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
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(221): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCCGTCCCCATCCCC CATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCG TCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	452	0.0022	228	c.757 others(243): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCC ATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(221): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCG TCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	452	0.0022	228	c.757 others(243): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCC ATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(221): Show GCCCACCCCATCCCCCGTCCCCATCCCCCCATCCCCCGTCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCG TCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	452	0.0022	228	c.757 others(243): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCCATCCC CCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCA TCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCC ATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(221): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCATCCCATCCCCCACCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCATCCC CCACCCCCCACCCATCCCCCAGCCCCACC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0269 a0001c0001t0008g0269	1	452	0.0022	228	c.757 others(243): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCATCCCATCCCCCACC CCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCG TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCC CCCCACCCCCATCCCCCACCCCCCACCCATCCCCCAGCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(221): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTACGTATGTGTATACATACATACGTATGTATGTG TATACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	228	c.-23 others(239): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(221): Show TGCATACATATGTATGTGTATGCATACATATGTATGTATGTGTATACATA CGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACATA CGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATG TATGTGTACACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	228	c.-23 others(239): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATGTATACACATACATACGTATGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RIMBP2_chr12_130391133_130721299	130646363	C C	CTGCCTCT others(221): Show CTGCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCT CCCTCTCCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCC CTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTGCCT CTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCT CCACCTGCCTCTCCACCTCCCTCACCACT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	180	0.0056	228	c.-35 others(249): Show c.-351-17908_-351-17907insAGTGGTGAGGGAGGTGGAGAGGCA GGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGG TGGAGAGGCAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTG GTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGA GAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGA GGCA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIN2_chr20_19753258_20007456	19861746	C C	CGATGATC others(221): Show CGATGATCACCCTCCATATCTGATGATCACCCTCCATATCTGATGATCAC CCTCCATATCTAATGATGACCATCCATATCTGATCATTCTCCATATTCAA TGATCACCCTCCATATCTGATCAACCTCCATACCTGATGATCACCCTCCA TATGTGATCACCCTCCATATCTGATGATCACCATCCATATCTGATCATCT TCCATATTTGATGCTCACCCTCCATATCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	276	0.0036	228	c.-36 others(247): Show c.-36-27759_-36-27532dupAATGATGACCATCCATATCTGATCAT TCTCCATATTCAATGATCACCCTCCATATCTGATCAACCTCCATACCTGA TGATCACCCTCCATATGTGATCACCCTCCATATCTGATGATCACCATCCA TATCTGATCATCTTCCATATTTGATGCTCACCCTCCATATCTGATGATCA CCCTCCATATCTGATGATCACCCTCCATATCTGATGATCACCCTCCATAT CT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505259	T T	TCTCTCCC others(221): Show TCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0090 a0001c0001t0085 a0001c0001t0090	a0001c0001t0085g0225 a0001c0001t0090g0060 a0001c0001t0085g0225 a0001c0001t0090g0060	2	396	0.0051	228	c.-76 others(237): Show c.-766_-765insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		277		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(221): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02015.hp2 HG03831.hp2 others(3): Show HG00639.hp2 HG02015.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0013 a0001c0001t0028 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0028 a0002c0002t0024	a0001c0001t0010g0012 a0001c0001t0010g0065 a0001c0001t0013g0008 others(3): Show a0001c0001t0010g0012 a0001c0001t0010g0065 a0001c0001t0013g0008 a0001c0001t0013g0063 a0001c0001t0028g0113 a0002c0002t0024g0067	6	396	0.0152	228	c.