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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
MYT1L_chr2_1784113_2336275	1861897	A A	ACAGCCTG others(533): Show ACAGCCTGTGTAATCCTAGATCTGCCTGCAGCCTGTGTAATCCTGGATCT GCCTGCAGCCTGTGTAATCCTAGATCCGCCTGCAGCCTGTGTAACCCTAG ATCCACCTGCAGCCTGTGTAATCCTAGATCTGCCTGCAGCCTGTGTAATC CTGGATCTGCCTGCAGCCTGTGTAATCCTAGATCTGCCTGCAGCCTGTGT AATCCTGGATCCTCCTGCAGCCTGTGTAATCCTAGATCTGCCGGCAGCCT GTGTAATCCTGGATCCTTCTGCAGCCTGTGTAATTCTAGATCTGCCTGCA GCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTGTAATCCTAGATCTGCC GGCAGCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTGTAATCGTAGATC TGCCTGCAGCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTGAAATCCTG GATCCTCCTGCAGCCTGTGTAATCCTGGATCTGCCTGCAGCCTGTGTAAT CCTGGATCCTCCTGCAGCCTGTGTAATCCTGGATCTGCCTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	104	0.0096	540	c.271 others(561): Show c.2712-10195_2712-10194insCAGGCAGATCCAGGATTACACAGG CTGCAGGAGGATCCAGGATTACACAGGCTGCAGGCAGATCCAGGATTACA CAGGCTGCAGGAGGATCCAGGATTTCACAGGCTGCAGGAGGATCCAGGAT TACACAGGCTGCAGGCAGATCTACGATTACACAGGCTGCAGGAGGATCCA GGATTACACAGGCTGCCGGCAGATCTAGGATTACACAGGCTGCAGGAGGA TCCAGGATTACACAGGCTGCAGGCAGATCTAGAATTACACAGGCTGCAGA AGGATCCAGGATTACACAGGCTGCCGGCAGATCTAGGATTACACAGGCTG CAGGAGGATCCAGGATTACACAGGCTGCAGGCAGATCTAGGATTACACAG GCTGCAGGCAGATCCAGGATTACACAGGCTGCAGGCAGATCTAGGATTAC ACAGGCTGCAGGTGGATCTAGGGTTACACAGGCTGCAGGCGGATCTAGGA TTACACAGGCTGCAGGCAGATCCAGGATTACACAGGCTGCAGGCAGATCT AGGATTACACAGGCTG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	18/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(533): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTCCT CCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCC TCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0019 a0001c0013t0019	a0001c0013t0019g0065 a0001c0013t0019g0065	1	104	0.0096	540	c.153 others(557): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAG GGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGA GGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGG AGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2004243	G G	GTTCTTTC others(533): Show GTTCTTTCCTGCAGGCATTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGT TCTTTCCTGCATGCATTCTTTCCTGCATGCGTTCTTTCCTGCATGCATTC TTTCCTGCATGCATTCTTTCCTGCATACTTTCCTGCAGGCGTTCTTTCCT GCATATGTTCTTTCCTGCGTGCCTTCTTTCCTGCGTGCCTTCCTTCCTGT GTGCCTTCTTTCCTGCATACGTTCTTTCCTGTGTGCCTTCTTTCCTGCGT GCCTCCTTTCCTGCAGGCGTTCTTTCCTGAATATGTTCTTTCCTGCAGGC GTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGT TCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTC TTTCCTGCAGGCGTTCTTTCCTGCATACGTTCTTTCCTGCGTGCCTTCTT TCCTGTGTGCCTTCTTTCCTGCAGGCGTTCTTTCCTGAATATGTTCTTTC CTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0055 a0001c0003t0025g0055	1	104	0.0096	540	c.-15 others(559): Show c.-157-6897_-157-6896insTGCCTGCAGGAAAGAACGCCTGCAGG AAAGAACGCCTGCAGGAAAGAACATATTCAGGAAAGAACGCCTGCAGGAA AGAAGGCACACAGGAAAGAAGGCACGCAGGAAAGAACGTATGCAGGAAAG AACGCCTGCAGGAAAGAACGCATGCAGGAAAGAACGCATGCAGGAAAGAA CGCATGCAGGAAAGAACGCCTGCAGGAAAGAACGCCTGCAGGAAAGAACG CCTGCAGGAAAGAACGCCTGCAGGAAAGAACATATTCAGGAAAGAACGCC TGCAGGAAAGGAGGCACGCAGGAAAGAAGGCACACAGGAAAGAACGTATG CAGGAAAGAAGGCACACAGGAAGGAAGGCACGCAGGAAAGAAGGCACGCA GGAAAGAACATATGCAGGAAAGAACGCCTGCAGGAAAGTATGCAGGAAAG AATGCATGCAGGAAAGAATGCATGCAGGAAAGAACGCATGCAGGAAAGAA TGCATGCAGGAAAGAACGCATGCAGGAAAGAACGCCTGCAGGAAAGAATG CCTGCAGGAAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2004243	G G	GTTCTTTC others(533): Show GTTCTTTCCTGCAGGCATTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGT TCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCATTC TTTCCTGCATGCATTCTTTCCTGCATACTTTCCTGCAGGCGTTCTTTCCT GCATATGTTCTTTCCTGCGTGCCTTCTTTCCTGCGTGCCTTCCTTCCTGT GTGCCTTCTTTCCTGCATACGTTCTTTCCTGTGTGCCTTCTTTCCTGCGT GCCTCCTTTCCTGCAGGCGTTCTTTCCTGAATATGTTCTTTCCTGCAGGC GTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGT TCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTC TTTCCTGCAGGCGTTCTTTCCTGCATACGTTCTTTCCTGCGTGCCTTCTT TCCTGTGTGCCTTCTTTCCTGCAGGCGTTCTTTCCTGAATATGTTCTTTC CTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 NA18971.hp2 HG00544.hp2 HG00673.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0001 a0001c0019t0002 a0001c0003t0001 a0001c0019t0002	a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0019t0002g0061 a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0019t0002g0061	3	104	0.0289	540	c.-15 others(559): Show c.-157-6897_-157-6896insTGCCTGCAGGAAAGAACGCCTGCAGG AAAGAACGCCTGCAGGAAAGAACATATTCAGGAAAGAACGCCTGCAGGAA AGAAGGCACACAGGAAAGAAGGCACGCAGGAAAGAACGTATGCAGGAAAG AACGCCTGCAGGAAAGAACGCATGCAGGAAAGAACGCATGCAGGAAAGAA CGCATGCAGGAAAGAACGCCTGCAGGAAAGAACGCCTGCAGGAAAGAACG CCTGCAGGAAAGAACGCCTGCAGGAAAGAACATATTCAGGAAAGAACGCC TGCAGGAAAGGAGGCACGCAGGAAAGAAGGCACACAGGAAAGAACGTATG CAGGAAAGAAGGCACACAGGAAGGAAGGCACGCAGGAAAGAAGGCACGCA GGAAAGAACATATGCAGGAAAGAACGCCTGCAGGAAAGTATGCAGGAAAG AATGCATGCAGGAAAGAATGCATGCAGGAAAGAACGCATGCAGGAAAGAA CGCATGCAGGAAAGAACGCATGCAGGAAAGAACGCCTGCAGGAAAGAATG CCTGCAGGAAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(533): Show CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCAGGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAATGGACTA CAATCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0350 a0001c0001t0001g0351	2	378	0.0053	540	c.307 others(559): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCCTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(533): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAATGGACTA CAATCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGGCAAATGGACTATAACCACGCCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	378	0.0027	540	c.307 others(559): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTC CATTTGCCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(533): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAG TATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTAT GTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTA TACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0244 a0001c0004t0003g0244	1	362	0.0028	540	c.