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
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGTT others(173): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0069 a0001c0003t0010g0069	1	196	0.0051	180	c.655 others(197): Show c.655-9518_655-9517insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744721	T T	TCCTGGCT others(173): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACGAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	180	c.655 others(197): Show c.655-9274_655-9273insAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC AC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744799	C C	CTTCTAGC others(173): Show CTTCTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGTC CTGGCTTCTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTTCTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0089 a0001c0089	a0001c0089t0006 a0001c0089t0006	a0001c0089t0006g0159 a0001c0089t0006g0159	1	196	0.0051	180	c.655 others(197): Show c.655-9210_655-9209insTCTAGCAGAGCCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGTCCTGGCTTCTAGCAGAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTTCTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59774599	T T	TAAAAACA others(173): Show TAAAAACACATGAAACCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAGAAAAAGCCTCACCCTGGCTGGGTGTGGTGG CTCACGCCTGAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0081 a0003c0004t0001g0081	1	172	0.0058	180	c.242 others(199): Show c.242-28119_242-28118insTTTTTTTTTTTTTTTTTTTTTCAGGC GTGAGCCACCACACCCAGCCAGGGTGAGGCTTTTTCTTTTTTTTTTTTTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGGTTTCATGTGT TTTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59774599	T T	TAAAAACA others(173): Show TAAAAACACATGAAACCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAGAAAAAGCCTCACCCTGGCTGGGTGTGGTGGC TCACGCCTGAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0080 a0003c0004t0001g0080	1	172	0.0058	180	c.242 others(199): Show c.242-28119_242-28118insTTTTTTTTTTTTTTTTTTTTTTCAGG CGTGAGCCACCACACCCAGCCAGGGTGAGGCTTTTTCTTTTTTTTTTTTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGGTTTCATGTGT TTTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SARDH_chr9_133658560_133743352	133668702	C C	CCCTCCCT others(173): Show CCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCAC CCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0003 a0002c0043t0003	a0002c0043t0003g0141 a0002c0043t0003g0141	1	262	0.0038	180	c.249 others(199): Show c.2496-1833_2496-1832insATGAGGGGAGAGGGAGGGTGAGGGAG AGGGAGGGTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGG GAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SART1_chr11_65956734_65985137	65971393	T T	TGAGGAGG others(173): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0249 a0001c0002t0003g0249	1	384	0.0026	180	c.157 others(199): Show c.1572+3573_1572+3574insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971576	T T	TGCTGAGG others(173): Show TGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01978.hp1 HG00597.hp2 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0086 a0002c0001t0001g0105 a0002c0001t0001g0086 a0002c0001t0001g0105	2	384	0.0052	180	c.157 others(199): Show c.1572+3760_1572+3761insGGAGGGGGATGGTGGGATTCAGGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB1C2_chr17_132569_144067	141497	A A	ATGGGGGG others(173): Show ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	402	0.0025	180	c.25 others(191): Show c.2555_*2556insTGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2431		chr17	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(173): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01884.hp2 NA18968.hp1 HG00140.hp1 HG01884.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013	3	390	0.0077	180	c.48 others(191): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCCC others(173): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCGCTCTCCGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0034 a0002c0004t0001g0034	1	390	0.0026	180	c.49 others(191): Show c.4914_*4915insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTCCGTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288204	T T	TGTGTCTC others(173): Show TGTGTCTCTGCCCCGTCCTGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	180	c.166 others(197): Show c.1662+177_1662+178insCCCGTCCTGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GC	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(173): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	290	0.0035	180	c.166 others(197): Show c.1662+887_1662+888insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289120	