Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UCN3_chr10_5359966_5379692	5370041	A A	ATGGGTGT others(551): Show ATGGGTGTGTATGGGTGTGTATATGTGTGTATGTGTGCGTATGTGTGTGT GTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATAT GTGCGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATATGCGTGTATGTGTGTGTGTGCGTGTGTGTATGTGTGTAT ATGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGT GTGTATGTGTGTGTATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATGTGTATGTGTGTATGTGTGTGTATATGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGT ATGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTGTGTGT GTGTATGCGTGTGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTATGG GTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG02965.hp1 HG02280.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0014 a0001c0002t0010g0014	3	468	0.0064	558	c.-6- others(573): Show c.-6-3673_-6-3672insGGGTGTGTATGGGTGTGTATATGTGTGTAT GTGTGCGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGT GTGTATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATATGCGTGT GTATGCGTGTGTGTATATGCGTGTGTATATGCGTGTATGTGTGTGTGTGC GTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTATGTGTGTAT GTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATAT GTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTGTATGCGTGTGTGT ATATGCGTGTGTGTGTGTGTGTATGCGTGTGTGTGTGTGTGTATATGCGT GTGTATGCGTGTGTATGGGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATGTGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VIPR2_chr7_159023175_159149867	159132769	C C	CAGACAGA others(551): Show CAGACAGAATGATTGGCATACCGATTGATTTGAGACAGAATGATTGGCAT ACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGATTTCAGACAG AATGATTGGCATACAGATTGATTTGAGACAGAATGATTGGCATACAGATT GATTTCAGACAGAATGATTGGCATACCGATTGATTTTAGACAGAATGATT GGCATACAGATTGATTTGAGACAGAATGATTGGCATACAGATTGATTTGA GACAGAATGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATAC CGATTGATTTTAGACAGAATGATTGGCATACCGATTGATTTGAGACAGAA TGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGA TTTCAGACAGAATGATTGGCATACCGATTGATTTGAGACAGAATGATTGG CATACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGATTTCAGA CAGAATGATTGGCATACAGATTGATTTTAGACAGAATGATTGGCATACAG ATTGATTTG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	336	0.0030	558	c.151 others(575): Show c.151+9676_151+9677insCAAATCAATCTGTATGCCAATCATTCTG TCTAAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAATCTGTATG CCAATCATTCTGTCTAAAATCAATCGGTATGCCAATCATTCTGTCTCAAA TCAATCGGTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCA TTCTGTCTAAAATCAATCGGTATGCCAATCATTCTGTCTCAAATCAATCG GTATGCCAATCATTCTGTCTAAAATCAATCGGTATGCCAATCATTCTGTC TAAAATCAATCGGTATGCCAATCATTCTGTCTCAAATCAATCTGTATGCC AATCATTCTGTCTCAAATCAATCTGTATGCCAATCATTCTGTCTAAAATC AATCGGTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATT CTGTCTCAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAATCTGT ATGCCAATCATTCTGTCTAAAATCAATCGGTATGCCAATCATTCTGTCTC AAATCAATCGGTATGCCAATCATTCTGTCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(552): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGAGATGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGA GGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0008 a0002c0065t0008	a0002c0065t0008g0127 a0002c0065t0008g0127	1	228	0.0044	559	c.259 others(580): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTT TCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATC CCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(552): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGGAGGAGGAGGGGGGGAGGAGGGGGGAGGAGGGGGGAGGA GGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGG AGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGG GGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0058 a0001c0001t0044g0058	1	301	0.0033	559	c.125 others(580): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCCCTCCTCCTCC CCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTC CTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTT CTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCC CTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ATE1_chr10_121735424_121933031	121751017	T T	TAAAATAG others(552): Show TAAAATAGCACATGTATGTTTATTGCGGCACTATTCACAATAGCAAAGAC TTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGT GGCACATATACATCATGGAATACTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGATTA CTAGGTTGTTTTCAACAGAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0232 a0001c0002t0007g0232	1	320	0.0031	559	c.137 others(578): Show c.1379-7160_1379-7159insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCATTCTGTTGAAAACAACCTAGTAATCTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGATGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACATGTGCTATTTT	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	11/11			chr10	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(552): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATATAATCTATATTATATATAATATAGATTATATATATA ATCTATATTATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATAATCT ATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTAT ATTATATATAATATAGATTATATATATAATCTATATTATATAATCTATAT TATATATAATATAGATTATATATATAATCTATATTATATATAATATAGAT TATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTA TATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATA TATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATA TATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATA TAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0296 a0001c0002t0007g0296	1	382	0.0026	559	c.37 others(570): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATATAATCTATATTATATATAATA TAGATTATATATATAATCTATATTATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTA TATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATA TTATATAATCTATATTATATATAATATAGATTATATATATAATCTATATT ATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTAT ATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATAT ATAATATAGATTATATATATAATCTATATTATATAATCTATATTATATAT AATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAA TATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(552): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCACAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCACAGCCCCGTCC GGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	391	0.0026	559	c.36 others(570): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC TGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCACAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCACAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(552): Show GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0120 a0002c0030t0001g0120	1	184	0.0054	559	c.784 others(574): Show c.784-555_784-554insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGAGGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0009 a0004c0005t0001g0009	1	300	0.0033	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGAGGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAG GGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGTGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	300	0.0033	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0001 a0003c0010t0001g0001	1	300	0.0033	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA CGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	300	0.0033	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(552): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGTGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA CGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	300	0.0067	559	c.-70 others(568): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGTGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235400	A A	AAGTGAGG others(552): Show AAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGGGAAGGGG AGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGG AGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAG GAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AGGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0015 a0003c0010t0001g0015	1	300	0.0033	559	c.-69 others(568): Show c.-697_-696insAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGG GAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAG GGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGA GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAA GTGGGGAAGGGGAAGGGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		504		chr20	TogoVar
C1QTNF8_chr16_1083226_1101244	1093003	C C	CCGTGCAC others(552): Show CCGTGCACACAGTCAGCGCTCAACCAATCACAGCACACAGTCGGCGCTCA ACCAATCACTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGG CGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACAC AGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCCT GCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCA ATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGCT CAATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTC GGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAGCAC ACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCC GTGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAAC CAATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCG CTCAATCAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	396	0.0025	559	c.4+ others(572): Show c.4+493_*4+494insATTGATTGAGCGCCGACTGTGTGCTGTGATTT GTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAG GGATTGATTGAGCGCCGACTGTGTGCACGGATTCGTTGAGCGCCGACTGT GTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCC GACTGTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGTTG AGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGAT TTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGC AGGGATTGATTGAGCGCCGACTGTGTGCAGGGATTCGTTGAGCGCCGACT GTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCG CCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGT TGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCTGTG ATTGGTTGAGCGCTGACTGTGTGCACG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882498	G G	GCGGGAGA others(552): Show GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	288	0.0035	559	c.303 others(578): Show c.303+23623_303+23624insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(552): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC TCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	256	0.0039	559	c.-45 others(580): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(552): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC TCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	256	0.0039	559	c.-45 others(580): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(552): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03471.hp2 HG01496.