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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
EVC2_chr4_5557439_5713559	5666267	T T	TTTTTTAT others(823): Show TTTTTTATTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACGTGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTTCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAA TGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCC TGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAG TGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTC ATGTGTTTTTTGGCTGCATAAATGTCTTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01099.hp2 others(7): Show HG00642.hp1 HG01071.hp1 HG01099.hp2 HG01433.hp1 HG02004.hp1 HG03239.hp1 HG03834.hp1 HG03942.hp2 NA18990.hp2 NA19043.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0003c0006 a0003c0013 a0004c0010 a0013c0038	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0011t0001 a0003c0006t0001 a0003c0013t0002 a0004c0010t0001 a0013c0038t0005	a0001c0001t0001g0053 a0001c0001t0001g0146 a0001c0003t0001g0204 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0146 a0001c0003t0001g0204 a0001c0003t0004g0004 a0001c0011t0001g0202 a0003c0006t0001g0234 a0003c0006t0001g0236 a0003c0013t0002g0235 a0004c0010t0001g0123 a0013c0038t0005g0094	10	292	0.0343	830	c.871 others(845): Show c.871-619_871-618insGAGAAGACATTTATGCAGCCAAAAAACACA TGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACC ACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTC AGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATAT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGAAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACACG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA GAGTATAATAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAATAAAAA	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	7/21			chr4	TogoVar
FBN2_chr5_128252909_128543245	128539756	T T	TATATAAC others(823): Show TATATAACATATGATATATATATCATATATATCATATATATTATATCATA TATATTATATCATATATCATATATCATATATATGATATATATGATAGATC ATATATTATATCATATATATCATATATATGATAGATCATATATGATCTAT CATATATATCATATCATATATATCATATCATATATATCATATATCACATA TATCACATATATCATATATATCATATATCATATATATCATATATCACATA TATCATATATATCACATATCATATATATCATATATCATATATATCATATA TATCATATATCATATATATCATATATATCATATATATCATATATCATATA TATCACATATATCATATATATCATATATCATATATATCATATATCATATA TATCATATATATCATATATCATATATCATATATCATATATATCAATCATA TATATTATATATCATATATCATATATCATATATATCATATATCATATAAC ATATATATTATATATCATATATCATATATATTATATATCATATATCATAT ATATCATATATCATATATCATATATATCATATATCATATATATCATATAT CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CATATATCATATATATCATATATATCATATATCATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATATCATATATATCA TATATATCATATATATCATATATATCAATCTATTATATATATATCATATG ATATATATATATATCATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0020 a0027c0027t0008g0020	1	236	0.0042	830	c.-21 others(841): Show c.-2154_-2153insGATATATATGATATATGATATATATATATATCAT ATGATATATATATAATAGATTGATATATATGATATATATGATATATATGA TATATATGATATATATGATATATGATATATATGATATATATGATATATGA TATATATGATATATGATATATGATATATATGATATATATGATATATGATA TATATGATATATATGATATATGATATATATGATATATATGATATATGATA TATGATATATATGATATATGATATATATGATATATGATATATGATATATA TGATATATGATATATAATATATATGATATATGATATATAATATATATGTT ATATGATATATGATATATATGATATATGATATATGATATATAATATATAT GATTGATATATATGATATATGATATATGATATATGATATATATGATATAT ATGATATATGATATATATGATATATGATATATATGATATATGTGATATAT ATGATATATGATATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATGTGATATATATGATATAT GTGATATATGATATATATGATATATGATATATATGATATATGTGATATAT GTGATATATGATATATATGATATGATATATATGATATGATATATATGATA GATCATATATGATCTATCATATATATGATATATATGATATAATATATGAT CTATCATATATATCATATATATGATATATGATATATGATATAATATATAT GATATAATATATATGATATATATGATATATATATCATATGTTATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1512		chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586503	G G	GGGGGAAA others(823): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAATGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGGGACCACAGGGAGGTCAAAGGTAGGCGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	308	0.0033	830	c.157 others(847): Show c.1576+344_1576+345insGGGCGGGGGGGAAAGGAGGAGAGGGGGG ACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGGGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCAGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAA AGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAD1_chr2_170811887_170866151	170828481	C C	CTCCTCCC others(823): Show CTCCTCCCTCTGCTGTCCTTGATCTCCTCCCTCTGCTGTCCTTGCTCTCC TCCCTCTGCTGTCCTCACCCTCCTACCTCTGCTGTCCTCACCGTCCTCCT CTGCTGTCCTCACCCCTCCTCTTCCCTCTGTTGTCCTTGCCCTCCTCCCT CTGCTGTCCTCACCCTCCTCCCCTGTTGTCCTCACCCTCCTCCTCTGTTG TCCACACCCTTCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCT CACCCTCCTCCCCTGTTGTCCTCACCCTCCTCCTCTGTTGTCCACACCCT TCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTC CCCTGTTGTCCTCACCCTCCTCCTCTGTTGTCCACACCCTTCTCCCTCTG CTGTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTACCTCTGCTGT CCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTC ACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCC TCCTCCCTCTGCTGTCCTCGCCCTCCTCTCTGCTGTCCTCACCTCTCCTC TCTCTGCTATCCTCACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTT CCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCTTCCCT CTGCTGTCATCTTCCTCCCTCTGCTGTCCTCATCCCCTTCCCTCTGCTGT CCTCACCCTCCTCCCTCTGCTGTCCCCACCCTCCTCCCTCTGCTGTCCTC ACCCCTCCTCTTCCCTCCGCGGTCCTCGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG02965.hp1 others(1): Show HG01884.