-75 others(559): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGT ATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGT GTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGT ATACATACATACAGTATACATACATACAGTATACATGCTGTACACAGTAT ACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(533): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATACA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	540	c.48 others(551): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398122	C C	CGGGTGCT others(533): Show CGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0000 a0001c0011t0000	a0001c0011t0000g0029 a0001c0011t0000g0029	1	382	0.0026	540	c.48 others(551): Show c.4809_*4810insTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4809		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(533): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	540	c.44 others(551): Show c.4483_*4484insTGAAAGCACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4483		chr4	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(533): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCACCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CACCATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCAC TGCCATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCA TCACCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATC ACCATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCAC CATGATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCA TCATCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACC ATCATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG03225.hp2 others(1): Show HG02258.hp2 HG02647.hp1 HG03225.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0010 a0002c0008t0010 a0001c0002t0010 a0002c0008t0010	a0001c0002t0010g0011 a0001c0002t0010g0012 a0001c0002t0010g0090 others(1): Show a0001c0002t0010g0011 a0001c0002t0010g0012 a0001c0002t0010g0090 a0002c0008t0010g0013	4	276	0.0145	540	c.111 others(557): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGAT GGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGG GGTAGTGATGGTGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGG TGGTGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGG TGATGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTG GTGATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGAT GATGTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(533): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	170	0.0059	540	c.175 others(561): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRAP_chr10_113583714_113669041	113647596	A A	AGTGGTAC others(533): Show AGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTGGTACTGCCTC CCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGGTACTG TCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGGT ACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCTGG TGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCC CCAGTGGTACTGTCTCCCCTGGTGGTACTGTCTCCCCCAGTGGTACTGCC TCCCCCAGTGGTACTGTCTCCCCCGGTGGTACTGTCTCCCCCAGTGGTAC TGCCTCCCCCAGTGGTACTGTCTCCCCTGGTGGTACTGTCTCCCCCAGTG GTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTGGTACTGCCTCCCCT GGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGGTACTGTCTC CCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0066 a0066	a0066c0095 a0066c0095	a0066c0095t0003 a0066c0095t0003	a0066c0095t0003g0302 a0066c0095t0003g0302	1	398	0.0025	540	c.889 others(555): Show c.889-570_889-569insCGGGGGAGACAGTACCACTAGGGGAGGAAG TACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAG GAAGTACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACTGGG GGAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCAC TGGGGGAGGCAGTACCACTGGGGGAGACAGTACCACCGGGGGAGACAGTA CCACTGGGGGAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGAC AGTACCACTGGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGG AGACAGTACCACCAGGGGAGACAGTACCACTAGGGGAGGAAGTACCACCG GGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAGTACC ACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAG TACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACTGGGGGAG GCAGTACCAC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRCAM_chr7_108142649_108461436	108164053	G G	GGGGTAAT others(533): Show GGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGTGGGGTAATGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CAGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGG TGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATA CCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGG TGGGGTAGTGAGAGGTCATACTGGGTGGGGTGGGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19088.hp2 NA18962.hp2 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0099 a0001c0004t0004g0205 a0001c0004t0004g0099 a0001c0004t0004g0205	2	208	0.0096	540	c.346 others(559): Show c.3466+2867_3466+2868insACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCAGTATGA CCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCA CCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTA CCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTA CCGCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACT ACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRDE2_chr14_90262860_90336941	90300869	G G	GGAGGGGA others(533): Show GGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGGGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGAAGGAGGAGG GAGAAGGGGGAGGGAGGAGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGATGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGAGAGGG GAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGAGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGAAGGGAGGGGAAGGGGAG GAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGA GGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGG GGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0309 a0001c0001t0060g0309	1	344	0.0029	540	c.154 others(557): Show c.1545+369_1545+370insTCCCTCCCCCCTCCTCCCCTCCCCTCCC TTCCCCCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCC TCCCCCTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTC CCCTCCCCTCTTCCTCCCCTTCCCCTCCCTTCCCCTCCCCCTTCTCCCTT CCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTC CCCTCTCCCTTTCCCCTCTCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCTCCTC CCTCCCCCTTCTCCCTCCTCCTTCCTCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCCCCTCCTCCCCTCCTCCCCCCC TCCCCTCCCCTC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(533): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCCGCCGGCCGGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACACCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCCCGTCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	362	0.0028	540	c.-27 others(557): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGACGGGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGTGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(533): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCTC CTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCTCCCT CCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCT ACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGC CTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCT CCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCC CTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0162 a0001c0003t0003g0162	1	350	0.0029	540	c.-15 others(551): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCC CTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCA CCCTCCTTCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTT CCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCT TCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTC CCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTC CCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCT TCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(533): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03041.hp2 HG02622.hp2 HG02630.hp2 HG03041.hp2	a0009 a0019 a0009 a0019	a0009c0022 a0019c0024 a0009c0022 a0019c0024	a0009c0022t0001 a0019c0024t0002 a0009c0022t0001 a0019c0024t0002	a0009c0022t0001g0180 a0019c0024t0002g0178 a0019c0024t0002g0179 a0009c0022t0001g0180 a0019c0024t0002g0178 a0019c0024t0002g0179	3	268	0.0112	540	c.292 others(555): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(533): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0097 a0097	a0097c0080 a0097c0080	a0097c0080t0002 a0097c0080t0002	a0097c0080t0002g0181 a0097c0080t0002g0181	1	268	0.0037	540	c.292 others(555): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(533): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18522.hp1 HG02647.hp1 NA18522.hp1	a0013 a0078 a0013 a0078	a0013c0119 a0078c0116 a0013c0119 a0078c0116	a0013c0119t0001 a0078c0116t0001 a0013c0119t0001 a0078c0116t0001	a0013c0119t0001g0155 a0078c0116t0001g0156 a0013c0119t0001g0155 a0078c0116t0001g0156	2	268	0.0075	540	c.292 others(555): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(533): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0064 a0001c0003t0008g0064	1	178	0.0056	540	c.773 others(555): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTCCCTTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(533): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATACATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATGTGTGCATATATATACATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	156	0.0064	540	c.196 others(561): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARVB_chr22_44019302_44177939	44114320	G G	GTTACTAA others(533): Show GTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATGCATTGTTACTAACTAAGGCCCTGCACCAACACAG ATACATTGTTACTAGCTAAGGCCCTGCACCAACACAGATACATTGTTACT AAGTAAGGCCCTGTACCAACACAGATATATTGTTACTAACTAAGGCCCTG CACCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGAT ACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAA GGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAG AACGGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACACTG TTACTAACTAAGGCCCTGTACCAACACAGATACATTGTTACTAAGTAAGG CCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACA CAAATACGTTCTTACTAAGTAAGGCCCTGCACCAACACAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	332	0.0030	540	c.274 others(557): Show c.274-4717_274-4716insTACTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGTAAGGCCCTGCACCAACACAGATGCATTGTTACTAACT AAGGCCCTGCACCAACACAGATACATTGTTACTAGCTAAGGCCCTGCACC AACACAGATACATTGTTACTAAGTAAGGCCCTGTACCAACACAGATATAT TGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAA GGCCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACA GATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTAC TAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAAGGCCCT GCACCAACACAGATACACTGTTACTAACTAAGGCCCTGTACCAACACAGA TACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTA ACTAAGGCCCTGCACCAACACAAATACGTTCTTACTAAGTAAGGCCCTGC ACCAACACAGAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(533): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCC ACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	332	0.0030	540	c.615 others(557): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCC CACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGG AGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCA AGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGG AGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	293522	C C	CGAGGCAC others(533): Show CGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAA GGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTG GGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAG GAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAA ACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGA TCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGA TACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGAC GGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGA GACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCA CGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAA GGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	360	0.0028	540	c.164 others(559): Show c.164-10150_164-10149insACAGGAAGAGCAGATCAAGAAGACGG GAACAGCATGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATC AAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATA CTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(533): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp1 others(3): Show HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001	a0001c0001t0001g0053 a0001c0002t0002g0186 a0001c0002t0008g0252 others(3): Show a0001c0001t0001g0053 a0001c0002t0002g0186 a0001c0002t0008g0252 a0001c0002t0008g0254 a0001c0003t0001g0042 a0001c0003t0001g0135	6	262	0.0229	540	c.129 others(557): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(533): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAGTA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	262	0.0038	540	c.129 others(557): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTACTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(533): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAATGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAG AAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	342	0.0029	540	c.20- others(555): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741418	C C	CGGGGGGC others(533): Show CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGTCTCGCGGG GGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0230	1	358	0.0028	540	c.143 others(555): Show c.143-243_143-242insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGTCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PITPNM1_chr11_67486768_67510363	67499568	T T	TCCATCCA others(533): Show TCCATCCATCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATC CACCCATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCA CCCACCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATC CATCCATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCA TCCAACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATC AACCCACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCA TCCATCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACC CATCCAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	300	0.0033	540	c.117 others(557): Show c.1171+154_1171+155insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGGGTAGATGG ATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGATGGGTGGGT GGGTGGGTGGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGGATGGATGG ATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGTAGGTGGAT GGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGGATGGATGA ATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTAGAT GGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAGGTGGATGG ATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PITPNM1_chr11_67486768_67510363	67499572	T T	TCCATCCA others(533): Show TCCATCCATCCATCCAACTACCCACCCGCCCACCCATCCATCCATCCACC CATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCA CCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATC CATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCA ACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACC CACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCA TCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATC CAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	300	0.0033	540	c.117 others(557): Show c.1171+150_1171+151insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGGGTAG ATGGATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGATGGGT GGGTGGGTGGGTGGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGGATGG ATGGATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGTAGGT GGATGGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGGATGG ATGAATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGT AGATGGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAGTTGG ATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PITPNM1_chr11_67486768_67510363	67499572	T T	TCCATCCA others(533): Show TCCATCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACC CATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCA CCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATC CATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCA ACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCACCAACC CACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCA TCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATC CAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	300	0.0033	540	c.117 others(557): Show c.1171+150_1171+151insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGGGTAG ATGGATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGATGGGT GGGTGGGTGGGTGGGTTGGTGGTTGGGTGGTTGGGTGGCTAGATGGATGG ATGGATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGTAGGT GGATGGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGGATGG ATGAATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGT AGATGGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAGGTGG ATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PITPNM1_chr11_67486768_67510363	67499572	T T	TCCATCCA others(533): Show TCCATCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACC CATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCA CCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATC CATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCA ACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACC CACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCA TCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATC CAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18962.hp1 NA18967.