C C	CCTGCTCC others(173): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	180	c.166 others(199): Show c.1662+1105_1662+1106insTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(173): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	180	c.166 others(197): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE2_chr11_9014476_9096599	9040555	G G	GCGTGGGT others(173): Show GCGTGGGTACGTAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGG AGGGTATACACCATGGGTACGCAGGAGAAAGGGAGGATTCATATCCCAGG CAGGATGGGGAGGGTATACACCGTGGGTACGCAGGAGAAAGGGAGGATTC ATATCCCAGGCAGGATGGGGAGGATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01192.hp1 others(42): Show HG00558.hp2 HG00621.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG02056.hp2 HG02132.hp1 HG02523.hp1 HG02683.hp2 HG02895.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0012	a0001c0002 a0001c0005 a0002c0001 others(5): Show a0001c0002 a0001c0005 a0002c0001 a0003c0012 a0004c0004 a0004c0035 a0009c0017 a0012c0023	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0003c0012t0001 a0004c0004t0004 a0004c0035t0004 a0009c0017t0004 a0012c0023t0001	a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 others(41): Show a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0068 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0002g0094 a0001c0005t0001g0001 a0001c0005t0001g0017 a0001c0005t0001g0073 a0001c0005t0001g0077 a0001c0005t0001g0084 a0001c0005t0001g0090 a0002c0001t0001g0345 a0002c0001t0003g0327 a0002c0001t0004g0230 a0002c0001t0004g0231 a0002c0001t0004g0232 a0002c0001t0004g0235 a0002c0001t0004g0250 a0002c0001t0004g0253 a0002c0001t0004g0261 a0002c0001t0004g0262 a0002c0001t0004g0268 a0002c0001t0004g0287 a0002c0001t0004g0319 a0002c0001t0004g0333 a0002c0001t0004g0340 a0003c0012t0001g0129 a0004c0004t0004g0251 a0004c0004t0004g0258 a0004c0004t0004g0260 a0004c0004t0004g0301 a0004c0004t0004g0337 a0004c0035t0004g0274 a0009c0017t0004g0245 a0009c0017t0004g0295 a0012c0023t0001g0106	45	358	0.1257	180	c.200 others(199): Show c.2003-6760_2003-6759insGTGTATATCCTCCCCATCCTGCCTGG GATATGAATCCTCCCTTTCTCCTGCGTACCCACGGTGTATACCCTCCCCA TCCTGCCTGGGATATGAATCCTCCCTTTCTCCTGCGTACCCATGGTGTAT ACCCTCCCCATCCTGCCTGGGATATGAATCCTCCCTTTCTCCTACGTACC CACG	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9040555	G G	GCGTGGGT others(173): Show GCGTGGGTACGTAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGG AGGGTATACACCATGGGTACGCAGGAGAAAGGGAGGATTCATATCCCAGG CAGGATGGGGAGGGTATACACCGTGGGTACGCAGGAGAAAGGGAGGATTC ATATCCCAGGCAGGATGGGGAGGGTATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp2 HG01943.hp1 others(20): Show HG00408.hp2 HG01175.hp2 HG01943.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp2 NA18939.hp2 NA19002.hp1 NA19004.hp2 NA19062.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0003c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0002c0001t0004 a0003c0003t0001 a0003c0003t0009 a0003c0003t0010 a0003c0003t0021 a0003c0009t0001	a0001c0002t0001g0019 a0001c0002t0001g0049 a0001c0002t0001g0062 others(20): Show a0001c0002t0001g0019 a0001c0002t0001g0049 a0001c0002t0001g0062 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0002g0020 a0001c0002t0006g0021 a0001c0002t0009g0007 a0001c0002t0010g0069 a0002c0001t0004g0324 a0002c0001t0004g0338 a0002c0001t0004g0343 a0002c0001t0004g0350 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0147 a0003c0003t0009g0183 a0003c0003t0009g0199 a0003c0003t0010g0176 a0003c0003t0021g0180 a0003c0009t0001g0181 a0003c0009t0001g0208 a0003c0009t0001g0209	23	358	0.0643	180	c.200 others(199): Show c.2003-6760_2003-6759insGTGTATACCCTCCCCATCCTGCCTGG GATATGAATCCTCCCTTTCTCCTGCGTACCCACGGTGTATACCCTCCCCA TCCTGCCTGGGATATGAATCCTCCCTTTCTCCTGCGTACCCATGGTGTAT ACCCTCCCCATCCTGCCTGGGATATGAATCCTCCCTTTCTCCTACGTACC CACG	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9040555	G G	GCGTGGGT others(173): Show GCGTGGGTACGTAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGG AGGGTATACACCGTGGGTACGCAGGAGAAAGGGAGGATTCATATCCCAGG CAGGATGGGGAGGGTATACACCGTGGGTACGCAGGAGAAAGGGAGGATTC ATATCCCAGGCAGGATGGGGAGGGTATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0134	1	358	0.0028	180	c.200 others(199): Show c.2003-6760_2003-6759insGTGTATACCCTCCCCATCCTGCCTGG GATATGAATCCTCCCTTTCTCCTGCGTACCCACGGTGTATACCCTCCCCA TCCTGCCTGGGATATGAATCCTCCCTTTCTCCTGCGTACCCACGGTGTAT ACCCTCCCCATCCTGCCTGGGATATGAATCCTCCCTTTCTCCTACGTACC CACG	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SDK1_chr7_3296252_4274000	4262884	A A	ACCCCCCT others(173): Show ACCCCCCTCTCCTCCCCTCCCCTCTACCTCATCACCCCCCACCCCCTCCC CTCCCCTCTACCTCATCACCTCCACCCCCTCTCCTCCCCTCCCTTCTACC