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
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(191): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01123.hp1 others(6): Show HG00408.hp2 HG01081.hp1 HG01123.hp1 HG01258.hp1 HG01361.hp2 HG02055.hp1 HG02293.hp1 NA18612.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0031 a0001c0001t0051 a0001c0001t0055 a0001c0005t0036	a0001c0001t0001g0002 a0001c0001t0004g0139 a0001c0001t0006g0151 others(5): Show a0001c0001t0001g0002 a0001c0001t0004g0139 a0001c0001t0006g0151 a0001c0001t0017g0005 a0001c0001t0031g0059 a0001c0001t0051g0009 a0001c0001t0055g0131 a0001c0005t0036g0024	9	37	0.2432	198	c.-76 others(207): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505301	C C	CCTCTCCC others(191): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0068 a0002c0002t0068g0068	1	394	0.0025	198	c.-72 others(207): Show c.-724_-723insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		235		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTAGATAT others(191): Show CTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	156	0.0064	198	c.22 others(209): Show c.2254_*2255insTAGATATATAGATACATCTAGATAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
ROBO2_chr3_77035099_77654964	77410567	T T	TTCCTCCT others(191): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTC TCCTCCTCTTCCTCCTGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	106	0.0094	198	c.389 others(217): Show c.389-66798_389-66797insCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTTCCTCCTTCTTCTCCTCCTCTTCCTCCTGCTCCTCTTT CTCCTCCTCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCT CTTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPTOR_chr17_80539838_80971368	80743867	T T	TAGCACTG others(191): Show TAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGCAGAGCCCTGG CTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0064 a0001c0068 a0001c0064 a0001c0068	a0001c0064t0005 a0001c0068t0025 a0001c0064t0005 a0001c0068t0025	a0001c0064t0005g0074 a0001c0068t0025g0107 a0001c0064t0005g0074 a0001c0068t0025g0107	2	190	0.0105	198	c.655 others(217): Show c.655-10138_655-10137insTGTCCTGGCTACGAGCACAGCCCTGG CTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743965	C C	CCCTGGTT others(191): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG TTACGAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	176	0.0057	198	c.655 others(217): Show c.655-10040_655-10039insTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744289	T T	TCCTGGCT others(191): Show TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0032	1	167	0.0060	198	c.655 others(215): Show c.655-9706_655-9705insTGTCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744307	C C	CCCTGGCT others(191): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20752.hp2 HG01081.hp1 NA20752.hp2	a0001 a0001	a0001c0037 a0001c0095 a0001c0037 a0001c0095	a0001c0037t0053 a0001c0095t0003 a0001c0037t0053 a0001c0095t0003	a0001c0037t0053g0139 a0001c0095t0003g0138 a0001c0037t0053g0139 a0001c0095t0003g0138	2	167	0.0120	198	c.655 others(215): Show c.655-9698_655-9697insCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(191): Show CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0004 a0001c0058t0004	a0001c0058t0004g0154 a0001c0058t0004g0154	1	137	0.0073	198	c.655 others(215): Show c.655-9644_655-9643insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744433	C C	CCCTGGTT others(191): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	166	0.0060	198	c.655 others(215): Show c.655-9572_655-9571insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744482	C C	CACTGTCC others(191): Show CACTGTCCTGGTTACGAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTA CTAGCAGAGCCCTGGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT CCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0021 a0001c0009t0078g0021	1	185	0.0054	198	c.655 others(215): Show c.655-9526_655-9525insTGTCCTGGTTACGAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744727	C C	CTACTAGC others(191): Show CTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG01884.hp1 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0072 a0001c0009 a0001c0072	a0001c0009t0028 a0001c0072t0005 a0001c0009t0028 a0001c0072t0005	a0001c0009t0028g0113 a0001c0072t0005g0076 a0001c0009t0028g0113 a0001c0072t0005g0076	2	163	0.0123	198	c.655 others(215): Show c.655-9274_655-9273insAGCCCTGGCTACTAGCAGAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(191): Show GGAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAA GGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02074.hp2 HG02280.hp1 others(17): Show HG01891.hp2 HG02074.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03130.hp2 HG03486.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp2 NA19067.