-76 others(237): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(221): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02027.hp1 HG02155.hp2 others(6): Show HG00099.hp1 HG02027.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp2 NA18946.hp1 NA18990.hp1 NA19004.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0141 a0001c0001t0001g0176 a0001c0001t0005g0053 a0001c0001t0008g0003 a0001c0001t0018g0156	9	396	0.0227	228	c.-76 others(237): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(221): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA18999.hp2 HG01106.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0294 a0001c0001t0001g0229 a0001c0001t0001g0294	2	426	0.0047	228	c.22 others(239): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(221): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	426	0.0024	228	c.22 others(239): Show c.2254_*2255insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RTN4IP1_chr6_106565771_106634498	106589238	G G	GGAGGAGG others(221): Show GGAGGAGGAGGGAGGGAGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAA GAGGAAGAAGAGGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGAAG AAGAAGGAGAAGAAGAAAGAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0123 a0001c0004t0003g0123	1	396	0.0025	228	c.807 others(245): Show c.807-1377_807-1376insTTCTTCTTCTCTTTCTTCTTCTCCTTCT TCTTCTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCC TTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCT CTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCC TCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(221): Show GCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCTCTCCTGGCCGCCCCCCC CACCCCATCCTCTCTCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCT TCCCTCTCTCTCGCTCCCCTCCCTCTCCCGGCCCCCCACCCCCATCCCTC TCCTCGCTCCCCTCCTCTCCTGGCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	228	c.48 others(239): Show c.4833_*4834insCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCTCT CCTGGCCGCCCCCCCCACCCCATCCTCTCTCTCGCTCCCCTCCCTCTCCT GGCCCCCCCACCCCTTCCCTCTCTCTCGCTCCCCTCCCTCTCCCGGCCCC CCACCCCCATCCCTCTCCTCGCTCCCCTCCTCTCCTGGCCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAT others(221): Show TCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGA CCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGAT CACCGGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGA CCTCAGACCCCAGACCCCAGACCCCAAACCTCAGACCCCAGATCCCAGAC CTCAGACCCCAGACCCCAGACTTCAGATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(47): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02647.hp2 HG02683.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG04115.hp2 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA20805.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0009 a0000c0042 a0001c0001 others(11): Show a0000c0009 a0000c0042 a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0034 a0001c0036 a0001c0040 a0002c0003 a0002c0008 a0003c0012 a0004c0039	a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 others(13): Show a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0009 a0001c0007t0001 a0001c0034t0001 a0001c0036t0001 a0001c0040t0001 a0002c0003t0001 a0002c0008t0001 a0003c0012t0002 a0004c0039t0001	a0000c0009t0001g0152 a0000c0009t0001g0168 a0000c0009t0001g0169 others(47): Show a0000c0009t0001g0152 a0000c0009t0001g0168 a0000c0009t0001g0169 a0000c0009t0001g0172 a0000c0009t0003g0171 a0000c0042t0001g0124 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0006t0001g0013 a0001c0006t0009g0012 a0001c0007t0001g0150 a0001c0034t0001g0148 a0001c0036t0001g0138 a0001c0040t0001g0139 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0161 a0002c0008t0001g0136 a0003c0012t0002g0178 a0004c0039t0001g0137	50	203	0.2463	228	c.-12 others(247): Show c.-127+8126_-127+8127insGATCTGAAGTCTGGGGTCTGGGGTCT GAGGTCTGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGGTCTGGGGTCTG AGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCCG GTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTG GGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTG GG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTA others(221): Show AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATT TATAAATACAGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0055 a0001c0002t0033g0055	1	332	0.0030	228	c.632 others(245): Show c.632+8312_632+8313insCTGTATTTATTTATAAATACAGTATTTA TTTATAAATACTGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C1_chr11_188078_199575	196510	C C	CTGGTGAG others(221): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01515.hp2 HG00099.