Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MXRA5_chrX_3303565_3351652	3326182	T T	TTTATAAT others(192): Show TTTATAATTATAAATTATAAATTATAATATATAATTTATATATTATAAAT TTATAATATATAATTTATATATTATAATTTATAATATATAATTTATAATT ATAAGTTATATATTATAATTTTTAATTATAAGTTATAATATATAACTTAT AATTATAAGTTATAATATATAACTTATAATTATAAGTTATAATATATAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG03453.hp1 others(1): Show HG02258.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0011 a0002c0002 a0006c0011	a0002c0002t0001 a0006c0011t0002 a0002c0002t0001 a0006c0011t0002	a0002c0002t0001g0006 a0006c0011t0002g0120 a0002c0002t0001g0006 a0006c0011t0002g0120	4	280	0.0143	199	c.710 others(216): Show c.710-1208_710-1207insGTTATATATTATAACTTATAATTATAAG TTATATATTATAACTTATAATTATAAGTTATATATTATAACTTATAATTA AAAATTATAATATATAACTTATAATTATAAATTATATATTATAAATTATA ATATATAAATTATATATTATAAATTTATAATATATAAATTATATATTATA ATTTATAATTTATAATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(192): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATAATATATATTATATATATAATATATAATATA TAATATATATTATTATATATAATATATATTATATATATAATATATATTAT ATATAATATATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	50	0.0200	199	c.547 others(216): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATAATATAT ATTATATATATTATATATTATATATATAATATATATTATATATATTATAT ATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYNN_chr3_169768396_169794716	169771253	A A	ATTTATAT others(192): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATAAATAT AAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATC ATAAATATAAAAAATTATGTTTATATATCATAAATATATAAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	285	0.0035	199	c.-22 others(210): Show c.-2241_-2240insTTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAA TTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAAT ATATAAAAATTTATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2142		chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667782	C C	CTTACCGA others(192): Show CTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCTACCCTGTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	375	0.0027	199	c.148 others(218): Show c.1480-3033_1480-3032insAGGGTGGAGGGCCACAGGGTAGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGGGTCGGTAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(192): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAAATATAAATTATG TATATATAAATATATATACATAAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp1 NA18945.hp2 others(2): Show HG03098.hp2 NA18522.hp1 NA18945.hp2 NA18975.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0023 a0001c0001t0090 others(2): Show a0001c0001t0006 a0001c0001t0023 a0001c0001t0090 a0001c0001t0135 a0001c0001t0182	a0001c0001t0006g0228 a0001c0001t0023g0104 a0001c0001t0090g0275 others(2): Show a0001c0001t0006g0228 a0001c0001t0023g0104 a0001c0001t0090g0275 a0001c0001t0135g0277 a0001c0001t0182g0331	5	28	0.1786	199	c.308 others(214): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAAATATAAATTATGTATATATAAATATATATACATAAATATAAATTAT GTATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241807271	G G	GCCCAGGG others(192): Show GCCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	273	0.0037	199	c.-20 others(210): Show c.-2007_-2006insCCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAG GCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1921		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(192): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCC TCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTG CAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	282	0.0035	199	c.-13 others(210): Show c.-1347_-1346insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACTCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGG GATGTCTGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(192): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCA CCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCAC CCCCACCCTCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01074.hp1 others(1): Show HG00741.hp2 HG01071.hp1 HG01074.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0016	a0001c0001t0002g0100 a0001c0001t0005g0095 a0001c0001t0007g0064 others(1): Show a0001c0001t0002g0100 a0001c0001t0005g0095 a0001c0001t0007g0064 a0001c0002t0016g0026	4	36	0.1111	199	c.133 others(220): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGT GGGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGG TGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(192): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACTGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	118	0.0085	199	c.-75 others(218): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTAT ACGGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATA CATACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGT ATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995533	C C	CTGTATAT others(192): Show CTGTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACT GTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTAT ATACAGTATGTATACTATATACAGTATGTATACTATATACAGTATGTATA CTATATATATACAGTATGTATACTATATATATACAGTATGTATACTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0037 a0001c0003t0005g0037	1	84	0.0119	199	c.-75 others(218): Show c.-75+17534_-75+17535insATATAGTATACATACTGTATATATAT AGTATACATACTGTATATATATAGTATACATACTGTATATAGTATACATA CTGTATATAGTATACATACTGTATATAGTATACATACTGTATATATATAC AGTATACATACTGTATATATATACAGTATACATACTGTATATATATACAG TATACATACTGTATATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(192): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0080 a0002c0015t0001g0080	1	250	0.0040	199	c.319 others(214): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTTTCTGTCTTTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(192): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0174 a0002c0005t0001g0174	1	250	0.0040	199	c.319 others(214): Show c.319+282_319+283insCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(192): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0089 a0002c0005t0001g0089	1	250	0.0040	199	c.319 others(214): Show c.319+282_319+283insCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTTTCTGTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTT CTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(192): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0110 a0002c0007t0001g0110	1	393	0.0025	199	c.319 others(214): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCT TTCTTTCTTTCTGTCTTTC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849894	C C	CTGCGGTG others(192): Show CTGCGGTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGA CTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19091.hp1 NA18950.