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0011 a0001c0003 a0001c0005 a0001c0011	a0001c0003t0002 a0001c0003t0012 a0001c0005t0008 others(1): Show a0001c0003t0002 a0001c0003t0012 a0001c0005t0008 a0001c0011t0002	a0001c0003t0002g0033 a0001c0003t0002g0037 a0001c0003t0002g0045 others(17): Show a0001c0003t0002g0033 a0001c0003t0002g0037 a0001c0003t0002g0045 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0092 a0001c0003t0012g0020 a0001c0005t0008g0310 a0001c0005t0008g0311 a0001c0005t0008g0318 a0001c0005t0008g0342 a0001c0011t0002g0112	20	21	0.9524	198	c.807 others(215): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTC TTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCT CCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTCC CTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD11_chr1_918923_949574	934511	C C	CGGGGGAG others(191): Show CGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0198 a0001c0001t0013g0198	1	407	0.0025	198	c.843 others(215): Show c.843-1256_843-1255insAGGCGGCTGCGTTACAGGTGGGCAGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCAGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469560	T T	TATTATAT others(191): Show TATTATATATTATATATAATATATATTATATATAATATATAATATATTAT ATATATATATTAATATAAATATATAAATATATATTATATATTATATATAA TATATAATATATTATATATATATTTAATATATATTTTATATATAAATATA TATTATATATATTTTAATATATATTTTATATATATTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	186	0.0054	198	c.193 others(217): Show c.193-29600_193-29599insTATATATATATTTAATATATATAAAA TATATATTAAAATATATATAATATATATTTATATATAAAATATATATTAA ATATATATATAATATATTATATATTATATATAATATATAATATATATTTA TATATTTATATTAATATATATATATAATATATTATATATTATATATAATA TATATTATATATAATATATAAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(191): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02300.hp2 NA18522.hp1 others(2): Show HG02129.hp1 HG02300.hp2 NA18522.hp1 NA18974.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0025	5	304	0.0164	198	c.48 others(209): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(191): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTC CCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCGTCTCCCTCTCGCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0034 a0002c0004t0001g0034	1	351	0.0028	198	c.49 others(209): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCGCTCTCCCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCGTCT CCCTCTCGCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4780		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288899	T T	TCCGTCCC others(191): Show TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	238	0.0084	198	c.166 others(215): Show c.1662+874_1662+875insCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCT others(191): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	269	0.0037	198	c.166 others(215): Show c.1662+907_1662+908insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289181	T T	TCCGTCCC others(191): Show TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	229	0.0044	198	c.166 others(217): Show c.1663-1083_1663-1082insGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCGTGTCT others(191): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	268	0.0037	198	c.166 others(215): Show c.1663-837_1663-836insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192612	G G	GTATATAT others(191): Show GTATATATATATACGTGTATATATATATACGTGTATATATATATACGTGT ATATATATATATACGTATATATATATATACGTGTATATATATATACGTGT ATATATATATACGTGTATATATATATATACGTGTATATATATATACGTGT ATATATATATATATATACGTGTATATATATATACGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0206 a0002c0002t0047g0206	1	116	0.0086	198	c.11 others(211): Show c.11384_*11385insTATATATATATACACGTATATATATATACACG TATATATATATATATATACACGTATATATATATACACGTATATATATATA TACACGTATATATATATACACGTATATATATATACACGTATATATATATA TACGTATATATATATATACACGTATATATATATACACGTATATATATATA CACGTATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4667		chr22	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGGTG others(191): Show GGGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01169.hp2 HG01261.hp1 HG00438.hp2 HG01169.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0001t0001g0143	3	132	0.0227	198	c.335 others(215): Show c.335+2772_335+2773insGTGACCCCCCCACCTCCCTCCCGGACGG GCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGG CGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(191): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04199.hp1 NA19078.hp2 HG01175.hp2 HG04199.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0009 a0002c0004t0001g0160 a0001c0001t0001g0009 a0002c0004t0001g0160	3	132	0.0227	198	c.335 others(215): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGG CGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(191): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG01175.hp1 HG00741.hp1 HG01169.hp1 HG01175.