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	354	0.0057	228	c.20 others(239): Show c.2060_*2061insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1936		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(221): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA18947.hp1 HG02080.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0015 a0001c0001t0001g0053	2	390	0.0051	228	c.48 others(239): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(221): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	390	0.0026	228	c.49 others(239): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4780		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(221): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGT TGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	290	0.0035	228	c.464 others(241): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288672	T T	TCTGCTCC others(221): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	228	c.166 others(245): Show c.1662+652_1662+653insTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCTGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288737	T T	TCCCCCGT others(221): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	290	0.0035	228	c.166 others(245): Show c.1662+703_1662+704insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43217032	C C	CGCCAGGT others(221): Show CGCCAGGTGTCACCTCTTTACCAACAGCTTCCCCCAACACTGCCGTCACC TCTTCTCTAACAGCTTCCCCCCACCCCGCCAGGTGTCACCTCTTTACCAA CAGCTTCCCCACCCCGCCAGGTGTCACCTCTTTTCCAACAGCTTCCCCCA ACACTGCCGTCACCTCTTCTCTAACAGCTTCCCCCCACCCCGCCAGGTGT CACCTCTTTACCAACAGCTTCCCCACCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0248 a0001c0008t0009g0248	1	280	0.0036	228	c.189 others(247): Show c.1891+1222_1891+1223insAGGGTGGGGAAGCTGTTGGTAAAGAG GTGACACCTGGCGGGGTGGGGGGAAGCTGTTAGAGAAGAGGTGACGGCAG TGTTGGGGGAAGCTGTTGGAAAAGAGGTGACACCTGGCGGGGTGGGGAAG CTGTTGGTAAAGAGGTGACACCTGGCGGGGTGGGGGGAAGCTGTTAGAGA AGAGGTGACGGCAGTGTTGGGGGAAGCTGTTGGTAAAGAGGTGACACCTG GC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	15/21			chr22	TogoVar
SCX_chr8_144261453_144273481	144262844	A A	ACCCCTCA others(221): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCAC CCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCCC ACCCCTCACCTGCAGGGTGCACTGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	228	c.-37 others(239): Show c.-3770_-3769insCCCCTCACCTGCAGGGTGCACCGCCCCCCCCCAC CCCTCACCTGCAGGGTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTG CACCGCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCAC CCCTCACCTGCAGGGTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTA CACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3608		chr8	TogoVar
SECTM1_chr17_82316024_82338766	82326896	G G	GCACCACC others(221): Show GCACCACCACCCTCCATCCACGGCGGGACACGGCCCACTCACCACCGCCC TCCACCCACGGCGGGACACGGCCCACTCACCACCGCCCTCCACCCACGGC GGGACACGGCCCACTCACCACCGCCCTCCACCCACGGCGGGACACGGCCC ACTCACCACCGCCCTCCACCCACGGCGGGACACGGCCCACTCACCACCGC CCTCCACCCACGGCGGGACACGGCCCACT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0020 a0002c0013t0020	a0002c0013t0020g0036 a0002c0013t0020g0036	1	374	0.0027	228	c.94+ others(241): Show c.94+250_94+251insAGTGGGCCGTGTCCCGCCGTGGGTGGAGGGCG GTGGTGAGTGGGCCGTGTCCCGCCGTGGGTGGAGGGCGGTGGTGAGTGGG CCGTGTCCCGCCGTGGGTGGAGGGCGGTGGTGAGTGGGCCGTGTCCCGCC GTGGGTGGAGGGCGGTGGTGAGTGGGCCGTGTCCCGCCGTGGGTGGAGGG CGGTGGTGAGTGGGCCGTGTCCCGCCGTGGATGGAGGGTGGTGGTG	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	2/4			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(221): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	324	0.0031	228	c.97 others(237): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTGCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(221): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp1 HG02572.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	324	0.0062	228	c.115 others(245): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATGGAATATATATATATATGGAATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(221): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATTCCATATA TATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	324	0.0031	228	c.115 others(245): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATATGGAATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGPP2_chr2_222419543_222567621	222556771	C C	CTCCTCCC others(221): Show CTCCTCCCCCTCCACCTTCACTCTTCCCCCCACTCCTCCCCCATCCACCC TCACTCCTCCCCCATCCACCCTCACTCCTCCCCATCCACCCTCACTCCTC CCCACCCACCCTCACTCCTCCCCCTCCACCTTCACTCTTCCCCCCACTCC TCCCCCATCCACCCTCACTCCTTCCCCATCCACCCTCACTCCTCCCCATC CACCCTCACTCCTCCCCATCCACCCTTAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19070.hp1 HG02132.