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 others(1): Show a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0329	4	412	0.0097	830	c.146 others(845): Show c.146-823_146-822insCTGTTGTCCTCACCCTCCTCCTCTGTTGTC CACACCCTTCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCA CCCTCCTCCCCTGTTGTCCTCACCCTCCTCCTCTGTTGTCCACACCCTTC TCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCC CTGTTGTCCTCACCCTCCTCCTCTGTTGTCCACACCCTTCTCCCTCTGCT GTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTACCTCTGCTGTCC TCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCAC CCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTC CTCCCTCTGCTGTCCTCGCCCTCCTCTCTGCTGTCCTCACCTCTCCTCTC TCTGCTATCCTCACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTTCC CTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCTTCCCTCT GCTGTCATCTTCCTCCCTCTGCTGTCCTCATCCCCTTCCCTCTGCTGTCC TCACCCTCCTCCCTCTGCTGTCCCCACCCTCCTCCCTCTGCTGTCCTCAC CCCTCCTCTTCCCTCCGCGGTCCTCGCTGTCCTCCCTCTGCTGTCCTTGA TCTCCTCCCTCTGCTGTCCTTGCTCTCCTCCCTCTGCTGTCCTCACCCTC CTACCTCTGCTGTCCTCACCGTCCTCCTCTGCTGTCCTCACCCCTCCTCT TCCCTCTGTTGTCCTTGCCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807891	C C	CTCCCCCC others(823): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGG GACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCGGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCGGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	314	0.0032	830	c.37 others(841): Show c.3725_*3726insTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCC AGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3605		chr2	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATTGTAT others(823): Show TATTGTATTTTATTGTATTTTATTGTATTTTATTGTATTTTATTGTATTT TATTGTATTTTATTGTATTTTATATTTTATTTTATATTTTATATTTTATT TTATTTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	394	0.0025	830	c.41- others(845): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAATA AAATAAAATATAAAATATAAAATAAAATATAAAATACAATAAAATACAAT AAAATACAATAAAATACAATAAAATACAATAAAATACAATAAAATACAAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(823): Show CTCCCCACACGCCAATCACACTCTCCAACCCCATCACACTCCCCACCCCC TCTAATCACATTCCCCATCCCTCTAATCACACACCCCATCCCCCTAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACC CCCCAATCACACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCAC CCCCAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCA CACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCAC CCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTA ATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCC CCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCT AATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCAATCACACTC CCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTC TAATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCC CCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCA ACACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACAC TCCCCACCCCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCCACC CCCCAATCACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	270	0.0037	830	c.104 others(849): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGTTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGG GATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGT GATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGG GTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTG TGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATT GGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTGGG GAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGAT TGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGG GAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGG GAGTGTGATTAGGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGTGA TTAGAGGGGGTGGGGAGTGTGATGGGGTTGGAGAGTGTGATTGGCGTGTG GGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(823): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01978.hp1 HG01168.hp2 HG01978.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	422	0.0047	830	c.-29 others(841): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGT ATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(823): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG01243.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0284 a0001c0001t0004g0285	2	330	0.0061	830	c.-5+ others(845): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAA GTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAA AATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATC AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(823): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGTGCAGGGAGGGTGGAGGGAGGGA GAGTGGGGAGGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAG AGTGGAAGGCAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGA GGACAGGGAGGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGG AGGATGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAG GCAGGGGGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTG GAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGA GGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAG GATGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGA GGGACAGTGGGGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTG GAGAGCAGGGAGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGG GAGGGAGAGTGGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGAGT GGGGAAGGTGGAGGGGAGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGCAG GGATGGTGGAGGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0185 a0001c0001t0039g0185	1	196	0.0051	830	c.321 others(849): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCCTCCCTCCCCTCCACCT TCCCCACTCTCCCTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCT CCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTG CTCTCCACCCTCCCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACT GTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCT CCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCC CTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCT CCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCC CCTGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCC ATCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCC TGTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTT CCACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCCTCCC CACTCTCCCTCCCTCCACCCTCCCTGCACTCCACCCTCCCTCCCCACTTC CCCCCCTCCACCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCC CACCCTCCCTGTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCT CCCTGCCTTCCACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACC CTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(823): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGG ACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACG GTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTG GGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTG GGGGGCGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0321 a0001c0001t0034g0321	1	324	0.0031	830	c.141 others(847): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCC CTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCT CACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCC CCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC GGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCA TCCCCCCCGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCC CC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(823): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG AGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAA TGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0274	1	324	0.0031	830	c.140 others(847): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACTCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(823): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAGGG GAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAA AGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGG GGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGG AGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCG GGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGA GGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0004 a0007c0026t0004	a0007c0026t0004g0205 a0007c0026t0004g0205	1	208	0.0048	830	c.279 others(845): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC CTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCT CCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(823): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCC TCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	68	0.0147	830	c.62- others(849): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG AATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(823): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCC TCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0052 a0001c0001t0017g0052	1	68	0.0147	830	c.62- others(849): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG AATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(823): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACACATATACATATATATGCATATGTGTGTATATATACATAT ACATATATATGCATATATATGTATATATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTGT ATATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATATAT GTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	456	0.0022	830	c.31 others(841): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTG TGTATATATACATATACATATATATGCATATATATGTATATATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATG TGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(823): Show TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCC TTCCTCCCTTCCTTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0162 a0001c0001t0022g0162	1	178	0.0056	830	c.773 others(845): Show c.773+621_773+622insTTCCTTCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTACCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCC TTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(823): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCT CTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACC TCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTG CACCTCCCCCTCCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	360	0.0028	830	c.37 others(841): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTC CCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3247		chr5	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(823): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATAATGATAGTGGTGATGATGGTGATGGTGATGATGGTGTTGGTGATGG TGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTG TTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGT GGTGATGATGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGGTGA TGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCG ATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGT GATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18612.hp1 NA19085.hp1 HG01517.hp1 NA18612.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0018 a0001c0002t0001 a0003c0005t0009 a0001c0001t0018 a0001c0002t0001 a0003c0005t0009	a0001c0001t0018g0164 a0001c0002t0001g0114 a0003c0005t0009g0010 a0001c0001t0018g0164 a0001c0002t0001g0114 a0003c0005t0009g0010	3	210	0.0143	830	c.438 others(849): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGG TGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGT GGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGG TGATGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGATG ATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGA TGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGTGGTGATGATGATGGT GGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGA TGGTGATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAGT GATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(823): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACATTATACATTATTATATAAGTATAT GTAATACATTATACATTATTATATAAGTATATGTAATATATATTATACAT TATTATATAAATATATGTAATATATATTATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0007 a0001c0001t0060g0007	1	220	0.0046	830	c.24+ others(847): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATTA TACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTA TATGTAATATATATTATACATTATTATATAAATATATGTAATATATATTA TA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(823): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	308	0.0033	830	c.