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	2	354	0.0057	559	c.69 others(570): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(552): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0010 a0002c0001t0002g0010	1	354	0.0028	559	c.69 others(570): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(552): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTAATATATAAAATAAATATTTATTTTATATATAAAA TAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATA AATATTTATTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	402	0.0025	559	c.80- others(574): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(552): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGG ATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGAACTAC TGTATACACACCAGATGAGGATAAGGGGGACTACTGTATACACACCGGAT GAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGA CTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACAC CGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGG GGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATA CACACCGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	370	0.0027	559	c.891 others(574): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCC GTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAG TCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTTCCCCCTTATCCTCA TCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACA ATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCG TGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500961	T T	TGTGGGTG others(552): Show TGTGGGTGGGGGTGTGTGGGGGTGTGGTTGGTGTGGTGTGGTGTGGGTGT GTGTGTGGGGGTGTGGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGGTGGG TGTGGTGTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTGGGTGGGTGTGTTGGGTGGTGTGGGGGGTGGG GGGTGTGGGTGGTGGGTGTGTGGGTGTGGGGTGTGGTGGTGTGGGTGTGG TGTGTGTGTGGGTGTGTAGGTGGGGGTGTGGTAGGTGTGTGGGGGTGGGT GTGGGGGTGTGGTGGGTGTGTGTGTGTGGGTGGGTGTGGGGGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGGTGTGTGGGGGGTGTGGGTGTTGGTGGGG TGTGTGGTGTGGGGGGTGTGGTTTGGTGTGTGTGGTGGGGTGGGGGGTGT GGGGTGTGGGTGGGGTGGTGTGGTGTGGGGTGTGTAGTGTGGGGGGTGGG TGGTGGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0003 a0001c0073t0003	a0001c0073t0003g0034 a0001c0073t0003g0034	1	292	0.0034	559	c.268 others(578): Show c.2684-3047_2684-3046insGGTGGGGGTGTGTGGGGGTGTGGTTG GTGTGGTGTGGTGTGGGTGTGTGTGTGGGGGTGTGGGTTTGGTGTGTGTG TGTGGGTGTGTAGTGGTGGGTGTGGTGTGGTGTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGGGTGTGT TGGGTGGTGTGGGGGGTGGGGGGTGTGGGTGGTGGGTGTGTGGGTGTGGG GTGTGGTGGTGTGGGTGTGGTGTGTGTGTGGGTGTGTAGGTGGGGGTGTG GTAGGTGTGTGGGGGTGGGTGTGGGGGTGTGGTGGGTGTGTGTGTGTGGG TGGGTGTGGGGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTGTGTGGG GGGTGTGGGTGTTGGTGGGGTGTGTGGTGTGGGGGGTGTGGTTTGGTGTG TGTGGTGGGGTGGGGGGTGTGGGGTGTGGGTGGGGTGGTGTGGTGTGGGG TGTGTAGTGTGGGGGGTGGGTGGTGGTGTGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(552): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGG AGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0223 a0002c0043t0001g0223	1	344	0.0029	559	c.85- others(576): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCC TGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(552): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATAGTAC CCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGT CCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCC TGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATG ATGAACGGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACG GTGTCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTC AATAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTA CCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGTA TCCCCTCCTCCAATGATGAATGGTGCCTCAGTAGTACCCCGTGTCCACTC CTCCAATGATGAACGGTGTCTCAATGGTACCCCGTGTCCACTCCTGCAAT GATGAATGGTGCCTCAATGGAACTCCGTGTCCACTCCTGCAATGATGAAT GGTGCCTCAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0015 a0001c0068t0015	a0001c0068t0015g0049 a0001c0068t0015g0049	1	126	0.0079	559	c.134 others(580): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGAGTTCCATTGAGGCACCATTCATCATTGCAGGAGTGGA CACGGGGTACCATTGAGACACCGTTCATCATTGGAGGAGTGGACACGGGG TACTACTGAGGCACCATTCATCATTGGAGGAGGGGATACGGGGTACTATT GAGGCACCATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCAC CATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGGCACCATTCAT CATTGCAGGAGTGGACACGGGGTACCATTGAGACACCGTTCATCGTTGGA GGAGTCGACATGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGG ACATGGGGTACTATTGAGACACTATTCATCATTGCAGGAGTGGACACGGG GTACCATTGAGGCACCGTTCATCATTGGAGGGGTGGACACGGGGTACCAT TGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGGCA CCATTCATCATTGGAGGAGTGGACACGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(552): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTACCAC TACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCA CCACCACCATTATCACCATCACCATCACACACCACAACTACCACCACCAC CACCATCACCACTATAACCACTAGCACCACCACTACTATAACCATCACCA CCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATCACC ACCACCACTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0184 a0001c0001t0043g0184	1	230	0.0044	559	c.724 others(578): Show c.724-10675_724-10674insCAGTGGTGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG GTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(552): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCCACCCGCACCCCCACCCCCACCCCCACC CGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCC CACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCG CACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACC CTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCC CACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCA CCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	559	c.39 others(570): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(552): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCCACCCGCACCCC CACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCG CACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACC CCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCG CACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCA CCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	320	0.0031	559	c.39 others(570): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGGTGAGGGT GGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGC GGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(552): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACC CGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCC CACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCG CACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCCCCCCCA CCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACC CCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCG CACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCA CCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	320	0.0031	559	c.39 others(570): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGGGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
