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
GRAMD4_chr22_46615386_46684785	46635778	G G	GCTGTATC others(177): Show GCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCG TGTCCTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTCC TCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCC TGCTCCCCACCCCTGACCACTCCTGTCCTGGGGGC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	328	0.0031	184	c.163 others(201): Show c.163-2061_163-2060insTGTATCCTCCCTGCCCCCACCCCTGGCC ACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCGCCCCCGGCCACTCC TGTCCTGGGGGACTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTC CAGGGGAGCTGTGTCCTCCCTGCTCCCCACCCCTGACCACTCCTGTCCTG GGGGCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAP2_chr22_39896084_39978721	39956636	C C	CTTTTTTT others(177): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	316	0.0032	184	c.170 others(199): Show c.170+730_170+731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTT	GRAP2	ENSG00000100351.17	transcript	ENST00000344138.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(177): Show CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACATATATA TGTACACATATATATGTACATATATATGTACACATATATATATACATATA TATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp2 HG02809.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0311 a0001c0001t0002g0312	2	418	0.0048	184	c.167 others(199): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATGTACACATATATGTACACATATATATGTACACATATATGTACACA TATATATGTACATATATATGTACACATATATATGTACATATATATGTACA CATATATATATACATATATATATACATATATATGTACACATATATATATA CATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(177): Show CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACATATATA TGTACACATATATATGTACATATATATGTACACATATATATGTACATATA TATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	418	0.0024	184	c.167 others(199): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATGTACACATATATGTACACATATATATGTACACATATATGTACACA TATATATGTACATATATATGTACACATATATATGTACATATATATGTACA CATATATATGTACATATATATATACATATATATGTACACATATATATATA CATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAC others(177): Show ACACACACATATATATTATATATATATTATATATATATATTATATATATA TTATATATATATTATATATATATATTATATATATATTATATATATATATT ATATATATATTATATATATATTATATATATATTATATATATATTATATAT ATATTATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0020 a0001c0005t0002g0020	1	184	0.0054	184	c.912 others(203): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATATAATATATATATAATATATATATATAATA TATATATAATATATATATAATATATATATATAATATATATATAATATATA TGTGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(177): Show GCCCCCCTCCGCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCTCTTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0053 a0053	a0053c0044 a0053c0044	a0053c0044t0001 a0053c0044t0001	a0053c0044t0001g0227 a0053c0044t0001g0227	1	290	0.0035	184	c.427 others(201): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTC CTCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(177): Show CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	290	0.0035	184	c.427 others(201): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653215	C C	CCTCCCCC others(177): Show CCTCCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0233 a0001c0002t0049g0233	1	290	0.0035	184	c.427 others(201): Show c.427-1062_427-1061insTCCCCCCCCCTCCCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653270	T T	TCCCCCCT others(177): Show TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCTCC TCCTCCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCTCCCCCCCTCCTC CTCCTCCCCCCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	290	0.0035	184	c.427 others(201): Show c.427-1006_427-1005insCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCC TCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCTCC TCCTCCTCCCCCCCTCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCTCCT CCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp1 HG02258.hp1 HG02040.hp2 HG02055.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0019 a0001c0001t0004 a0001c0001t0007 a0001c0002t0019	a0001c0001t0004g0064 a0001c0001t0007g0041 a0001c0002t0019g0059 a0001c0001t0004g0064 a0001c0001t0007g0041 a0001c0002t0019g0059	3	156	0.0192	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18979.hp1 HG02258.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0039 a0001c0001t0023 a0001c0001t0039	a0001c0001t0023g0100 a0001c0001t0039g0129 a0001c0001t0023g0100 a0001c0001t0039g0129	2	156	0.0128	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	156	0.0064	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 homoSapiens_chm13v2.hp1 HG02615.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0044 a0001c0001t0009 a0001c0001t0044	a0001c0001t0009g0125 a0001c0001t0044g0008 a0001c0001t0009g0125 a0001c0001t0044g0008	2	156	0.0128	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0029 a0001c0003t0021g0029	1	156	0.0064	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03831.hp2 HG02559.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0046 a0001c0001t0013 a0001c0002t0046	a0001c0001t0013g0012 a0001c0002t0046g0109 a0001c0001t0013g0012 a0001c0002t0046g0109	2	156	0.0128	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCTTCCCTCCCTCCCTCCCT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0137 a0001c0001t0020g0137	1	156	0.0064	184	c.221 others(203): Show c.2215-6727_2215-6726insTTCCTTCCTTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HIGD1C_chr12_50947544_50975607	50948867	G G	GGGAGGGG others(177): Show GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	380	0.0026	184	c.-39 others(195): Show c.-3912_-3911insGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3676		chr12	TogoVar
