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
RBM33_chr7_155639661_155786480	155673584	A A	ATATATAT others(215): Show ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTGTATAT ATATACACGCATATACATACACACGTGTATATATATACACGCATATACAT ACACACGTGTATATATATACACGCATATACATACACACGTGTATATATAT ACACGCATATACATACACACGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02145.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0050 a0001c0003t0046 a0001c0003t0050	a0001c0003t0046g0254 a0001c0003t0050g0253 a0001c0003t0046g0254 a0001c0003t0050g0253	2	306	0.0065	222	c.171 others(237): Show c.171+677_171+678insCACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RER1_chr1_2386841_2410436	2401360	C C	CTCCCTCC others(215): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCC TCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCT CCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19085.hp2 NA18990.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0006 a0001c0001t0022g0006 a0001c0001t0005g0006 a0001c0001t0022g0006	2	354	0.0057	222	c.365 others(237): Show c.365+428_365+429insCTCCCTCCTCCTCCCTCCTCCTCCCTCCTT CCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCC CCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCC TCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGSL1_chr1_182445146_182565597	182465082	A A	AATAATAA others(215): Show AATAATAATAATATTATATTATTTTTATATATTTTATATATATATATATA TATTTAATTTTATATATATATTATTTTTATATATATATATATTATTATAT ATATAATATAATAATATTATATTATAATAATAATATTTATATATTTTATA TATATATAATTTTATATATATATTATTTTTATATATATATATTATTATAT ATATAATATAATAATATTATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	338	0.0030	222	c.301 others(239): Show c.301+4961_301+4962insTTATATTATTTTTATATATTTTATATAT ATATATATATATTTAATTTTATATATATATTATTTTTATATATATATATA TTATTATATATATAATATAATAATATTATATTATAATAATAATATTTATA TATTTTATATATATATAATTTTATATATATATTATTTTTATATATATATA TTATTATATATATAATATAATAATATTATATTATAATAATAATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(215): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18952.hp1 HG00621.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0015 a0001c0001t0001g0019	2	280	0.0071	222	c.3+2 others(237): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(215): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA19088.hp1 HG01934.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0008 a0001c0001t0012g0012 a0001c0001t0011g0008 a0001c0001t0012g0012	2	396	0.0051	222	c.-76 others(231): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(215): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02293.hp2 HG03239.hp1 others(5): Show HG01070.hp1 HG02293.hp2 HG03239.hp1 HG03491.hp1 NA18941.hp2 NA18959.hp1 NA19056.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0148 a0001c0001t0003g0006 a0001c0001t0003g0124 a0001c0001t0005g0188	8	396	0.0202	222	c.-76 others(231): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(215): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03654.hp2 NA18947.hp1 others(3): Show HG02132.hp1 HG03654.hp2 NA18947.hp1 NA18975.hp1 NA19007.hp2 NA19010.hp2	a0002 a0092 a0002 a0092	a0002c0002 a0002c0010 a0002c0058 others(2): Show a0002c0002 a0002c0010 a0002c0058 a0002c0121 a0092c0122	a0002c0002t0003 a0002c0002t0047 a0002c0010t0004 others(3): Show a0002c0002t0003 a0002c0002t0047 a0002c0010t0004 a0002c0058t0004 a0002c0121t0004 a0092c0122t0004	a0002c0002t0003g0111 a0002c0002t0047g0149 a0002c0010t0004g0077 others(3): Show a0002c0002t0003g0111 a0002c0002t0047g0149 a0002c0010t0004g0077 a0002c0058t0004g0219 a0002c0121t0004g0067 a0092c0122t0004g0075	6	292	0.0206	222	c.108 others(241): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(215): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAC GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0100 a0002c0010t0003g0100	1	292	0.0034	222	c.108 others(241): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	242678	A A	ACCTTCCT others(215): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	222	c.613 others(239): Show c.613+4432_613+4433insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAA TAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242678	A A	ACCTTCCT others(215): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	133	0.0075	222	c.613 others(239): Show c.613+4432_613+4433insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAA TAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242693	T T	TTACCTTC others(215): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG02071.hp1 HG00140.hp1 HG01258.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0001t0001 a0001c0001t0002 a0001c0002t0007	a0001c0001t0001g0040 a0001c0001t0002g0116 a0001c0002t0007g0112 a0001c0001t0001g0040 a0001c0001t0002g0116 a0001c0002t0007g0112	3	133	0.0226	222	c.613 others(239): Show c.613+4417_613+4418insGTCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(215): Show AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGG GCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	133	0.0075	222	c.351 others(241): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(215): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0134 a0003c0003t0034g0134	1	366	0.0027	222	c.