EXD3_chr9_137301896_137428162	137350195	T T	TAGATAGA others(552): Show TAGATAGAGAGGGGTGGGGATTATGGGGAGAGAGCTAGATAGAGAGGGGT GGGGATCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAA GGTGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGTTAGATAGAGAG GGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGG GGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATA GAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGAT CACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCATGGGGAGGGGGCT AGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTG GGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGAGGAGG GGGAGAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGAGAGATAGAGAG GGGTGGGGATCACGGGGAGGGGGAGAGATAGAGAGGGGTGGGGATCACGG GGAGGGGGCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp2 HG03130.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp1	a0008 a0027 a0008 a0027	a0008c0013 a0008c0020 a0027c0035 a0008c0013 a0008c0020 a0027c0035	a0008c0013t0001 a0008c0020t0001 a0027c0035t0001 a0008c0013t0001 a0008c0020t0001 a0027c0035t0001	a0008c0013t0001g0039 a0008c0020t0001g0005 a0027c0035t0001g0040 a0008c0013t0001g0039 a0008c0020t0001g0005 a0027c0035t0001g0040	3	82	0.0366	559	c.149 others(576): Show c.1495-665_1495-664insCGCCCCCTCCCCGTGATCCCCACCCCTC TCTATCTCTCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCT CCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCTCCTCGTGATCCCCAC CCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGA ACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCCATGATC CCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTAT CTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCG TGATCCCCACCCCTCTCTATCTAGCCCCCTCCCCGTGATCCCCACCCCTC TCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAACCCCTC CCCGTGATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCATC CCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCT CTCTCCCCATAATCCCCACCCCTCTCTATCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(552): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCC TGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCT TTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTC CTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCT TCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCC TCTTCTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0194 a0001c0001t0039g0194	1	234	0.0043	559	c.489 others(578): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(552): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGG GTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGT GGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGG GTGCGGTTGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	282	0.0036	559	c.684 others(572): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGT GGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGG GTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGC GATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGT TGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(552): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG01515.hp1 others(1): Show HG01099.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0002 a0007c0007t0007 a0003c0003t0002 a0007c0007t0007	a0003c0003t0002g0002 a0003c0003t0002g0040 a0007c0007t0007g0250 a0003c0003t0002g0002 a0003c0003t0002g0040 a0007c0007t0007g0250	4	268	0.0149	559	c.-28 others(570): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IGSF9B_chr11_133891438_133961968	133932648	A A	ACAGACAG others(552): Show ACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGG GAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTG GGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGAC AGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACA GGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGG AGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAG ACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACA CAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCA GGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCCAGGTGGGAGAGCAG ACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACATACAGACA CAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCA GGTGGGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0285 a0001c0001t0054g0285	1	362	0.0028	559	c.968 others(574): Show c.968-436_968-435insCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTATGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTG	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(552): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0119 a0002c0003t0001g0119	1	308	0.0033	559	c.127 others(578): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997134	T T	TTGGGGGC others(552): Show TTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT AGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGG GCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	375	0.0027	559	c.-23 others(570): Show c.