HSF1_chr8_144286604_144319720	144313658	C C	CCGCGCCT others(177): Show CCGCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGC CTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCACC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18980.hp1 HG01255.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0208 a0002c0002t0001g0175 a0001c0001t0001g0208 a0002c0002t0001g0175	2	330	0.0061	184	c.124 others(199): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTC CCCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(177): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	330	0.0030	184	c.124 others(199): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322215	C C	CATGGAAT others(177): Show CATGGAATATATATATATAGAATATATACATGGAATATATATATGGAATA TATACATGGAATATATATATATGGAATATATACATGGAACATATACATGG AATATATACATGGAACATATACATGGAATATATACATGGAACATATACAT GGAATATATATATATGGAACATATACGGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	323	0.0031	184	c.-28 others(195): Show c.-2841_-2840insATGGAATATATATATATAGAATATATACATGGAA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAACATATACATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATATATATGGAACATATACGGAATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2754		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322703	T T	TAATATAT others(177): Show TAATATATATACGGAATATATATATACGGAATATATATATAATATATATA CGGAATATATATATACGGAATATATATATAATATATATACGGAATATATA TATACGGAATATATATATAATATATATACGGAATATATACATACGGAATA TATATATAATATATATACGGAATATATACATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03225.hp1 HG02970.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0031 a0003c0003t0009 a0003c0003t0031	a0003c0003t0009g0116 a0003c0003t0031g0109 a0003c0003t0009g0116 a0003c0003t0031g0109	2	323	0.0062	184	c.-23 others(195): Show c.-2353_-2352insAATATATATACGGAATATATATATACGGAATATA TATATAATATATATACGGAATATATATATACGGAATATATATATAATATA TATACGGAATATATATATACGGAATATATATATAATATATATACGGAATA TATACATACGGAATATATATATAATATATATACGGAATATATACATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2266		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322703	T T	TAATATAT others(177): Show TAATATATATACGGAATATATATATACGGAATATATATATAATATATATA CGGAATATATATATACGGAATATATATATAATATATATACGGAATATATA TATACGGAATATATATATAATATATATACGGAATATATATATACGGAATA TATATATAATATATATACGGAATATATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	323	0.0031	184	c.-23 others(195): Show c.-2353_-2352insAATATATATACGGAATATATATATACGGAATATA TATATAATATATATACGGAATATATATATACGGAATATATATATAATATA TATACGGAATATATATATACGGAATATATATATAATATATATACGGAATA TATATATACGGAATATATATATAATATATATACGGAATATATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2266		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322830	A A	ACGGAATG others(177): Show ACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAATATAT ATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAATAT ATATACGGAATGTATATACGGAATATATATACGGAATGTATATATGGAAT ATATATACGGAATGTATATATATGGAATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	323	0.0031	184	c.-22 others(195): Show c.-2226_-2225insCGGAATGTATATACGGAATATATATACGGAATGT ATATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAAT GTATATACGGAATATATATACGGAATGTATATACGGAATATATATACGGA ATGTATATATGGAATATATATACGGAATGTATATATATGGAATATATACG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2139		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980224	A A	AAAGGAAG others(177): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	310	0.0032	184	c.149 others(203): Show c.149+10832_149+10833insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IHO1_chr3_49194498_49263106	49200475	A A	AAAAAAGA others(177): Show AAAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	196	0.0051	184	c.-16 others(199): Show c.-16+905_-16+906insAAGAAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49200499	G G	GAGAGGAG others(177): Show GAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAAAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0022 a0002c0003t0002g0022	1	196	0.0051	184	c.-16 others(199): Show c.-16+927_-16+928insGAGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGAGAGAAAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAGAAA AGAA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IL17RA_chr22_17080000_17120693	17094665	C C	CTATATAT others(177): Show CTATATATATATATATATGTGTGTATATATATATATATATATATATATGT GTATATATATATATATATATATATGTGTGTGTATATATATATATATATAT ATATGTGTGTGTATATATATATATATATATATATATATGTGTGTATATAT ATATATATATATATATATGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0018 a0001c0001t0097g0018	1	416	0.0024	184	c.139 others(201): Show c.139-2396_139-2395insATATATATATATATATGTGTGTATATAT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTGT GTATATATATATATATATATATATGTGTGTGTATATATATATATATATAT ATATATATGTGTGTATATATATATATATATATATATATGTGTGTATATAT ATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(177): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp2 others(71): Show HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02717.hp1 HG02735.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp2 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051	74	358	0.2067	184	c.615 others(201): Show c.615+1356_616-1181dupGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGA GGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAG GGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGG CGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(177): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACGAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	358	0.0028	184	c.616 others(201): Show c.616-1181_616-1180insGTCGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGA GGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAG GGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGG CGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(177): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCTGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	358	0.0028	184	c.616 others(201): Show c.616-1181_616-1180insGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCAGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGA GGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAG GGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGG CGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(177): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCC CATCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0002g0047 a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0002g0047	3	135	0.0222	184	c.703 others(205): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTTCCCCTCCCCTCC CCTTCCCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(177): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCC CGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG01243.