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0015 a0003c0008t0001 a0001c0001t0001 a0001c0001t0015 a0003c0008t0001	a0001c0001t0001g0131 a0001c0001t0015g0065 a0003c0008t0001g0102 a0001c0001t0001g0131 a0001c0001t0015g0065 a0003c0008t0001g0102	3	132	0.0227	198	c.335 others(215): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGG CGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(191): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0176 a0001c0003t0002g0176	1	130	0.0077	198	c.335 others(215): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGG CGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEMA5A_chr5_9030033_9551075	9353334	A A	AAAGGAAA others(191): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGG AAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAA GGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAATGAAAGGAA AGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0096 a0001c0001t0056g0096	1	130	0.0077	198	c.125 others(217): Show c.125-15523_125-15522insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(191): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGG AAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAA GGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAATGAAAGGAA AGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0118 a0001c0001t0019g0118	1	120	0.0083	198	c.125 others(217): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TATATTGT others(191): Show TATATTGTATATTATATAATATATTGTATATTATATAATATATTGTATAT TATATAATATATAATATATTGTATATTACATATAATATATTGTATATTAT ATATAATATATTGTATATTATATATAATATATTGTATATTATATATTGTA TATTATATAATATATTGTATATTATATATTATATATTGTATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02896.hp1 others(1): Show HG02615.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0010 a0003c0005 a0007c0010	a0003c0005t0006 a0007c0010t0006 a0003c0005t0006 a0007c0010t0006	a0003c0005t0006g0009 a0007c0010t0006g0187 a0003c0005t0006g0009 a0007c0010t0006g0187	4	285	0.0140	198	c.-15 others(209): Show c.-1543_-1542insTATATAATATACAATATATAATATATAATATACA ATATATTATATAATATACAATATATAATATACAATATATTATATATAATA TACAATATATTATATATAATATACAATATATTATATGTAATATACAATAT ATTATATATTATATAATATACAATATATTATATAATATACAATATATTAT ATAATATACAATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SERINC2_chr1_31408213_31439678	31431787	T T	TAGGGTGG others(191): Show TAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	343	0.0029	198	c.101 others(217): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGG GTGGACAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431858	A A	ATAGGGTG others(191): Show ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0202 a0002c0006t0008g0202	1	336	0.0030	198	c.101 others(217): Show c.1014-1091_1014-1090insTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGA GAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432084	T T	TAGGGTGG others(191): Show TAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGATGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	282	0.0035	198	c.101 others(215): Show c.1014-875_1014-874insTAGGATGGTTAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432093	C C	CAGGGTGG others(191): Show CAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	177	0.0056	198	c.101 others(215): Show c.1014-867_1014-866insTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432187	G G	GTGGACAG others(191): Show GTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGTCAGGGTGGACAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0253 a0001c0003t0004g0253	1	337	0.0030	198	c.101 others(215): Show c.1014-777_1014-776insACAGGGTGGACAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGT GGACAGGGTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(191): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA TATAATATTGTATTACATTTTATTATAATATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	17	0.0588	198	c.192 others(217): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT GTATTACATTTTATTATAATATAATATATTATATTATAATATATTATATT TTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(191): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA TATAATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02895.hp1 others(5): Show HG02717.hp2 HG02723.hp2 HG02895.hp1 HG03139.hp1 HG03453.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 a0001c0001t0037 a0001c0002t0022 a0001c0002t0052	a0001c0001t0001g0025 a0001c0001t0001g0117 a0001c0001t0009g0036 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0117 a0001c0001t0009g0036 a0001c0001t0009g0067 a0001c0001t0018g0039 a0001c0001t0037g0042 a0001c0002t0022g0029 a0001c0002t0052g0111	8	24	0.3333	198	c.192 others(217): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT GTATTATATTTTATTATAATATAATATATTATATTATAATATATTATATT TTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(191): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATAATATTATATTTTATT ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA TATAATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0141 a0001c0001t0033g0141	1	17	0.0588	198	c.192 others(217): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATATAA TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT GTATTATATTTTATTATAATATAATATATTATATTATAATATATTATATT TTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGSM2_chr17_2332501_2386054	2355784	G G	GGGGGAAG others(191): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0277 a0002c0002t0009g0277	1	366	0.0027	198	c.134 others(215): Show c.134-5800_134-5799insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3TC1_chr4_8194290_8246103	8229885	A A	AGGCCAGG others(191): Show AGGCCAGGGAACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAA CAGTCGAGGAGACCGGGGGCCAGGGGACGAGGATCATGCTTCCCTGTCTC