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0080 a0002c0003t0001g0081	2	416	0.0048	199	c.-65 others(216): Show c.-65-2122_-65-2121insTGCGGTGTAATTTCCGAGGCTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGAG others(192): Show TGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0387 a0002c0003t0011g0387	1	392	0.0026	199	c.-65 others(214): Show c.-65-490_-65-489insGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGAGG others(192): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0197	1	302	0.0033	199	c.140 others(216): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(192): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	30	0.0333	199	c.433 others(216): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAAGAGA AGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808552	A A	ATAGTTAT others(192): Show ATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATAT AGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATAT AGTTATGTAACTATAAAATATATAGTTATGTAACTATAAAATATATAGTT ATGTAACTATAAAATATATAGTTATGTAACTATATAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01255.hp1 HG01069.hp2 HG01167.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0050 a0001c0002t0010g0051 a0001c0002t0010g0052 a0001c0002t0010g0050 a0001c0002t0010g0051 a0001c0002t0010g0052	3	375	0.0080	199	c.489 others(216): Show c.489+2922_489+2923insGTTATATAACTATATAAAATATATAGTT ATATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAACT ATATAAATATATAGTTATGTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ODF3_chr11_191761_205258	196510	C C	CTGGTGAG others(192): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGG AGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGG GTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(60): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03688.hp1 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19077.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0010 a0001c0001 a0004c0006 a0006c0010	a0001c0001t0001 a0001c0001t0007 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0004c0006t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0007g0001 a0004c0006t0001g0009 a0006c0010t0001g0001	63	348	0.1810	199	c.-54 others(208): Show c.-545_-544insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGG GACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGT GAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGAC ATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		250		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64094364	T T	TGGGGGCA others(192): Show TGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTG TGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGG GTCAGTGTGGGGTCAGTGTGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAG TGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(5): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0005t0006	a0001c0001t0003g0002 a0001c0001t0003g0042 a0001c0001t0006g0004 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0042 a0001c0001t0006g0004 a0001c0001t0020g0020 a0001c0005t0006g0013	8	46	0.1739	199	c.233 others(216): Show c.233+1423_233+1424insTGGGTCAGTGTGCGGGCAGTGTGTGGGG GGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGTC AGTGTGGGGGTCAGTGTGGGGTCAGTGTGGGGGCAGTGTGGGGGTCAGTG TGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGG GGCAGTGTGGGGGGCAGTGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237762	C C	CTATATAG others(192): Show CTATATAGTACATATAGTATATATAGTATATATAGTATATAGTACATATA GTATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAGT ATATATACTATATAGTATATATTATATAGAGTATATACTATAAAGTACAT AATTTATATATTACATATAATACATAATATATATTTATATATTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	368	0.0027	199	c.-15 others(210): Show c.-1581_-1580insTATATAGTACATATAGTATATATAGTATATATAG TATATAGTACATATAGTATATATAGTATATATAGTATATAGTATATATTT TATAGTATATATAGTATATATACTATATAGTATATATTATATAGAGTATA TACTATAAAGTACATAATTTATATATTACATATAATACATAATATATATT TATATATTATATTAA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1523		chr14	TogoVar
OR2T12_chr1_248285139_248308424	248306763	G G	GCCTGAGG others(192): Show GCCTGAGGATGATGGAGCCGCCTGAGGACTGGATACCCTGAGGACTGGAG ACCCCTGAGGACTGGAGCCGCCTGAGGACTGGACCTGAGACTGGAGCCCC TGAGGACTGGAGCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAACCCCC TGAGGACTGGAGCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0006 a0001c0008t0001g0006	1	359	0.0028	199	c.-36 others(210): Show c.-3608_-3607insGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAG GGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGCTCCAGTCCTCAGGGGCTCCAGTCTCAGGTCCAGTCCTCAGGCGGC TCCAGTCCTCAGGGGTCTCCAGTCCTCAGGGTATCCAGTCCTCAGGCGGC TCCATCATCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3340		chr1	TogoVar