-2335_-2334insTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		536		chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87738881	C C	CCTCATCC others(552): Show CCTCATCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0035 a0007c0009t0004g0035	1	380	0.0026	559	c.507 others(576): Show c.507-8238_507-8237insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK7_chr19_50971468_50988917	50981369	A A	AGGGGGAC others(552): Show AGGGGGACAGAGCCCCAGGGAGAGGGGGTACAGAGGCCCAGGGAGAGGGG GACAGAGATCCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGGGACAGA GACCCAGAGAGAGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGCCCC AGAGAGAGGAAGACAGAGAGCCAGGGAGAGAGGGGGACAGAGCCCCAGGG AGAGGGGGACAGAGATCCGGAGAGAGAGGAGGGGGAACAGAGACCAGAGA GAGAGGGGAACAGAGACCCAGAGAGAGAGGGACAGAGACCCACAGAGAGA GGAGGGGGAACAGAGACCAGAGAGAGAGGGTGACAGAGACCCAGAGAGAG AGGGTGACAGAGACCCAGAGAGAGAGGGACAGAGACCAGAGAGAGAGGAG GGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGACCCAGAGAGAGAGGG ACAGAGACCCAGAAAGAGAGGAGGGGGAACAGAGACCCAGAGAGAGAGGG GGACAGAGACACAGAGGGGAACAGAGATCCAGAGAGAAAGGCAGACAGAG ACCCAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(105): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0002t0006 a0001c0010t0002 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0106 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0002g0002 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0007g0159 a0001c0001t0009g0151 a0001c0001t0017g0170 a0001c0002t0006g0152 a0001c0002t0006g0158 a0001c0010t0002g0145 a0003c0009t0001g0144	108	384	0.2813	559	c.221 others(574): Show c.221+397_221+398insCTCTCTGGGTCTCTGTCTGCCTTTCTCTCT GGATCTCTGTTCCCCTCTGTGTCTCTGTCCCCCTCTCTCTCTGGGTCTCT GTTCCCCCTCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCT GTCCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCTGGTCTCT GTCCCTCTCTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTCTCTGTCA CCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGTCTCTGTC CCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTGTTCCCCC TCCTCTCTCTCCGGATCTCTGTCCCCCTCTCCCTGGGGCTCTGTCCCCCT CTCTCCCTGGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCCCCTCTCT CTCTGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGG TCTCTGTCCCTCTCTCTCTGGATCTCTGTCCCCCTCTCCCTGGGCCTCTG TACCCCCTCTCCCTGGGGCTCTGTCCCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GAGAAGGA others(552): Show GAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAG GGAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGA GGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAA AAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAA GGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGA ACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGG AACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGG AAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGA AGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGA AGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0042 a0001c0049t0001g0042	1	88	0.0114	559	c.507 others(578): Show c.5071+1912_5071+1913insAGAAGGATGAAGGGAGGAAGGAAGGA AGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAGGTGGAAGGAAG GAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGA GAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAAC AAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAA AGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGG AAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAG GAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAA CAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAA AAGGAGGGAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAG GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAA GGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64			chr6	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(552): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACCTCC TTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAGCACACACACA CCTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATC TCCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACA CCCCTCCAAACACACACACACACACCTCCTTCAAACACACACACCCTCCA AACACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACAC ACACCTAACACACACCTTCAAACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACCTCCACACACATACCTAACAC ACACCTCCTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	262	0.0038	559	c.212 others(578): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACCTCCTTCAAACACACACCCTCCAAACACACACA CCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACG CCTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACA CCTTCTTCAAACACACACACACCCCTCCAAACACACACACACACACCTCC TTCAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACA CACACCTCCAAAGACACACACACACCTAACACACACCTTCAAACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACAC CTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATATAAA others(552): Show TATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATATA CTACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTAT ATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATATATATATATTTATATGTATTTATATA TATTTATATGTATTTATATATATTTATATATTTATATGTATTTATACATA TATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATTATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	260	0.0039	559	c.125 others(576): Show c.125+9485_125+9486insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATACTACATATATTTTTATATTTTATATATAT TTATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATATATAT ATATTTATATGTATTTATATATATTTATATGTATTTATATATATTTATAT ATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTAT ATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507304	G G	GGGGGGGT others(552): Show GGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGATAGGGA GTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAG GATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	260	0.0039	559	c.624 others(576): Show c.624+9176_624+9177insGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(552): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTG TGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCG TGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTG GAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGG CGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGA GGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCGT GGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0306 a0001c0008t0001g0306	1	388	0.0026	559	c.159 others(576): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGA GGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTG GAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGC GTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGG GGGGGGCGTGGAGGGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195760489	G G	GTGGAGGG others(552): Show GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAT GGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGG AAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCA CTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTG GAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGG AGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGA AGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0121 a0121	a0121c0057 a0121c0057	a0121c0057t0001 a0121c0057t0001	a0121c0057t0001g0108 a0121c0057t0001g0108	1	249	0.0040	559	c.148 others(578): Show c.14848+394_14848+395insTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCAC TCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGC TGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCC AGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTC CATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTG GACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAG CCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCC ATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(552): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01515.hp2 others(2): Show HG01099.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0262 a0002c0002t0001g0284 others(1): Show a0002c0002t0001g0051 a0002c0002t0001g0262 a0002c0002t0001g0284 a0002c0002t0001g0285	5	422	0.0119	559	c.195 others(576): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(552): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18990.hp1 NA18995.hp2 NA18955.hp2 NA18990.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0007 a0001c0011t0001 a0001c0001t0007 a0001c0011t0001	a0001c0001t0007g0262 a0001c0011t0001g0260 a0001c0011t0001g0261 a0001c0001t0007g0262 a0001c0011t0001g0260 a0001c0011t0001g0261	3	324	0.0093	559	c.140 others(576): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852543	A A	ATAATATA others(552): Show ATAATATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTA TATATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATA TATAGTTTTAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAAACTATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAA CTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTT AAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAG TTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGT TTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATA TAGTTTAAAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19074.hp1 NA18982.hp1 NA19074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0173 a0002c0004t0001g0189 a0002c0004t0001g0173 a0002c0004t0001g0189	2	244	0.0082	559	c.342 others(578): Show c.342-12030_342-12029insGTTTAAACTATATAAAAAAATATAAA CTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAGTTTAAAA CTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTT AAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATA GTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTA TATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATAT AGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATAGTT TAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTA AAACTATAAACTATATAGTTTAAAACTATATTA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(552): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGT AGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACT ATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAA ACTATATAGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00741.hp2 others(18): Show HG00558.hp1 HG00673.hp2 HG00741.hp2 HG01884.hp2 HG01981.hp1 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02602.hp2 HG03017.hp2 HG03579.hp2 HG03942.hp1 HG04228.hp1 NA18959.hp1 NA18959.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0009 others(2): Show a0002c0001 a0002c0004 a0002c0009 a0002c0010 a0002c0019	a0002c0001t0001 a0002c0004t0001 a0002c0009t0001 others(2): Show a0002c0001t0001 a0002c0004t0001 a0002c0009t0001 a0002c0010t0001 a0002c0019t0001	a0002c0001t0001g0119 a0002c0001t0001g0127 a0002c0001t0001g0131 others(18): Show a0002c0001t0001g0119 a0002c0001t0001g0127 a0002c0001t0001g0131 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0148 a0002c0001t0001g0155 a0002c0001t0001g0174 a0002c0001t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0191 a0002c0004t0001g0205 a0002c0009t0001g0125 a0002c0009t0001g0126 a0002c0010t0001g0149 a0002c0010t0001g0150 a0002c0010t0001g0153 a0002c0019t0001g0204	21	244	0.0861	559	c.342 others(578): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTAT ATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(552): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGT AGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACT ATATAGTTTATGTAGTTTTAAGCTAGTTTATATTTTTTTATATAGTTTAA ACTATATAGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0132 a0002c0001t0001g0132	1	244	0.0041	559	c.342 others(578): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGCTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTAT ATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar

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Search Results (Total: 10000 hits)