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0048 a0001c0001t0013 a0001c0001t0048	a0001c0001t0013g0045 a0001c0001t0048g0113 a0001c0001t0013g0045 a0001c0001t0048g0113	2	272	0.0074	228	c.649 others(245): Show c.649-1568_649-1567insCTCCACCTTCACTCTTCCCCCCACTCCT CCCCCATCCACCCTCACTCCTCCCCCATCCACCCTCACTCCTCCCCATCC ACCCTCACTCCTCCCCACCCACCCTCACTCCTCCCCCTCCACCTTCACTC TTCCCCCCACTCCTCCCCCATCCACCCTCACTCCTTCCCCATCCACCCTC ACTCCTCCCCATCCACCCTCACTCCTCCCCATCCACCCTTAGTCCTCCCC	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	432286	C C	CGGGCAGA others(221): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	212	0.0047	228	c.111 others(247): Show c.1111-1540_1111-1539insCGCCTCCTCTATCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACTATCTCACTCACGATGAAGCGCCATCTGC CC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(221): Show TAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0012 a0009c0015t0012	a0009c0015t0012g0027 a0009c0015t0012g0027	1	212	0.0047	228	c.111 others(247): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCGGCCTCCTCTATCTCTCACTCACTATCTCACTCACGATGAAGCGCCAT CT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(221): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0080 a0001c0007t0002g0080	1	212	0.0047	228	c.111 others(247): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433759	C C	CGTGAGTG others(221): Show CGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGG GCAGATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0182 a0003c0008t0005g0182	1	212	0.0047	228	c.111 others(245): Show c.1110+949_1110+950insTATCTCACTCACGATGAAGCGCCATCTG CCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCA TCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATG AAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCAC TCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433848	T T	TAGATGGC others(221): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG06807.hp1 NA18906.hp1 HG03209.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024	3	212	0.0142	228	c.111 others(245): Show c.1110+860_1110+861insGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCT CTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCC CGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIMC1_chr5_176233424_176350989	176306403	T T	TCTCCTTC others(221): Show TCTCCTTCTCTCTCTCCCTCTGTTCTGGGCCACCCAGAGCTAGGGGGGTG GAGATACAAGCACCAATATGGCCATCACCACTGAGAATGTACTGGGTCAG ACATGAAGCTGGCACCACACTGGGGTCTCGCCATGGCCCACTGTAACCAT GATCTGGCTGCCTATGTTCCCTCAATGCCCTGTTGTGAAGCCAGCCAGGC TAGCTTCAAGCCAGTGAGTTCCCCCAGGC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	360	0.0028	228	c.173 others(247): Show c.1735-7288_1735-7287insCTCCTTCTCTCTCTCCCTCTGTTCTG GGCCACCCAGAGCTAGGGGGGTGGAGATACAAGCACCAATATGGCCATCA CCACTGAGAATGTACTGGGTCAGACATGAAGCTGGCACCACACTGGGGTC TCGCCATGGCCCACTGTAACCATGATCTGGCTGCCTATGTTCCCTCAATG CCCTGTTGTGAAGCCAGCCAGGCTAGCTTCAAGCCAGTGAGTTCCCCCAG GC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLC25A41_chr19_6421037_6438763	6429025	A A	ATATATAT others(221): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATAATATATATATTATATATATGTTATATATATATATAATATATATATTA TATATATGTTATATATATATATAATATATATATTATATATATGTTATATA TATATATAATATATATATTATATATATGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	350	0.0029	228	c.624 others(243): Show c.624+698_624+699insACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATATATAACATATATAT AATATATATATTATATATATATATAACATATATATAATATATATATTATA TATATATAACATATATATAATATATATATTATATATATATATAACATATA TATAATATATATATTATATATATATATAACATATATATAATATATATA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79912132	G G	GCAGCAGA others(221): Show GCAGCAGAGAGGGGACGGGAGCAGAGGGGACAGGAGCAGTGAGGAGACGG GAGCAGAGGGGAGGCAGCAGGGAGAGGACAGCAGCAGGAAGGGGACAGGA GCAGGGAGGGGAACAGTAGCAGGAGGGGATGGCAGCAGGGAGGGGACAGG AGCAGGAAGGGGACAGGAGTGGGGGGGACGGGAGCAGGGAGGGAGTGGGA GCAGGGAGGGGACGGCAGCAGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0193 a0001c0001t0008g0193	1	352	0.0028	228	c.608 others(245): Show c.608+7051_608+7052insTCCCCTCCCTGCTGCCGTCCCCTCCCTG CTCCCACTCCCTCCCTGCTCCCGTCCCCCCCACTCCTGTCCCCTTCCTGC TCCTGTCCCCTCCCTGCTGCCATCCCCTCCTGCTACTGTTCCCCTCCCTG CTCCTGTCCCCTTCCTGCTGCTGTCCTCTCCCTGCTGCCTCCCCTCTGCT CCCGTCTCCTCACTGCTCCTGTCCCCTCTGCTCCCGTCCCCTCTCTGCTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC6A3_chr5_1387794_1450440	1414392	A A	ACTGGGTG others(221): Show ACTGGGTGGGGGGCCTGGAGGCACAAGGCAGGAAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTC AGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCAGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0353 a0001c0002t0020g0353	1	373	0.0027	228	c.115 others(245): Show c.