OR5AN1_chr11_59353895_59376714	59356682	A A	AGAGGGGA others(192): Show AGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGGGAAGGGGAGGGGACG GAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGGGG AGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGAAGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	138	0.0072	199	c.-26 others(210): Show c.-2604_-2603insGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGG GAAGGGGAGGGGACGGAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGA AGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGAAGGGAAGGGGAG GGGAGGGGGGGAGGG	OR5AN1	ENSG00000176495.3	transcript	ENST00000641998.1	protein_coding		2212		chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(192): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGAGAGACGAGGAGGTGGGGGGGGGGAGGGGGGAGAGGGAGGAAG GGGTTAGGGGAAGAGGGAGAGGAGAGAGGGGGAGTAAAGGGGAGGGGGGG AGAGAGAGACGGGGGGAGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0029 a0001c0002t0006g0184 a0001c0001t0001g0029 a0001c0002t0006g0184	2	3	0.6667	199	c.537 others(218): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCCCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCTCCCCCCC CCCACCTCCTCGTCTCTCCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCC CTCTCCCCCACCTCCTTGTCTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCCCCGCC others(192): Show CCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGAC CCTCCCAGCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAG GAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAG CCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	331	0.0030	199	c.981 others(216): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGTCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCCCT GGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGGGG AGAGCCGGGGGACGCTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTC CTGTTCTCAGGCTGGGCGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(192): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp1 HG02818.hp2 others(4): Show HG01106.hp2 HG02723.hp1 HG02818.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0048 a0001c0004t0010 a0001c0004t0030 others(1): Show a0001c0001t0048 a0001c0004t0010 a0001c0004t0030 a0001c0004t0045	a0001c0001t0048g0227 a0001c0004t0010g0204 a0001c0004t0010g0287 others(4): Show a0001c0001t0048g0227 a0001c0004t0010g0204 a0001c0004t0010g0287 a0001c0004t0010g0290 a0001c0004t0010g0294 a0001c0004t0030g0224 a0001c0004t0045g0272	7	74	0.0946	199	c.226 others(218): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562915	G G	GGCGGGGG others(192): Show GGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGG GGCGGCGGGGGGCGGGGGGGCGGGGGGGCGGCGGGGGGCGGGGGGGCGGG GGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGGGGCGG GGGGGGGCGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0195 a0001c0005t0002g0195	1	200	0.0050	199	c.-95 others(208): Show c.-952_-951insGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGC AGCTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGGGCGGCGGGGG GCGGGGGGGCGGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGG CGGGGGGGGGCGGGGGGGGGCGGGGGCGGGGGGCGGGGGGGGCGGGGGCG GGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		759		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562916	C C	CGGGGGGT others(192): Show CGGGGGGTCGGTGGTCCGGGCGGGGGGCGGGGGGGCAGCTGGGGCGGGGG GCGGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGGCGGGG GGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGG GGCGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGCGGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0187 a0001c0002t0004g0187	1	137	0.0073	199	c.-95 others(208): Show c.-951_-950insGGGGGGTCGGTGGTCCGGGCGGGGGGCGGGGGGGCA GCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGC GGGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGG GGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGCGG GGGGCGGGGGGCG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		758		chrX	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(192): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCC ACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	177	0.0056	199	c.471 others(214): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGC CCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924976	G G	GTAGAAAC others(192): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	203	0.0049	199	c.718 others(216): Show c.718-4893_718-4892insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE6B_chr4_620573_675782	660984	A A	AATGGATG others(192): Show AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGTTGGATAAAT GGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATAAATTGAT GGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGGATAAATGGA TGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02895.hp2 HG02559.hp2 HG02809.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0001 a0001c0029t0001 a0001c0002t0001 a0001c0029t0001	a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0029t0001g0033 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0029t0001g0033	3	306	0.0098	199	c.161 others(216): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG GTTGGATAAATGGATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAAGAA others(192): Show CAAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	202	0.0050	199	c.20- others(214): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT TTCTTTCTTTCTTTCTTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(192): Show GGGGGGCTGGCGGGGGCCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGG GCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	282	0.0035	199	c.143 others(214): Show c.143-267_143-266insCTGGCGGGGGCCTCGCGGGGGGCTGGCGGG GGCCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(192): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACGC GCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0184 a0001c0001t0012g0184	1	131	0.0076	199	c.67 others(210): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGAGAGGCACTGCTGAACCCTGGC ACCGCGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGC ACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(192): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	131	0.0076	199	c.67 others(210): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCGGATGGAGGAGATGCACTGCTGAACCCTGGC ACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCT others(192): Show CCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0076 a0003c0003t0002g0076	1	163	0.0061	199	c.200 others(218): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(192): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03239.hp2 HG04228.hp1 HG02683.hp2 HG03239.hp2 HG04228.hp1	a0004 a0025 a0038 a0004 a0025 a0038	a0004c0006 a0025c0050 a0038c0042 a0004c0006 a0025c0050 a0038c0042	a0004c0006t0003 a0025c0050t0001 a0038c0042t0002 a0004c0006t0003 a0025c0050t0001 a0038c0042t0002	a0004c0006t0003g0039 a0025c0050t0001g0023 a0038c0042t0002g0050 a0004c0006t0003g0039 