-15 others(233): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RTEL1_chr20_63653312_63701245	63693462	T T	TTCACCAC others(215): Show TTCACCACCACCACCTCCACCTCCACCACCACCACCACCACCTCCACCTC CACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTCCA CCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCACCTCCACCTCC ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCCAC CTCCACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	60	0.0167	222	c.299 others(239): Show c.2992+179_2992+180insTCACCACCACCACCTCCACCTCCACCAC CACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCA CCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACC ACCTCCACCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTC CACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCA	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(215): Show TATATCTATAATATATAATATATCTATAATATATATATTATATATATAAT ATATAATATATTATATATATAATATATAATATATTATATATATAATATAT AATATATTATATCTATAATATATTATATGTAATATATATATGTTATATCT ATAATATATATTATATCTATAATATATAATATATTATATCTATAATATAT AATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG04228.hp1 HG01981.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0022	2	172	0.0116	222	c.242 others(239): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATTATATATTAT ATATATAATATATATATTATAGATATATTATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SARDH_chr9_133658560_133743352	133669058	T T	TCCCTCAC others(215): Show TCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTC ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTAC CCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACC TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCT CCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0224 a0002c0002t0004g0224	1	262	0.0038	222	c.249 others(241): Show c.2495+1525_2495+1526insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148428343	A A	ATCAGGCC others(215): Show ATCAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCAGGCGGATCTTAACTTGAGGTTAAGAGTTCGCGACAGCCTGGC CAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCTAGGTGTG GTGGTACACATCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGAGAAT TGCTTGAACCTGAGAGGCGGAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	322	0.0031	222	c.286 others(241): Show c.286-11839_286-11618dupCAGGCCGGGTGCGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCTTAACTTGAGGT TAAGAGTTCGCGACAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAA ATACAAAAATTAGCTAGGTGTGGTGGTACACATCTGTAATCCCAGCTACT CGGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGAGAGGCGGAGGT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTTA others(215): Show CGTATTTATACATATATGTATAAATACATACATATTTATACATATATGTA TACATACATATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACACATATTTATACATATATGTATAAATACATATACATATTTATACATA TATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0017 a0002c0002t0003g0018	2	232	0.0086	222	c.43 others(233): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATATGTGTATGTATTTATAC ATATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATAT GTATGTATTTATACATATATATGTATAAATATGTATGTATACATATATGT ATAAATATGTATGTATTTATACATATATGTATAAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(215): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	203	0.0049	222	c.167 others(237): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCGB1C1_chr11_188078_199575	194850	A A	ACAGGGCC others(215): Show ACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAA GGAGCACATGTGCGAAAGTCCACCACAGAGGGACACACAAATGGGGACAT CAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATACAGAGG ATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACAGAGGGACACACA AATGGGGACATCAGGAACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	222	c.40 others(231): Show c.400_*401insCAGGGCCACAGCCACACACACAGACCCACATACAGA GGATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACAGAGGGACACA CAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGAC CCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCAC AGAGGGACACACAAATGGGGACATCAGGAACACACT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		276		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(215): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	222	c.48 others(233): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(215): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	290	0.0035	222	c.464 others(235): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGG TGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288563	T T	TCCGTCCC others(215): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	