-75 others(849): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAAT ATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	340	0.0029	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	340	0.0029	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03927.hp1 HG04204.hp1 HG01358.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0005g0078 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0005g0078	3	340	0.0088	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATTAATATATTA TATATTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	340	0.0029	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA ATATATAATATATTAATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATTATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	340	0.0029	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATAATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(823): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAG GGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0307 a0001c0001t0094g0307	1	322	0.0031	830	c.597 others(847): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTC TC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(823): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGGAGGGAGGGAGGAGGGAGGAAAGG AGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGGAGGGAGGAAGGAGGAG GGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAG GAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	322	0.0031	830	c.597 others(847): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTCCTTCCTCCCTCCCCTCCCTCCTTTCCTCCCTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCTCCCTCCCTCCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTCCTTTCCTC TC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TGATATTT others(823): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCAT ATATTTTATATATAATATATTATATTTTATATAAAATATATTATATTTTA TATAAAATATATTATATTTTATATAAATATATTATATTTTATATAAAATA TATTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATAT CATATATTTTATATAAAATATATTATATTTTATATTCATATATTTTATAT AAATATTATATTATATCATATATTTTATATATAATATATATATTTTATAT CATAATTTTATATATAATATATTATATTTTATATCATATATTTTATATAT AATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTT ATATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTA TATATAATATATTATATTTTATATCATATATTTTATATATAATATATTAT ATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATA TTTTATATATAATATATTATATTTTATATCATATATTTTATATATAATAT ATTATATTTTATATCATATATTTTATATATAATATATTTTATATCATATA TTTTATATATAATATATTTTATATCATATATTTTATATATAATATATTAT ATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATA TTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	396	0.0025	830	c.52+ others(845): Show c.52+2475_52+2476insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATATTATATATAAA ATATATGATATAAAATATATTATATATAAAATATATGATATAAAATATAA TATATTATATATAAAATATATGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATAATATATTATAT ATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGATA TAAAATATAATATATTATATATAAAATATATGATATAAAATATAATATAT TATATATAAAATATATGATATAAAATATAATATATTATATATAAAATTAT GATATAAAATATATATATTATATATAAAATATATGATATAATATAATATT TATATAAAATATATGAATATAAAATATAATATATTTTATATAAAATATAT GATATAAAATATAATATATTTTATATAAAATATATGATATAAAATATAAT ATATTTTATATAAAATATAATATATTTATATAAAATATAATATATTTTAT ATAAAATATAATATATTTTATATAAAATATAATATATTATATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT ATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48679098	T T	TGTCCATC others(823): Show TGTCCATCCCTCTCCCGGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCC CGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCCGTC CATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGGCTCCC CGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATC CCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTC TCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCGCCGTCCATCCCTCTCCG GGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCT CCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCC GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCC ATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCC CTCTCCCGGCTCCCTGTCCATCCCTCTCCGGTCTCCCTGTCCATCCCTCT CCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTCCCCGTCCATCCCTCTCCC AGCTCTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCT CCCCAGCTCCCCGTCCATCCCTCTCCCGTCTCTCTGTCCATCCCTCTCCC GGCTCCGCGTCCATCCCTCTCCCGGCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	258	0.0039	830	c.263 others(849): Show c.263-28599_263-28598insTGCGTCCATCCCTCTCCCGGCTCCCT GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCT CCCCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCC GTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGGCT CCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCC GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCC ATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCC CTCTCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCGCCGTCCATCCCTCT CCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGG GCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTC CCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCG TCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCA TCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCGGTCTCCCTGTCCATCCC TCTCCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTCCCCGTCCATCCCTCT CCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTG GCTCCCCAGCTCCCCGTCCATCCCTCTCCCGTCTCTCTGTCCATCCCTCT CCCGGCTCCGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCG GCTC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(823): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCACTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCT CCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCT ACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCT CCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	114	0.0088	830	c.