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0010 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0018 a0001c0028 a0003c0007 a0006c0012 a0007c0023 a0010c0020 a0013c0016 a0014c0013 a0015c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0018t0001 a0001c0028t0001 a0003c0007t0001 a0006c0012t0001 a0007c0023t0001 a0010c0020t0001 a0013c0016t0001 a0014c0013t0001 a0015c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0003g0120 a0001c0002t0001g0012 a0001c0002t0001g0042 a0001c0005t0001g0014 a0001c0006t0001g0016 a0001c0018t0001g0080 a0001c0028t0001g0116 a0003c0007t0001g0026 a0006c0012t0001g0066 a0007c0023t0001g0086 a0010c0020t0001g0070 a0013c0016t0001g0077 a0014c0013t0001g0067 a0015c0011t0001g0065	132	300	0.4400	540	c.117 others(557): Show c.1171+150_1171+151insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGGGTAG ATGGATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGATGGGT GGGTGGGTGGGTGGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGGATGG ATGGATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGTAGGT GGATGGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGGATGG ATGAATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGT AGATGGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAGGTGG ATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PITPNM1_chr11_67486768_67510363	67499576	T T	TCCATCCA others(533): Show TCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACCCATT CATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCA ACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATCCATC CATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCAACCA TTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACCCACC CACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCATCCA TCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATCCAAC CATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	300	0.0033	540	c.117 others(557): Show c.1171+146_1171+147insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGG GTAGATGGATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGAT GGGTGGGTGGGTGGGTGGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGG ATGGATGGATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGT AGGTGGATGGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGG ATGGATGAATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTAGATGGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAG GTGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PITPNM1_chr11_67486768_67510363	67499576	T T	TCCATCCA others(533): Show TCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACCCATT CATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCA ACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATCCATC CATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCAACCA TTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACCCACC CACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCATCCA TCCATCCATCTACCCACCCACCCACCCATCCACCCACCCATCCAACCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAACCATCCATC CATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCACCCATCTA CCCACCCACCCACCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0130 a0001c0004t0002g0130	1	300	0.0033	540	c.117 others(557): Show c.1171+146_1171+147insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCT AGATGGATGGATGGATGGATGGTTGGATGGATAGATGGGTGGGTGGGTGG GTGGGTAGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGTTGGATGGGTGGGTGGATGGGTGGGTGGGTGG GTAGATGGATGGATGGATGGATGAATGGTTGGGTGGGTGGGCGGATGGAT GGGTGGGTGGGTGGGTGGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGG ATGGATGGATGAATGGTTGGATGGATGGATGGATGGGTGGGTGGGTGGGT AGGTGGATGGATGGATGGATGGATGGTTGGGTGGGTGGGTAGATGGATGG ATGGATGAATGGTTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTAGATGGATGAATGGGTGGATGGATGGATGGGTGGGCGGGTGGGTAG GTGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(533): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTGCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0211	1	250	0.0040	540	c.309 others(559): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PODNL1_chr19_13926187_13943417	13936868	A A	AATCCCCC others(533): Show AATCCCCCAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCA ATCAACCCCACATGCCCCAACACCCCCACAATCGACCCCAAATGCGCCAT CACCCCCGCAATCAACCCCACATGCCCCAACACCCCCACAATCGACCCCA AATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCA ATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAA CACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCA CATGCCCCAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCA ATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCAT CACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCA AATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCA ATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	432	0.0023	540	c.226 others(555): Show c.226-409_226-408insGTGGGGTTGATTGCGGGGGTGATGGCGCAT TTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGT GATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGA TTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCAT GTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGT GTTGGGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGA TTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCAT TTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGT GATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGGGGCATGTGGGGTTGA TTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGGGGCAT GTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGT GTTGGGGGAT	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(533): Show ACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCC CGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGACCCCAAATGTG CCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCC CGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCC ACAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAAC CCCACATGCCCCAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCACAATCGACCCCAAATGCG CCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	432	0.0023	540	c.226 others(555): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGC GGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGTGGCATGTGG GGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTG GGGCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGG GGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTG TGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGC GGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PPP1R16B_chr20_38800697_38928024	38895835	T T	TCCTCCCT others(533): Show TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCT TCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCT TCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCC TCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCC TCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCT TCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCT TTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCC TTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCC TTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	244	0.0041	540	c.467 others(555): Show c.467+132_467+133insCCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTTCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCC TCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCT TCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCT TTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTC TTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCC TTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCTCCCTCC CTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCC CTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCC CTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTC TTCCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF31_chr19_54110754_54136713	54133800	C C	CCCTCCTT others(533): Show CCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18983.hp1 NA18948.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	227	0.0088	540	c.23 others(551): Show c.2368_*2369insCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2088		chr19	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(533): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACC ATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCC CACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCA GGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCATCCCC ACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAT CCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	330	0.0030	540	c.397 others(553): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGGATGG TGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTG GGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG GATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGG TGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGG ATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(533): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	330	0.0030	540	c.-51 others(551): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(533): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	330	0.0030	540	c.-49 others(551): Show c.-4917_-4916insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803282	T T	TGGGGGCC others(533): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	330	0.0030	540	c.-49 others(551): Show c.-4915_-4914insGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAG GGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4665		chr9	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(533): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCA CTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAA GCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTT AAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATC TCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGC CATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20752.hp2 HG00741.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0088 a0001c0001t0005g0087 a0001c0001t0003g0088 a0001c0001t0005g0087	2	152	0.0132	540	c.348 others(559): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGC TTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAG TGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTA AAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCT CTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGAT GGCTCTTAAAAGTG	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(533): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	412	0.0024	540	c.205 others(555): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(533): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0146 a0004c0006t0001g0146	1	412	0.0024	540	c.205 others(555): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCT CCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCAC GCTGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(533): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02717.hp1 others(2): Show HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0015 a0004c0006t0001g0145 a0004c0006t0001g0015 a0004c0006t0001g0145	5	412	0.0121	540	c.205 others(555): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCT CCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCAC GCTGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(533): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	412	0.0024	540	c.205 others(552): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(533): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	412	0.0024	540	c.205 others(552): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)