290	0.0035	222	c.166 others(239): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCGTGTCT others(215): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	222	c.166 others(239): Show c.1662+887_1662+888insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	222	c.166 others(239): Show c.1663-643_1663-642insCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289890	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	290	0.0035	222	c.166 others(239): Show c.1663-350_1663-349insTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290072	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	290	0.0035	222	c.166 others(239): Show c.1663-104_1663-103insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(215): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATAATATA TTATTATATTATATTTACATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp2 HG02258.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0088 a0001c0003t0014g0089 a0001c0003t0014g0088 a0001c0003t0014g0089	2	276	0.0073	222	c.453 others(241): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	A A	AGACCTAG others(215): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAACCGACTCCCCGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	408	0.0025	222	c.36 others(233): Show c.3653_*3654insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCC CGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACC GACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1564		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	A A	AGACCTAG others(215): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAGCCGACTCCCCGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	408	0.0025	222	c.36 others(233): Show c.3653_*3654insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCC CGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACC GACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1564		chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(215): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGGTGGT GATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGG GGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGC GATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0067 a0001c0001t0016g0067	1	150	0.0067	222	c.913 others(239): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTG GTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGT GATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(215): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGGTGGT GATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGG GGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGC GATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	158	0.0063	222	c.859 others(239): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTG GTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGT GATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(215): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0243 a0002c0008t0001g0243	1	282	0.0036	222	c.113 others(241): Show c.113-29928_113-29927insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3GL2_chr9_17574066_17802124	17764640	T T	TTGGGAGT others(215): Show TTGGGAGTACATCTGTATTAGATTACTGCTCCCGGGTGCTTGCTGGCTTT CACATCTTGGGTACATGGACAGGCCAGGGGAATCAGTAGGATTTGATGCT TCGAGGGTACTTTGGGAGTACATCTGTATTAGATTACTGCTCCCGGGTGC TTGCTGGCTTTCACATCTTGGGTACATGGACAGGCCAGGGCAATCAGTAG GATTTGATGCTTCGAGGGTACTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(21): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00558.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01258.hp1 HG02040.hp2 HG02074.hp2 HG02683.hp1 HG02735.hp1 HG03098.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18948.hp2 NA18975.hp2 NA19010.hp2 NA19074.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0002c0005t0014	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0063 others(21): Show a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0005g0022 a0001c0001t0005g0036 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0146 a0001c0001t0005g0169 a0001c0001t0005g0171 a0001c0001t0005g0178 a0001c0001t0018g0216 a0002c0005t0014g0137	24	260	0.0923	222	c.187 others(239): Show c.187+3329_187+3330insGGATTTGATGCTTCGAGGGTACTCTGGG AGTACATCTGTATTAGATTACTGCTCCCGGGTGCTTGCTGGCTTTCACAT CTTGGGTACATGGACAGGCCAGGGGAATCAGTAGGATTTGATGCTTCGAG GGTACTTTGGGAGTACATCTGTATTAGATTACTGCTCCCGGGTGCTTGCT GGCTTTCACATCTTGGGTACATGGACAGGCCAGGGCAATCAGTA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(215): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01975.hp1 HG02074.hp1 others(1): Show HG00544.hp1 HG01975.hp1 HG02074.hp1 HG02273.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0089 a0003c0005t0001g0016	4	242	0.0165	222	c.39 others(233): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG CCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCG GGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGT GAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77703973	A A	AAGTGTAT others(215): Show AAGTGTATATATACACATATAAAATATATATACATATGTTTTATAAGTGT ATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02897.hp2 others(2): Show HG02257.hp1 HG02559.