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCC TGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTTCCTGCCTTGTGCCTCCAGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(221): Show GGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGGCCTGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCG GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTG GGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCG GGAGGGGCAGGGCGGAGAAGGCACTGGGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0283 a0001c0002t0003g0283	1	373	0.0027	228	c.115 others(245): Show c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGCCCCTC CCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCCCGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414446	G G	GGGAGGGG others(221): Show GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	373	0.0027	228	c.115 others(245): Show c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCA GTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414446	G G	GGGAGGGT others(221): Show GGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCA GGGCGGGGAAGGCACTGGGTGGGGGGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0262 a0001c0001t0031g0262	1	373	0.0027	228	c.115 others(245): Show c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCC CTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414507	G G	GCTGGGTG others(221): Show GCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG GCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGAAGGGAAGGCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0228 a0001c0002t0007g0228	1	373	0.0027	228	c.115 others(245): Show c.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGG CCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218683	T T	TTCTTTCT others(221): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	410	0.0024	228	c.152 others(245): Show c.152-2711_152-2710insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(221): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATATAAATATATATATATTTATATATA TATAAATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0104 a0001c0001t0122g0104	1	236	0.0042	228	c.180 others(249): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT TTATATATATATAAATATATATATATTTATATATATATATAAATATATAT ATATATTTATATATATATATAAATATATATATATATTTATATATATATAT AAATATATATATATATTTATATATATATATAAATATATATATATATTTAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(221): Show TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0226 a0001c0001t0109g0226	1	310	0.0032	228	c.784 others(243): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATAATATATAATATATATTATACATAATATATATAATATATAT ATAATATATAATATATATTATACATAATATATATAATATATATATAATAT ATAATATATATTATACATAATATATATAATATATATATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(221): Show TATTATATATTATATATATATTGTATATATTATGTATAATATATATTATA TATTATATATATATTGTATATATTATGTATAATATATATTATATATTATA TATATATTGTATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0187 a0001c0001t0019g0187	1	310	0.0032	228	c.784 others(243): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATAATATATAATATATATTATACATAATATATACAATATATAT ATAATATATAATATATATTATACATAATATATACAATATATATATAATAT ATAATATATATTATACATAATATATACAATATATATATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(221): Show TATTATATATTATATATATATTGTATATATTATGTATAATATATATTATA TATTATATATATATTGTATATATTATGTATAATATATATTATATATTATA TATATATTGTATATATTATGTATAATATATATTATATATTATATATATAT TGTATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0180 a0001c0001t0114g0180	1	310	0.0032	228	c.784 others(243): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATACAA TATATATATAATATATAATATATATTATACATAATATATACAATATATAT ATAATATATAATATATATTATACATAATATATACAATATATATATAATAT ATAATATATATTATACATAATATATACAATATATATATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(221): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCT GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG03225.hp1 HG00597.hp2 HG02132.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0002g0085 a0001c0002t0002g0070 a0002c0003t0001g0111 a0001c0001t0002g0085 a0001c0002t0002g0070 a0002c0003t0001g0111	3	150	0.0200	228	c.532 others(249): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072211	A A	ACTGTGCT others(221): Show ACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGA TTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGG GGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTCGCTGCATCCTGTTA GTTCTGGGGAGGGATTCGTGTGCTTTCCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0131 a0002c0003t0002g0131	1	150	0.0067	228	c.532 others(249): Show c.532-142275_532-142274insCGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGATGCAGCGACAGTGAGCACAGTGGAAAGCACATGAATC CCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCAC ACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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