Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MIER2_chr19_300573_349796	309871	G G	GACACACA others(245): Show GACACACACACGCACACAAGGCTTCAGGGACACGAGAAGGGACACACACA CACACGCACACAAGGCTTCAGGGAGACGAGAAGAGACACACACACGCACA CAAGGCTTCAGGGAGACGAGAAGGGACACACACACGCACACAAGGCTTCA GGGAGACGAGAAGGGACACACACACACACACACAAGGCTTCAGGGAGACG AGAAGGGACACACACACACACGCACACAAGGCTTCAGGGAGACGAGAAGG GAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	384	0.0026	252	c.985 others(267): Show c.985-947_985-946insGTCCCTTCTCGTCTCCCTGAAGCCTTGTGT GCGTGTGTGTGTGTGTCCCTTCTCGTCTCCCTGAAGCCTTGTGTGTGTGT GTGTGTGTCCCTTCTCGTCTCCCTGAAGCCTTGTGTGCGTGTGTGTGTCC CTTCTCGTCTCCCTGAAGCCTTGTGTGCGTGTGTGTGTCTCTTCTCGTCT CCCTGAAGCCTTGTGTGCGTGTGTGTGTGTGTCCCTTCTCGTGTCCCTGA AGCCTTGTGTGCGTGTGTGTGT		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13						chr19	TogoVar
MPPED1_chr22_43407014_43512848	43495477	A A	AGGTGGTG others(245): Show AGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGATGGT GGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGAGGAGGTACTAGTAA TGGAGGTGGTGGTGGAAGTGCTGGTGATGGTGGAGGTGGTGGTGGTGGAA GTGCTGGTTATGGTGGTGGTGGTGGTGATGGAGGTGGTGGTGATGGTGGA GGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	250	0.0040	252	c.633 others(269): Show c.633-2747_633-2746insTGGTGGAGGTGGTGGTGGTGGAGATGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTGGTGGTGGTGG AGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGAGGAG GTACTAGTAATGGAGGTGGTGGTGGAAGTGCTGGTGATGGTGGAGGTGGT GGTGGTGGAAGTGCTGGTTATGGTGGTGGTGGTGGTGATGGAGGTGGTGG TGATGGTGGAGGTGGTGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(245): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAG GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	250	0.0040	252	c.748 others(269): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGAT GGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGTGGTGGTGGTGATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPS9_chr2_105033069_105104960	105054579	A A	ACCCCTTT others(245): Show ACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	394	0.0025	252	c.315 others(269): Show c.315+5242_315+5243insTGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(245): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGC GGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02257.hp1 others(7): Show HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	10	394	0.0254	252	c.315 others(269): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTA AATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGTGTGGA others(245): Show GGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGG GGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	388	0.0026	252	c.159 others(269): Show c.1596+242_1596+243insTGTGGAGGGGGGCGCGTGGGGGTGTGTG GGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGG AGGGGGGTGCGTGGAGGAGGGGCG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATATATA others(245): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	350	0.0029	252	c.-25 others(263): Show c.-2564_-2563insATATATAAAAATTTATATTTATATATCATAAATA TATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATA TTTATATATCATAAATAT		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2465		chr3	TogoVar
NAGK_chr2_71063648_71084808	71081115	T T	TTTATTTT others(245): Show TTTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	252	c.26 others(263): Show c.2607_*2608insTTATTTTATTTTATTTTATTTTATTTTATTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATG		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1308		chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	378	0.0027	252	c.238 others(269): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02074.hp2 HG01433.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0272 a0001c0001t0002g0043 a0001c0001t0001g0272 a0001c0001t0002g0043	2	378	0.0053	252	c.238 others(269): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19062.hp1 NA19090.hp2 NA18994.hp2 NA19062.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0002g0056 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0002g0056	3	378	0.0079	252	c.238 others(269): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	378	0.0027	252	c.238 others(269): Show c.2389-223_2389-222insGATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02735.hp1 HG01952.hp1 HG02735.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0020 a0001c0001 a0014c0020	a0001c0001t0002 a0014c0020t0001 a0001c0001t0002 a0014c0020t0001	a0001c0001t0002g0041 a0014c0020t0001g0348 a0001c0001t0002g0041 a0014c0020t0001g0348	2	378	0.0053	252	c.238 others(269): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(245): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	378	0.0027	252	c.238 others(269): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(245): Show ACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCCTGCACCCCGGGCTCCA CACCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	252	c.-41 others(263): Show c.-4198_-4197insCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCCT GCACCCCGGGCTCCACACCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACC CCTGCACCCCGGGCTCCACACCCCCCCCCCAGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCC		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4083		chr22	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(245): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0313 a0001c0008t0003g0313	1	324	0.0031	252	c.140 others(269): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(245): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0316 a0001c0004t0003g0316	1	324	0.0031	252	c.140 others(269): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(245): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0093	1	324	0.0031	252	c.140 others(269): Show c.140+8426_140+8427insAGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCG ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCT CCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC GACCCACCCTGCACCCATTGCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(245): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCATGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0012 a0012	a0012c0067 a0012c0067	a0012c0067t0009 a0012c0067t0009	a0012c0067t0009g0183 a0012c0067t0009g0183	1	324	0.0031	252	c.140 others(269): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCATGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCT CCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC GACCCACCCTGCACCCATTGCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGGGG others(245): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0270 a0001c0004t0010g0270	1	324	0.0031	252	c.140 others(269): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPIPB12_chr16_29478534_29511408	29485113	A A	AGGCAGGT others(245): Show AGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00741.hp1 HG00741.hp2 others(1): Show HG00140.hp1 HG00741.hp1 HG00741.hp2 HG01346.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0018 a0002c0001t0002g0019 others(1): Show a0002c0001t0002g0016 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020	4	21	0.1905	252	c.136 others(261): Show c.1362_1363insGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGC GGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAG CGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAA TATCAAGACACCTGCC	p.Ala others(265): Show p.Ala454_Phe455insGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProP roSerAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArg LeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrProSe rGluArgGlnLeuThrProLeuProProSerAlaProProSerAlaAspA spAsnIleLysThrProAla	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2025/3605	1362/2787	454/928			chr16	TogoVar
NPIPB12_chr16_29478534_29511408	29485334	G G	GCTGAGGG others(245): Show GCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATT ATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCT CGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGC AGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGA GGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCAT CCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01981.hp2 HG01981.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0017 a0010c0012t0002g0017	1	21	0.0476	252	c.114 others(261): Show c.1141_1142insTGGATGATAATCTCAAGACACCTTCCGAGCGTCAGC TCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAG ACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAA TCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTC CACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGG CCGCTTCCACCCTCAG	p.Ser others(265): Show p.Ser380_Ala381insValAspAspAsnLeuLysThrProSerGluAr gGlnLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnI leLysThrProAlaGluArgLeuArgGlyProLeuProProSerAlaAsp AspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProProSe rAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuA rgGlyProLeuProProSer	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	1804/3605	1141/2787	381/928			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30223419	G G	GGCTGAGG others(245): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp1 HG02015.hp1	a0034 a0034	a0034c0048 a0034c0048	a0034c0048t0007 a0034c0048t0007	a0034c0048t0007g0026 a0034c0048t0007g0026	1	145	0.0069	252	c.302 others(261): Show c.3026_3027insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAAT CTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGC	p.Ala others(267): Show p.Ala1009_Asp1010insAspAspAsnLeuLysThrProSerGluArg GlnLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIl eLysThrProAlaGluArgLeuArgGlyProLeuProProSerAlaAspA spAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProProSer AlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuAr gGlyProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5769/6292	3026/3417	1009/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224705	A A	AGGCAGGT others(245): Show AGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp2 HG00544.hp2	a0031 a0031	a0031c0043 a0031c0043	a0031c0043t0001 a0031c0043t0001	a0031c0043t0001g0080 a0031c0043t0001g0080	1	145	0.0069	252	c.148 others(261): Show c.1489_1740dupGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGC GGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAG CGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAA TATCAAGACACCTGCC	p.Ala others(265): Show p.Ala580_Phe581insGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProP roSerAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArg LeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrProSe rGluArgGlnLeuThrProLeuProProSerAlaProProSerAlaAspA spAsnIleLysThrProAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4483/6292	1740/3417	580/1138			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(245): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATA TCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01496.hp2 HG02602.hp2 NA19082.hp2 HG01496.hp2 HG02602.hp2 NA19082.hp2	a0018 a0019 a0030 a0018 a0019 a0030	a0018c0004 a0019c0005 a0030c0023 a0018c0004 a0019c0005 a0030c0023	a0018c0004t0011 a0019c0005t0001 a0030c0023t0012 a0018c0004t0011 a0019c0005t0001 a0030c0023t0012	a0018c0004t0011g0019 a0019c0005t0001g0016 a0030c0023t0012g0010 a0018c0004t0011g0019 a0019c0005t0001g0016 a0030c0023t0012g0010	3	47	0.0638	252	c.157 others(261): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAAT ATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGA TGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCT CAGCTCCACCCTCAGC	p.Ala others(265): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrAlaLeuProProSerAlaAspAsp AsnIleLysThrProAlaGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProP roSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRAP_chr10_113583714_113669041	113647645	C C	CCCCCAGT others(245): Show CCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTGGTACT GCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGG TACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCG GTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCC CCCCGGTGGTACTGCCTCCCCCGGTGGTACTGCCTCCCCCGGTGGTACTG TCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01106.hp2 others(22): Show HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG02015.hp2 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02523.hp1 HG02698.hp1 HG03453.hp1 HG03669.hp2 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18954.hp1 NA18989.hp2 NA19003.hp2 NA19007.hp1 NA19057.hp2 NA19064.hp1 NA19078.hp1 homoSapiens_chm13v2.hp1	a0011 a0012 a0014 others(3): Show a0011 a0012 a0014 a0015 a0058 a0064	a0011c0016 a0012c0011 a0014c0094 others(3): Show a0011c0016 a0012c0011 a0014c0094 a0015c0012 a0058c0092 a0064c0093	a0011c0016t0004 a0012c0011t0003 a0014c0094t0003 others(3): Show a0011c0016t0004 a0012c0011t0003 a0014c0094t0003 a0015c0012t0004 a0058c0092t0003 a0064c0093t0004	a0011c0016t0004g0280 a0011c0016t0004g0294 a0011c0016t0004g0297 others(19): Show a0011c0016t0004g0280 a0011c0016t0004g0294 a0011c0016t0004g0297 a0011c0016t0004g0298 a0012c0011t0003g0007 a0012c0011t0003g0272 a0012c0011t0003g0282 a0012c0011t0003g0283 a0012c0011t0003g0285 a0012c0011t0003g0287 a0012c0011t0003g0289 a0012c0011t0003g0290 a0012c0011t0003g0292 a0014c0094t0003g0288 a0015c0012t0004g0003 a0015c0012t0004g0284 a0015c0012t0004g0286 a0015c0012t0004g0293 a0015c0012t0004g0295 a0015c0012t0004g0296 a0058c0092t0003g0291 a0064c0093t0004g0281	25	398	0.0628	252	c.889 others(267): Show c.889-619_889-618insAGACAGTACCACCGGGGGAGGCAGTACCAC CGGGGGAGGCAGTACCACCGGGGGGAGACAGTACCACTAGGGGAGGAAGT ACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAGG AAGTACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGG GAGGAAGTACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACT GGGGGAGGCAGTACCACTGGGG		NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41						chr10	TogoVar
OR2T12_chr1_248285139_248308424	248306916	G G	GCCTGAGG others(245): Show GCCTGAGGACTGGATACCCCTGAGGACTGGAGCCCCCTGAGGACTGGAAC CCCCTGAGGACTGGAGCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGA GCCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGG AACCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTG GAGCCGCGGATTGGAGCCACCTGAGGACTGGAGCTGCCTGAGGACTGGAG CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	406	0.0025	252	c.-37 others(263): Show c.-3761_-3760insGGGCTCCAGTCCTCAGGCAGCTCCAGTCCTCAGG TGGCTCCAATCCGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGG CTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGG GCTCCAGTCCTCAGGGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAGG GGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGGTATCCAGTCCTCAGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3493		chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(245): Show TTATATTATATATATTATATATATTATATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATTATATATATTATATATAATATATATT ATATATAATATATATAATATATATTATATATATTATATATTATATATAAT ATATATTATATATATTATATATATTATATATAATATATATAATATATATT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	252	c.-23 others(263): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATAATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TAATATATATTATATATAATATATATTATATATATTATATATATAATATA TATAATATATATAATATA		OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding					2357		chr11	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(245): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CGT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	330	0.0030	252	c.436 others(267): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGG		OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28						chr2	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(245): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	330	0.0030	252	c.436 others(267): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GGTGGGGAAGGAGGTGGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGG		OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28						chr2	TogoVar
OTOF_chr2_26452203_26483124	26476510	A A	ACCTCCTT others(245): Show ACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTT CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCC CAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	330	0.0030	252	c.436 others(267): Show c.436-194_436-193insGTGGGGGAAGGGGTGGGGAAGGACGTGGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGG		OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28						chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(245): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	284	0.0035	252	c.267 others(269): Show c.2677-173_2677-172insACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGGGTGGGGAAGGAGGTGGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGAAGG		OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46						chr2	TogoVar
OTOG_chr11_17542259_17651044	17552533	C C	CCACCTGT others(245): Show CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp2 HG02647.hp2 NA20129.hp2	a0098 a0103 a0098 a0103	a0098c0079 a0103c0082 a0098c0079 a0103c0082	a0098c0079t0001 a0103c0082t0002 a0098c0079t0001 a0103c0082t0002	a0098c0079t0001g0047 a0103c0082t0002g0059 a0098c0079t0001g0047 a0103c0082t0002g0059	2	268	0.0075	252	c.292 others(267): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
P4HA3_chr11_74261657_74316640	74270504	T T	TTTTTTTT others(245): Show TTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCA TTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGAGCCCGCCACC GCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	398	0.0025	252	c.139 others(269): Show c.1399-785_1399-784insGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGC TACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCC AGACGCTGTCTCAAAAAAAAAAAA		P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding	10/12						chr11	TogoVar