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0069 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0003t0001g0070 a0001c0003t0001g0071	5	300	0.0167	222	c.626 others(239): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATG	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6			chr13	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(215): Show GGAGAGAGGGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGA CCGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0075 a0002c0001t0001g0075	1	188	0.0053	222	c.80 others(233): Show c.8066_*8067insTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCC CTCTCTCCACGGTCTCTCTCTCCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79920732	C C	CGGAACCA others(215): Show CGGAACCAAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGA GAGGTCAAGGTCAGTGAGGAGAGACGGAACCAAGTGAGAGGTCAAGCTCA GTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCAAGTGAG AGGTCAAGGTCAGTGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0297 a0001c0001t0011g0297	1	352	0.0028	222	c.392 others(239): Show c.392-1333_392-1332insTCTCTCCCCACTGACCTTGACCTCTCAC TTGGTTCCATCTCTCCCCACTGAGCTTGACCTCTCCCTCGGTTCCTGTCT CTCCTCACTGACCTTGACCTCTCACTCGGTTCCATCTCTCCCCACTGAGC TTGACCTCTCACTTGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCACT CGGTTCCATCTCTCCCCACTGAGCTTGACCTCTCACTTGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920993	A A	AGAGACGG others(215): Show AGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAGGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCA GGGTCAGTGGGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGGGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACC GAGGGAGAGGTCAAGCTCAGTGG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	352	0.0028	222	c.392 others(239): Show c.392-1594_392-1593insCCACTGAGCTTGACCTCTCCCTCGGTTC CGTCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCA CTGACCCTGACCTCTCCCTCGGTTCCCGTCTCTCCCCACTGACCCTGACC TCTCCCTCGGTTCCGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTC CTGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCGTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238235	T T	TAGGAAAG others(215): Show TAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGA GCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGAGCCTGGGGCCTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0378 a0002c0001t0001g0378	1	456	0.0022	222	c.732 others(237): Show c.732+236_732+237insAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTG GAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422479	G G	GCTGCCCA others(215): Show GCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTG CCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTG GGTACCCACCACTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGC TGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTG CCCACGCTGCTGGGTACCCACCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0009 a0001c0011t0020 a0001c0005t0009 a0001c0011t0020	a0001c0005t0009g0026 a0001c0011t0020g0025 a0001c0005t0009g0026 a0001c0011t0020g0025	2	373	0.0054	222	c.654 others(237): Show c.654-466_654-465insTGGTGGGTACCCAGCAGCGTGGGCAGCACT GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACTGTGGGCAGTGGTGGGTACCCAGCAGC GTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACT GGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(215): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTTTATATATTATATATATTA TGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18960.hp2 NA18969.hp2 others(2): Show NA18955.hp1 NA18960.hp2 NA18969.hp2 NA19070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0094 a0001c0001t0100 others(2): Show a0001c0001t0046 a0001c0001t0094 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102	a0001c0001t0046g0196 a0001c0001t0094g0004 a0001c0001t0100g0299 others(2): Show a0001c0001t0046g0196 a0001c0001t0094g0004 a0001c0001t0100g0299 a0001c0001t0101g0194 a0001c0001t0102g0193	5	310	0.0161	222	c.784 others(237): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATAATATATATAATATATATTATACATAATATA TATAATATATATAATATATATTATACATAATATATATAATATATATATAA TATATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(215): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTTTATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTATATATTATATATATTA TGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19005.hp1 NA19080.hp2 HG00423.hp2 NA19005.