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0129 a0001c0001t0001g0080 a0001c0001t0001g0129	2	135	0.0148	184	c.703 others(205): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCC CCTTCCCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(177): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCG TCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCC CGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0128 a0001c0001t0004g0002 a0001c0001t0004g0128	2	135	0.0148	184	c.703 others(205): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCC TCCCCTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCC CCTTCCCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(177): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTTCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCC CGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03139.hp1 HG03209.hp1 HG01106.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0001t0001 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0058 a0001c0001t0007g0133 a0001c0002t0004g0082 a0001c0001t0001g0058 a0001c0001t0007g0133 a0001c0002t0004g0082	3	135	0.0222	184	c.703 others(205): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCC CCTTCCCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361090	T T	TCTGTCTC others(177): Show TCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCGCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	115	0.0087	184	c.759 others(201): Show c.759+2227_759+2228insGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCGCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTGTCTCTCTCTCCCTTC CCCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62598379	G G	GTTTTCTT others(177): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTATTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	330	0.0030	184	c.267 others(203): Show c.2679-3385_2679-3384insTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29			chr5	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCCTCTC others(177): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTGCCTCTCCCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTC TCGCTCTCGCTCTCGCTCTCGCTCTCCTTCCGCGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0023 a0001c0054t0023	a0001c0054t0023g0136 a0001c0054t0023g0136	1	142	0.0070	184	c.163 others(201): Show c.163+5799_163+5800insCCGCGGAAGGAGAGCGAGAGCGAGAGCG AGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGGGAG AGGCAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
IVD_chr15_40400795_40426308	40422766	A A	ATTTTTGT others(177): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	378	0.0027	184	c.45 others(195): Show c.4503_*4504insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCCGGCTAAT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1459		chr15	TogoVar
IVD_chr15_40400795_40426308	40422766	A A	ATTTTTGT others(177): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0006 a0001c0001t0027g0006	1	378	0.0027	184	c.45 others(195): Show c.4503_*4504insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1459		chr15	TogoVar
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(177): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	206	0.0049	184	c.115 others(203): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAATAT others(177): Show TATAATATATATAATATATATTTATTAATATATAATAAATATATATTTAT AATATATATAAATAAATATATATTTATAATAAATAAATATAAATATATAT TTATTTATATAAATAAATATATATTTATTTATATAAATAAATATATATTT ATTATATATAAATAAATATATATTTATTTATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18747.hp1 NA18983.hp1 HG02293.hp1 NA18747.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0007g0296 a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0007g0296	3	338	0.0089	184	c.117 others(205): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(177): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATTAAAATAT ATACATATATTTATATATAAAATATATACATATATTTATATATATATAAA TATATACATATATTTATATATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp1 HG03041.hp1 HG01884.hp1 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0037 a0001c0001t0005 a0001c0001t0037	a0001c0001t0005g0008 a0001c0001t0005g0043 a0001c0001t0037g0160 a0001c0001t0005g0008 a0001c0001t0005g0043 a0001c0001t0037g0160	3	164	0.0183	184	c.211 others(205): Show c.2113-34241_2113-34240insTATATATTTTATATATATATAAAT ATATGTATATATTTATATATATATAAATATATGTATATATTTTATATATA AATATATGTATATATTTTAATATATAAATATATGTATATATTTTAATATA TAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCAT TAAATATATG	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209700	T T	TATTATAT others(177): Show TATTATATAATATATAATATATATTATATATTATATAATATATATTATAT ATTATATATTATATATTATATATTATATATATATAATATATATTATATAT ATATAATATATATTATATATTATATAATATATATTATATATATATAATAT ATATTATATATATTAAATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0234 a0001c0001t0008g0234	1	260	0.0039	184	c.963 others(203): Show c.963+14609_963+14610insTTATATAATATATAATATATATTATA TATTATATAATATATATTATATATTATATATTATATATTATATATTATAT