PAK2_chr3_196734857_196837647	196811210	C C	CCCTTCCT others(245): Show CCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCC CTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0057 a0001c0004t0019g0057	1	178	0.0056	252	c.773 others(267): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCCTTCCCTCCCTTCCTTCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344609	A A	AGAGGAGG others(245): Show AGAGGAGGGGGTTCCGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTC CGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGA GGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01361.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG01361.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0182 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0182	5	367	0.0136	252	c.4-1 others(265): Show c.4-1319_4-1318insCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATC CCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACAC AGTCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTC TCTCACGGAACCCCCTCCTC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(245): Show CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	292	0.0034	252	c.471 others(267): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCCCCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(245): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGC CCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACC CACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	292	0.0034	252	c.471 others(267): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACG GACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(245): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	252	c.-26 others(263): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(245): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	436	0.0023	252	c.-26 others(263): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(245): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	436	0.0023	252	c.-26 others(263): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(245): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG03927.hp2 HG00673.hp2 HG02015.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	436	0.0069	252	c.-26 others(263): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2214		chr20	TogoVar
PCGF3_chr4_700832_775089	725678	C C	CGCTGTGG others(245): Show CGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGG CTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGG GCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGA GGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCT GTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTC TGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	366	0.0027	252	c.-18 others(271): Show c.-189-4911_-189-4910insCGCTGTGGCTGTGTGGGCTGCCGAGG GCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGT GGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTG CGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGG CTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGTGCTGTGGCTGTGTGG GCTGCCGAGGGCTGCTGTGGGCTCTG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101311811	C C	CCCCTCAC others(245): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0311 a0003c0023t0001g0311	1	336	0.0030	252	c.269 others(271): Show c.2699+1564_2699+1565insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(245): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCCTCCCCCCTCCCCACTCCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0015 a0015	a0015c0040 a0015c0040	a0015c0040t0003 a0015c0040t0003	a0015c0040t0003g0101 a0015c0040t0003g0101	1	336	0.0030	252	c.-37 others(263): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGGAGGGGGGAGTGGGG AGGGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAG GGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PDCD6_chr5_266646_319974	309566	T T	TGTCCCCG others(245): Show TGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAT GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTC CCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	360	0.0028	252	c.368 others(269): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCAC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309579	C C	CCCAGTGA others(245): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGC ACA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19012.hp1 NA19056.hp2 others(2): Show NA18980.hp2 NA19012.hp1 NA19056.hp2 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0087 a0001c0002t0001g0104 a0001c0002t0001g0002 a0001c0002t0001g0087 a0001c0002t0001g0104	5	360	0.0139	252	c.368 others(269): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCAC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309615	T T	TGGCCGCC others(245): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGC CGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGT GAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	360	0.0028	252	c.368 others(269): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCAC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318239	A A	ACCCTGCA others(245): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	360	0.0028	252	c.37 others(263): Show c.3724_*3725insCCCTGCACCTCCCCCATCCTTCACCTCCCCCCTC CCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3266		chr5	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(245): Show CATATATGTACATGTATATGTGCGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGCGCACATATATATGTACATGTA TATGTGCGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	24	0.0417	252	c.628 others(269): Show c.6284-837_6284-836insCGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGCGCACATATATATGTACATGTA TATGTGCGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CATATATATGTACATGTATATGTG		PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr1	TogoVar

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