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0099 a0001c0001t0111 a0001c0001t0018 a0001c0001t0099 a0001c0001t0111	a0001c0001t0018g0207 a0001c0001t0099g0221 a0001c0001t0111g0205 a0001c0001t0018g0207 a0001c0001t0099g0221 a0001c0001t0111g0205	3	310	0.0097	222	c.784 others(237): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAATATATATTATACATAATATATATAATATATAAAATATA TATTATACATAATATATATAATATATAAAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATATATAA TATATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNTG2_chr2_945849_1372613	983236	T T	TGGGATGA others(215): Show TGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAG GTGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGCAG AGGCTCTCTTCCATAGAAGCTGCGGAGGTGGTGGTCAGGATGAAGAAGCT GCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATG AAGAAGTTGCAGAGGTGGAGGTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	190	0.0053	222	c.72+ others(239): Show c.72+32196_72+32197insCGGGATGAAGAAGTTGCAGAGGTGGAGG TCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGCAGAGGCTCT CTTCCATAGAAGCTGCGGAGGTGGTGGTCAGGATGAAGAAGCTGCAGAGG TGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGAAGT TGCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	983265	T T	TGGGATGA others(215): Show TGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAG GTGGAGGTCGGGATGAAGCAGAGGCTCTCTTCCATAGAAGCTGCGGAGGT GGTGGTCAGGATGAAGAAGCTGCAGAGGTGGAGGTCGGGATGAAGAAGTT GCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATG AAGAAGTTGCAGAGGTGGAGGTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG02486.hp2 others(6): Show HG01074.hp1 HG01257.hp2 HG02486.hp2 HG02559.hp1 HG03490.hp2 HG03654.hp1 HG03927.hp1 NA19000.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0003 a0003c0007 others(4): Show a0001c0001 a0002c0003 a0003c0007 a0003c0008 a0004c0004 a0004c0014 a0009c0012	a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 others(4): Show a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0004c0014t0001 a0009c0012t0001	a0001c0001t0001g0067 a0002c0003t0001g0061 a0002c0003t0001g0064 others(6): Show a0001c0001t0001g0067 a0002c0003t0001g0061 a0002c0003t0001g0064 a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0008t0001g0060 a0004c0004t0001g0065 a0004c0014t0001g0054 a0009c0012t0001g0066	9	190	0.0474	222	c.72+ others(239): Show c.72+32206_72+32207insAAGTTGCAGAGGTGGAGGTCGGGATGAA GAAGTTGCAGAGGTGGAGGTCGGGATGAAGCAGAGGCTCTCTTCCATAGA AGCTGCGGAGGTGGTGGTCAGGATGAAGAAGCTGCAGAGGTGGAGGTCGG GATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTG GAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	983265	T T	TGGGATGA others(215): Show TGGGATGAAGAAGTTGCAGAGGTGGAGGTTGGGATGAAGAAGTTGCAGAG GTGGAGGTCGGGATGAAGCAGAGGCTCTCTTCCATAGAAGCTGCGGAGGT GGTGGTCAGGATGAAGAAGCTGCAGAGGTGGAGGTCGGGATGAAGAAGTT GCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATG AAGAAGTTGCAGAGGTGGAGGTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	190	0.0053	222	c.72+ others(239): Show c.72+32206_72+32207insAAGTTGCAGAGGTGGAGGTTGGGATGAA GAAGTTGCAGAGGTGGAGGTCGGGATGAAGCAGAGGCTCTCTTCCATAGA AGCTGCGGAGGTGGTGGTCAGGATGAAGAAGCTGCAGAGGTGGAGGTCGG GATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAGAAGTTGCAGAGGTG GAGGTCGGGATGAAGAAGTTGCAGAGGTGGAGGTCGGGATGAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221767	C C	CTCTGCCT others(215): Show CTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCT CTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCT CTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGT CTCTGTCTCTCTCTGTCTCTGCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	190	0.0053	222	c.719 others(241): Show c.719+12546_719+12547insGTCTCTCTCTTTGTCCCTCTCTGTCT CTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGC CTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCA GTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(215): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATAAATATATATATATTTATATATATAAATATATATATATTT ATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	382	0.0026	222	c.159 others(239): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATAAATATATATATATTTATATATATAAATA TATATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(215): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATTTATATATATAAATATATATATATAAATATATATATATTT ATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	382	0.0026	222	c.159 others(239): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATAAATA TATATATATAAATATATATATTTATATATATAAATATATATATATAAATA TATATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(215): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTATATATAAAATATATATATTTATATATATATTTTA TATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTC CCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0116 a0003c0004t0002g0116	1	290	0.0035	222	c.172 others(239): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATAGATAGATATATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTATATATAAAATATAT ATATTTATATATATATTTTATATATATAGATATATATATCTATATATTTA TTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar

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