TCATCACCCCCTACCCCTCCCCTCCCCTCTACCTAATCACCTCCCCACCC CCTCCCCTCCCTTCTACCTCATCACCCCCAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	180	c.638 others(199): Show c.6382-2235_6382-2234insCTCTCCTCCCCTCCCCTCTACCTCAT CACCCCCCACCCCCTCCCCTCCCCTCTACCTCATCACCTCCACCCCCTCT CCTCCCCTCCCTTCTACCTCATCACCCCCTACCCCTCCCCTCCCCTCTAC CTAATCACCTCCCCACCCCCTCCCCTCCCTTCTACCTCATCACCCCCACC CCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(173): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGTTAGGGTGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0335 a0002c0002t0001g0335	1	376	0.0027	180	c.101 others(199): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGG GTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431795	A A	ATAGGGTG others(173): Show ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGT TAGAGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	376	0.0027	180	c.101 others(199): Show c.1014-1163_1014-1162insTAGGGTGGATAGGGTGGTTAGGGTGG TTAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGACAGGGTGGTTAGAGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431868	T T	TAGGGTGG others(173): Show TAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0152 a0001c0004t0003g0152	1	376	0.0027	180	c.101 others(199): Show c.1014-1092_1014-1091insTTAGGGTGGATAGGGTGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432003	T T	TAGGGTGG others(173): Show TAGGGTGGACAGGGTGGACAGGATGGTTAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGACAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	376	0.0027	180	c.101 others(197): Show c.1014-956_1014-955insCAGGGTGGACAGGATGGTTAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGAT GGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTG GA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432048	C C	CAGGGTGG others(173): Show CAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCAGAGGGT GCAGAGGGTGGAGAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	376	0.0027	180	c.101 others(197): Show c.1014-912_1014-911insTTAGGGTGGACAGGGTGGAGAGGGTGCA GAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(173): Show CAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGTGGATAGGGT GGTTAGGGTGGACAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	376	0.0027	180	c.101 others(197): Show c.1014-795_1014-794insTTAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ACAGGGTG others(173): Show ACAGGGTGGACAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGAGAGG GTGGATAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0229 a0004c0009t0005g0229	1	376	0.0027	180	c.101 others(197): Show c.1014-803_1014-802insCAGGGTGGACAGGGTGGAGAGGGTGGTT AGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGCTTAGGGT GGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATG GT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ACAGGGTG others(173): Show ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAGAGAGTGGACAGGG TGGAGAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0120 a0001c0003t0002g0120	1	376	0.0027	180	c.101 others(197): Show c.1014-803_1014-802insCAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTA GGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGATG GT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGATGG others(173): Show TAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTT AGAGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0145 a0002c0002t0004g0145	1	376	0.0027	180	c.101 others(197): Show c.1014-790_1014-789insATGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432183	T T	TAGGGTGG others(173): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	376	0.0027	180	c.101 others(197): Show c.1014-777_1014-776insATAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAG AGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(173): Show TATATATATATATTATATATACGTATATATATATAATATATATATATTAT ATATACGTATATATAATATATATATATTATATATACGTATATATAATATA TATATTATATATACGTATATATAATATATATATATTATATATACGTATAT ATAATATATATATTATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0136 a0001c0001t0110g0136	1	462	0.0022	180	c.567 others(195): Show c.567+219_567+220insTATATATACGTATATATAATATATATATTA TATATACGTATATATAATATATATATATTATATATACGTATATATAATAT ATATATTATATATACGTATATATAATATATATATATTATATATACGTATA TATAATATATATATATTATATATATATACGTATATATAATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00673.hp1 others(29): Show HG00408.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG02040.hp2 HG02074.hp1 HG02738.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0057 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0005g0011 a0001c0001t0013g0002 a0001c0001t0015g0185	32	445	0.0719	180	c.