a0025c0050t0001g0023 a0038c0042t0002g0050	3	84	0.0357	199	c.575 others(220): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTT GGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PRIM2_chr6_57312630_57651850	57354256	T T	TAAAAAAT others(192): Show TAAAAAATGCGATTTGATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCGCCT GGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	298	0.0034	199	c.460 others(218): Show c.460-25629_460-25628insTACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATGCGATTTGA	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(192): Show TCTCCCTTCCCCCTTCCCTTCTCCCTCCCTTCCCCTCCCCTTCCTCTCTC TTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCC CCCTTCCCTTCTCCTTCCCTTCTCCCTTCCCCCCTTCCCTTCTCCCTTCC CTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	82	0.0122	199	c.845 others(216): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTCCCT TCCCCTCCCCTTCCTCTCTCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCC TCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCTTCCCTTCTCCCTTCC CCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCC TTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCA_chr17_66297613_66815743	66799514	G G	GTGGTGGT others(192): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	165	0.0061	199	c.185 others(218): Show c.1855-4358_1855-4357insGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGGTGGTG GTGATGGTGGTGGTGGTGGTGAT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122986	G G	GCTGTAGT others(192): Show GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	225	0.0044	199	c.335 others(218): Show c.335-12276_335-12275insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGG TGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACG GCTGTAGTTAGGGTCATGGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PTPN9_chr15_75458251_75584315	75503593	T T	TGGGGGCG others(192): Show TGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	316	0.0032	199	c.968 others(216): Show c.968+2081_968+2082insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGCGGGCTGACCGCCCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(192): Show GTATATTATATATTTTATATATAATATATTTTGTATATTATATATTTTAT ATATAATATATTTTGTATATTATATATTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG03490.hp2 others(4): Show HG00597.hp1 HG02027.hp2 HG03490.hp2 HG03942.hp1 NA18612.hp1 NA18949.hp2 NA18974.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0001 a0001c0001t0001 a0006c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0085 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0105 a0006c0013t0001g0091	7	68	0.1029	199	c.-12 others(220): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA TATATTTTATATATAATATATTTTGTATATTATATATTTTATATATAATA TATTTTGTATATTATATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRE_chr10_127902103_128090855	127929902	T T	TAAAAATT others(192): Show TAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0108 a0001c0001t0024g0108	1	302	0.0033	199	c.-31 others(218): Show c.-31+22601_-31+22602insGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGAC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATTA	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(192): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAGGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTGAGACGGAATCTCACTCTGTTGCCCAGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	137	0.0073	199	c.127 others(218): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCCGTC TCAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCCTTG AGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTTTTC CCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAATTA GTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(192): Show TTAGATATATATATTATTATATATATTAGATATATATATTATTATATATA TCTATTAGATATATATATTATTATATATATCTAATAGATATATATATTAT TATATATATCTAATAGATATATATATTATTATATATATCTAATAGATATA TATATTATTATATATATCTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19009.hp1 NA18994.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0200 a0001c0001t0002g0040 a0001c0001t0002g0200	2	223	0.0090	199	c.38- others(214): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTAATATAT ATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QRFPR_chr4_121323642_121386018	121365511	T T	TAATATAT others(192): Show TAATATATATAATATATATTATATATATATAATATATATATTATATATAA TATATATTATATATATATAATATATATATTATATATTATATATATTATAT ATATAATATATAATATATTATATATTATATATAATATATAATATATAATA TATTATATATATTATATATAATATATAATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0189 a0001c0001t0024g0189	1	343	0.0029	199	c.340 others(218): Show c.340+14796_340+14797insTATATATAATATATATAATATATTAT ATATTATATATAATATATATAATATATTATATATTATATATTATATATAA TATATAATATATTATATATTATATATATAATATATATAATATATAATATA TATATTATATATATATAATATATATTATATATAATATATATATTATATAT ATATAATATATATTATATATATT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(192): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAG ACCGGGGGGAAGGGAGACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAA CTGGGGGGGGCCGGGAAACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0017 a0001c0005t0001g0017	1	22	0.0455	199	c.173 others(216): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCC CCGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCA GTCTCCCACCCCCCAGTCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTC TCCTGGCCCCCTGAGTCTCCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114133851	C C	CAGTCCCC others(192): Show CAGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCCCAAGTCCCCT TGCAGACCCCGGCATGGGCAGGTCCCCCCCCAAGTCCCCTTGCAGACCCC GGCATGGGCAGGTCCCCCCCCAAGTCCCCCTGCAGACCCCGGCATGGGCA GGTCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	54	0.0185	199	c.-13 others(210): Show c.-1363_-1362insAGGGGGGGACCTGCTCATGCCGGGGTCTGCAGGG GGACTGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTTGGGGG GGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGACCTGCC CATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGGACCTGCTCATGCCGGG GTCTGCAGGGGGACT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		1229		chr13	TogoVar

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