CCCACCCCGCGTTGAACAGTCGAGGAGACCGGGGGCCAGGGGACGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	372	0.0027	198	c.295 others(217): Show c.2950+1430_2950+1431insGAGACCGGGGGCCAGGGAACGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGG GCCAGGGGACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACA GTCGAGGAGACCGGGGGCCAGGGGACGAGGATCATGCTTCCCTGTCTCCC CACCCCGCGTTGAACAGTCGAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8229894	A A	AACGAGGA others(191): Show AACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGG AGACCGGGGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCG CGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGATGAGGATCATGCTTCC CTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20905.hp1 HG01257.hp2 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0224 a0002c0004t0001g0297 a0002c0004t0001g0224 a0002c0004t0001g0297	2	340	0.0059	198	c.295 others(217): Show c.2950+1317_2950+1318insTGAGGATCATGCTTCCCTGTCTCCCC ACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGATGAGGATCAT GCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCC AGGGGACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTC GAGGAGACCGGGGGCCAGGGGA	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8230028	C C	CGAGGATC others(191): Show CGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAG ACCGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCG TTGAACAGTCGAGGAGACCGGGGGCCAGGGGATGAGGATCATGCTTCCCT GTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18943.hp1 NA18960.hp2 others(2): Show NA18942.hp1 NA18943.hp1 NA18960.hp2 NA18971.hp1 NA19010.hp1	a0002 a0036 a0002 a0036	a0002c0003 a0036c0046 a0002c0003 a0036c0046	a0002c0003t0002 a0036c0046t0002 a0002c0003t0002 a0036c0046t0002	a0002c0003t0002g0151 a0002c0003t0002g0279 a0002c0003t0002g0281 others(2): Show a0002c0003t0002g0151 a0002c0003t0002g0279 a0002c0003t0002g0281 a0002c0003t0002g0283 a0036c0046t0002g0280	5	298	0.0168	198	c.295 others(217): Show c.2950+1430_2950+1431insGAGACCGGAGGCCAGGGGATGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGG GCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACA GTCGAGGAGACCGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCC CACCCCGCGTTGAACAGTCGAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(191): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0058 a0001c0001t0021g0058	1	76	0.0132	198	c.691 others(217): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(191): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0132 a0001c0001t0018g0132	1	76	0.0132	198	c.691 others(217): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(191): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	76	0.0132	198	c.691 others(217): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(191): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	76	0.0132	198	c.691 others(217): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGGG others(191): Show GGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGT GCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCT GACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18906.hp1 others(1): Show HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0191 a0001c0004t0001g0007 a0001c0004t0001g0191	4	166	0.0241	198	c.-15 others(217): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(191): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGT GCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCT GACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	163	0.0061	198	c.-15 others(217): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATG GTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411274	G G	GGGGGTGG others(191): Show GGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGT GCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCT GACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(18): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG01175.hp2 HG01258.hp1 HG01517.hp1 HG02300.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18951.hp2 NA18970.hp2 NA18983.hp1 NA19005.hp1 NA19066.hp2 NA19068.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0111 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0196	21	231	0.0909	198	c.-15 others(217): Show c.-153-1248_-153-1247insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(191): Show GTATATATATATATATATATATACTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTGTGTATATATATATATATATGTATATATATAT ATATTTATACACACATATATATACATACACATATATATATACACACACAC ACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0246	1	166	0.0060	198	c.240 others(217): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(191): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02486.hp1 HG02602.hp2 others(3): Show HG01169.hp2 HG02486.hp1 HG02602.hp2 HG04115.hp1 NA18522.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0002 a0001c0002t0001g0037 a0001c0002t0001g0079 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0037 a0001c0002t0001g0079 a0001c0002t0001g0125 a0001c0002t0001g0204 a0001c0002t0010g0020	6	171	0.0351	198	c.240 others(217): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar

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