-37 others(191): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739315	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01975.hp2 HG01952.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0031 a0001c0001t0002g0011 a0001c0001t0002g0031	2	445	0.0045	180	c.-35 others(191): Show c.-3598_-3597insGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3555		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739336	A A	CGCAGGAC others(173): Show CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	445	0.0023	180	c.-35 others(191): Show c.-3578_-3577insCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3535		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739426	A A	AGCCGGAC others(173): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	445	0.0023	180	c.-34 others(191): Show c.-3487_-3486insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3444		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740324	A A	AGCCGGAC others(173): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	445	0.0023	180	c.-25 others(191): Show c.-2589_-2588insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2546		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740348	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA19085.hp1 NA18964.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0057 a0001c0001t0002g0012 a0001c0001t0002g0057	2	445	0.0045	180	c.-25 others(191): Show c.-2565_-2564insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2522		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740909	C C	CGCAGGAC others(173): Show CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0008 a0001c0001t0018g0008	1	445	0.0023	180	c.-20 others(191): Show c.-2004_-2003insGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1961		chr17	TogoVar
SGK3_chr8_66707781_66867022	66720613	T T	TACAAAAA others(173): Show TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp1 NA20300.hp2 HG03471.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0013 a0001c0002t0005 a0001c0002t0013	a0001c0002t0005g0062 a0001c0002t0005g0065 a0001c0002t0013g0025 a0001c0002t0005g0062 a0001c0002t0005g0065 a0001c0002t0013g0025	3	142	0.0211	180	c.-12 others(199): Show c.-122+7781_-122+7782insCAAAAAATTAGCCGGGCGTGGTAGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3BP4_chr2_234947017_235060714	235010769	G G	GAACCCTT others(173): Show GAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCGTAGAACC CTTCCTCACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCT TCCTCCTTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTC CCTCTCCTAGGAGAACCTTTCCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01123.hp2 others(37): Show HG00733.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0011 a0012	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0023 a0001c0024 a0002c0001 a0002c0019 a0003c0010 a0004c0005 a0007c0011 a0011c0018 a0012c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0008 a0001c0013t0001 a0001c0023t0003 a0001c0024t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0019t0001 a0003c0010t0001 a0004c0005t0002 a0007c0011t0006 a0011c0018t0002 a0012c0027t0002	a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0037 others(37): Show a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0002t0001g0094 a0001c0002t0001g0120 a0001c0002t0001g0280 a0001c0002t0002g0122 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0003g0012 a0001c0002t0003g0022 a0001c0002t0003g0027 a0001c0002t0003g0035 a0001c0002t0003g0341 a0001c0002t0016g0039 a0001c0003t0001g0153 a0001c0003t0001g0342 a0001c0003t0002g0096 a0001c0004t0008g0028 a0001c0013t0001g0009 a0001c0023t0003g0024 a0001c0024t0001g0049 a0002c0001t0001g0033 a0002c0001t0001g0048 a0002c0001t0001g0089 a0002c0001t0001g0093 a0002c0001t0001g0261 a0002c0001t0001g0273 a0002c0001t0001g0336 a0002c0001t0003g0023 a0002c0001t0003g0026 a0002c0001t0003g0340 a0002c0001t0005g0034 a0002c0019t0001g0140 a0003c0010t0001g0128 a0004c0005t0002g0038 a0004c0005t0002g0136 a0007c0011t0006g0017 a0011c0018t0002g0339 a0012c0027t0002g0334	40	348	0.1149	180	c.