ATATATAATATATATTATATATATATAATATATATTATATATTATATAAT ATATATTATATATATATAATATATATTATATATATTAAATATATATAATA TATATTAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK9_chr8_139612121_139708123	139687631	T T	TATGTGTA others(177): Show TATGTGTATACATATATATTCATATATATGTGTATACATATATATTCATA TATATGTGTATACATATATATTCATATATATGTGTATACATATATATTCA TATATTCATATATATGTATACATATATACACATATATTCATATATATGTA TACACATATATTCATATATATGTATACATATATTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp2 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0295 a0001c0001t0001g0297	2	322	0.0062	184	c.283 others(203): Show c.283+15078_283+15079insGAATATATGTATACATATATATGAAT ATATGTGTATACATATATATGAATATATGTGTATATATGTATACATATAT ATGAATATATGAATATATATGTATACACATATATATGAATATATATGTAT ACACATATATATGAATATATATGTATACACATATATATGAATATATATGT ATACACAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178758877	T T	TATATATA others(177): Show TATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TATCTCCTCTTGGAGATATATATATATATATATATCTCCAAGAGGAGATA TATATATATATATATATATATCTCCAAGAGGAGATATATATATATATCTC CAAGAGGAGATATATATATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	232	0.0043	184	c.-67 others(203): Show c.-67-48452_-67-48451insATATCTCCAAGAGGAGATATATATAT ATATATATATATCTCCTCTTGGAGATATATATATATATATATATCTCCAA GAGGAGATATATATATATATATATATATATCTCCAAGAGGAGATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN4_chr19_43761533_43785973	43780369	T T	TCCAGGAG others(177): Show TCCAGGAGTCCTGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG ACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCTGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCTCAGTCCCTCCTCCCTCAGACCC AGGAGTCCAAGCCCCCAGCCCCTCCTCCCTCAGAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	440	0.0023	184	c.159 others(199): Show c.159+333_159+334insGTCTGAGGGAGGAGGGGCTGGGGGCTTGGA CTCCTGGGTCTGAGGGAGGAGGGACTGAGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCAGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCAGGACTC CTGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KIAA0232_chr4_6777727_6889164	6880328	T T	TGTACTGT others(177): Show TGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTC CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGG TCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACCCGTCTGCAGTGCCCCCCTCACCATCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(65): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01106.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02155.hp2 HG02523.hp2 HG04228.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20905.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0012	a0001c0001 a0004c0005 a0010c0018 others(1): Show a0001c0001 a0004c0005 a0010c0018 a0012c0013	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0004c0005t0002 a0010c0018t0002 a0012c0013t0002	a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0020 others(65): Show a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0002g0347 a0001c0001t0008g0090 a0001c0001t0010g0113 a0001c0001t0020g0072 a0001c0001t0039g0128 a0001c0001t0040g0071 a0001c0001t0041g0119 a0001c0001t0042g0198 a0004c0005t0002g0063 a0004c0005t0002g0091 a0004c0005t0002g0123 a0004c0005t0002g0127 a0010c0018t0002g0049 a0012c0013t0002g0101	68	362	0.1879	184	c.400 others(201): Show c.4009-425_4009-424insGAGGTCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTC TGCAGTGCCCCCCTCACCATCGGTACTGTGTCACTGCAAACTCCCTTCCC AACACA	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6880328	T T	TGTACTGT others(177): Show TGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTC CCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGT CTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCC AACACACCCGTCTGCAGTGCCCCCCCTCACCATCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0043 a0011c0014t0043	a0011c0014t0043g0132 a0011c0014t0043g0132	1	362	0.0028	184	c.400 others(201): Show c.4009-425_4009-424insGAGGTCTGCAGTGTCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTCT GCAGTGCCCCCCCTCACCATCGGTACTGTGTCACTGCAAACTCCCTTCCC AACACA	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIF13A_chr6_17758693_17992635	17793750	C C	CTAAAAAT others(177): Show CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02895.hp2 others(2): Show HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0002 a0002c0010t0001g0003 a0002c0010t0001g0004 others(2): Show a0002c0010t0001g0002 a0002c0010t0001g0003 a0002c0010t0001g0004 a0002c0010t0001g0005 a0002c0010t0001g0006	5	282	0.0177	184	c.322 others(201): Show c.3222+498_3222+499insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTA	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	25/38			chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149528	T T	TCACATCC others(177): Show TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCA CACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAG CTCACACCCCTGTCCTCCTCACACACCACACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp1 others(10): Show HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG02004.hp2 HG03017.hp1 HG03831.hp2 NA18942.hp2 NA19056.hp1 NA19058.hp2 NA19083.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0043 a0001c0002 a0001c0003 a0001c0043	a0001c0002t0002 a0001c0003t0003 a0001c0003t0008 others(2): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0031 a0001c0043t0003	a0001c0002t0002g0067 a0001c0003t0003g0003 a0001c0003t0003g0004 others(8): Show a0001c0002t0002g0067 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0284 a0001c0003t0008g0267 a0001c0003t0008g0268 a0001c0003t0008g0290 a0001c0003t0031g0278 a0001c0043t0003g0277	13	308	0.0422	184	c.67 others(195): Show c.6738_*6739insCACATCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCC TCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3937		chr1	TogoVar

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