-25 others(849): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCACTCT CCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCC TCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC CCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(823): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0137 a0001c0001t0052g0137	1	250	0.0040	830	c.82+ others(845): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ATG2B_chr14_96274195_96368341	96340093	T T	TATATCAT others(824): Show TATATCATATATGATATATATGAATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATGAATATATATATCATATATGA TATATATGAATATATATATCATATATGATATATATGAATATATATATCAT ATATGATATATATGAATATATATATCATATATGATATATATGAATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATGAATATATATATCATATATGATATATATGAATATA TATATCATATATGATATATATGAATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0244 a0001c0003t0046g0244	1	356	0.0028	831	c.924 others(848): Show c.924+1428_924+1429insCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(824): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGT GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	292	0.0034	831	c.207 others(852): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(824): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19056.hp1 NA18952.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0001 a0001c0003t0003 a0002c0004t0001	a0001c0003t0003g0071 a0002c0004t0001g0072 a0001c0003t0003g0071 a0002c0004t0001g0072	2	288	0.0069	831	c.303 others(850): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC TGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC CCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882452	G G	GGGAGAAG others(824): Show GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0286 a0001c0003t0030g0286	1	288	0.0035	831	c.303 others(850): Show c.303+23669_303+23670insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	336	0.0030	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0302 a0001c0001t0037g0302	1	336	0.0030	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0265 a0001c0001t0022g0265	1	336	0.0030	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0187 a0001c0001t0057g0187	1	336	0.0030	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18942.hp1 NA19063.hp1 HG00597.hp2 NA18942.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0061 a0001c0001t0002 a0001c0001t0061	a0001c0001t0002g0231 a0001c0001t0002g0269 a0001c0001t0061g0232 a0001c0001t0002g0231 a0001c0001t0002g0269 a0001c0001t0061g0232	3	336	0.0089	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18957.hp2 NA18980.hp1 others(2): Show HG02155.hp2 NA18957.hp2 NA18980.hp1 NA19074.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0180 a0001c0001t0002g0239 a0001c0001t0002g0260 others(2): Show a0001c0001t0002g0180 a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0004g0293 a0001c0001t0023g0282	5	336	0.0149	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(824): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	223	0.0045	831	c.-42 others(842): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(824): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	342	0.0029	831	c.844 others(848): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGGAA others(824): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	344	0.0029	831	c.85- others(848): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(824): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATAGAA TATAGAATATATATTATATATTATATATAATATATATTATATATAATATA GAATATAGAATATATATTATATATAATATAGAATATAGAATATATATTAT ATATAATATAGAATATAGAATATATATTATGTATATATAATATAGAATGT ATATTCTATATTATATATAATATAGAATATATAATATATTTATATATAAT ATAGAATATATTCTATATAATATAGAATATATAACATATTATATATAAAT ATAATATATATTCTATATTTAATAGAATATATAATATACATTCTATATTT ATCTAGAATATATAATATATTCTATATAAATATGGAATATATATTATATA TTCTATATTTATATAGAATATATAATATATTCTATATAATATATATTCTA TATATATATAGAATATATTCTATATATATATAGAATATATATTATATATA TAGAAAATATATTATATATTCTATATTTATATATAATATATATATTATAT TCTATATTTATATAGAATATAAATATATAATATATAATATTTGTATATGT ACTATATATTATATAATATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	2	240	0.0083	831	c.31 others(842): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTATAT TATATATAAATATATTATATATTCTATATTATATATAATATAGAATATAC ATTCTATATTATATATACATAATATATATTCTATATTCTATATTATATAT AATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTA TATTATATATAATATATATTATATATAATATATAATATATATTCTATATT CTATATTATATATAATATATAATATATATTCTATATTTATATATATCATA TATAATATATATTCTATATTTATATATAATATAATATATATTCTATATTT ATATATAATATATAATATATATTCTATATTTAATATTATATATAATATAT ATTCTATATTTATATATAATATATATTCTATATTTATATATTATATATAA TATATATTCTGTATTTATATATATTATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCTCCA others(824): Show CACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCTCCACCACCACCACCACCACCTCCACCTCCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCA CCACCACCACCTCCACCACCACCTCCACCATCACCACCTCCTTCACCATC ACCACCACCACCACCTCCACCACCACCTCCACCACCACCGTCACCACCTT CTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTA GCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0108 a0007c0108	a0007c0108t0012 a0007c0108t0012	a0007c0108t0012g0229 a0007c0108t0012g0229	1	256	0.0039	831	c.323 others(850): Show c.3234+1717_3234+1718insCCTCCACCACCACCACCACCACCACC TCCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTC CACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCACCTCCACCACCACCTCCAC CATCACCACCTCCTTCACCATCACCACCACCACCACCTCCACCACCACCT CCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACC ACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTC CAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19011.hp2 HG00558.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0325 a0001c0003t0001g0314 a0001c0003t0001g0325	2	384	0.0052	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	384	0.0026	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	384	0.0026	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

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