-13 others(201): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGGAGAACCCTTCCTCCTTCTCCTAGGAGAACCCTT CCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCC CTCTCC	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5			chr2	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAGAAAGA others(173): Show GAGAAAGAAAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGA GAGGGGTGGGGGAAGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGGAAAGACAAAGAGAGAGAGAGAAAGAAAGGAAAGGAA GGAAGGAAGGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02717.hp1 others(3): Show HG02109.hp2 HG02451.hp1 HG02717.hp1 HG02809.hp2 HG03130.hp1 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0280 a0001c0003t0001g0282 others(3): Show a0001c0003t0001g0069 a0001c0003t0001g0280 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0286	6	302	0.0199	180	c.118 others(199): Show c.1182+4858_1182+4859insTTCTTTCTTTCTTTCTTTCTTCCTTC CTTCCTTCCTTTCCTTTCTTTCTCTCTCTCTCTTTGTCTTTCCCTTCCTT CCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCTTCCCCCAC CCCTCTCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTTTCT TTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(173): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCGCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0102 a0001c0001t0093g0102	1	214	0.0047	180	c.691 others(199): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCGCTTCCCTTCCCTTCCCTTCCC TTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(173): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0010 a0001c0001t0058g0010	1	198	0.0051	180	c.316 others(197): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270754	A A	ATATATAT others(173): Show ATATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACT GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0179 a0001c0010t0001g0179	1	266	0.0038	180	c.240 others(199): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(173): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18980.hp2 NA18989.hp2 others(1): Show NA18942.hp2 NA18980.hp2 NA18989.hp2 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0064 a0002c0003t0003g0066 a0002c0003t0003g0092 others(1): Show a0001c0001t0002g0064 a0002c0003t0003g0066 a0002c0003t0003g0092 a0002c0003t0003g0245	4	266	0.0150	180	c.240 others(199): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(173): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	266	0.0038	180	c.240 others(199): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(173): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG01891.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0247 a0001c0001t0004g0248 a0001c0001t0001g0247 a0001c0001t0004g0248	2	266	0.0075	180	c.240 others(199): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATTTATACACACATATATATACATACACATATATATATA CACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(173): Show ATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGT GTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02723.hp2 others(2): Show HG01255.hp2 HG01884.hp2 HG02723.hp2 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0154 a0001c0001t0004g0156 others(2): Show a0001c0001t0004g0050 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0255 a0001c0001t0004g0256	5	266	0.0188	180	c.240 others(199): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(173): Show ATATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACT GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATTT ATACACACATATATATACATACACATATATATATACACACACACACAGAG TTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0260 a0001c0001t0010g0011 a0001c0001t0001g0260 a0001c0001t0010g0011	2	266	0.0075	180	c.240 others(199): Show c.2402+1018_2402+1019insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1061220	A A	ACCGCACC others(173): Show ACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCACCTGCCGT GCGGGATCCCTGAGTCTCACCCGCCACACCCGCCGTGCGGGATCCCTGAG TCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCA CCCGCCGTGCGGGATCCCTGAGTCTCACCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 HG01884.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0014t0003g0058 a0001c0014t0003g0059	2	118	0.0170	180	c.274 others(197): Show c.2740-770_2740-769insCGGGTGAGACTCAGGGATCCCGCACGGC GGGTGCGGTGGGTGAGACGCAGGGGTCCCGCACGGCGGGTGCGGTGGGTG AGACTCAGGGATCCCGCACGGCGGGTGTGGCGGGTGAGACTCAGGGATCC CGCACGGCAGGTGCGGTGGGTGAGACGCAGGGGTCCCGCACGGCGGGTGC GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3402417	G G	GACCCCAA others(173): Show GACCCCAATCACCCACACTACCCAGAGCGCACTAGGCCCCAGCCAACCCC AATCATCCACACTACCCAGAGTGCACTAGGCTCCAGCTGACACCACAATC ACCCACACTACCCAGAGCGCACTAGGCTCCAGCTGACACCACAATCACCC ACACTACCCAGAGTGCACTAGGCCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0208 a0001c0001t0058g0208	1	222	0.0045	180	c.913 others(197): Show c.913+7770_913+7771insTGGCTGGGGCCTAGTGCACTCTGGGTAG TGTGGGTGATTGTGGTGTCAGCTGGAGCCTAGTGCGCTCTGGGTAGTGTG GGTGATTGTGGTGTCAGCTGGAGCCTAGTGCACTCTGGGTAGTGTGGATG ATTGGGGTTGGCTGGGGCCTAGTGCGCTCTGGGTAGTGTGGGTGATTGGG GT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar

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