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
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(36): Show GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0024 a0004c0005t0002g0024	1	227	0.0044	43	c.166 others(60): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCT others(36): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	239	0.0042	43	c.166 others(60): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23181661	G G	GGAGGGAG others(36): Show GGAGGGAGGAAGGAAGAAAGGGAGAGAGAGAAAGAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02559.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0030 a0002c0006t0007g0031 a0002c0006t0007g0030 a0002c0006t0007g0031	2	318	0.0063	43	c.-11 others(54): Show c.-1197_-1196insGAGGGAGGAAGGAAGAAAGGGAGAGAGAGAAAGA AGAAAGAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		1083		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23218096	A A	AATATATT others(36): Show AATATATTATATTATATTTTATTTTATTTTATATATATTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	266	0.0075	43	c.26 others(54): Show c.2627_*2628insATATATTATATTATATTTTATTTTATTTTATATA TATTATATT	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		1214		chr16	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02056.hp2 NA18975.hp1 others(2): Show HG01928.hp2 HG02056.hp2 NA18975.hp1 NA19002.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0005t0003	a0001c0001t0001g0205 a0001c0003t0001g0265 a0001c0003t0001g0266 others(2): Show a0001c0001t0001g0205 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0002g0311 a0002c0005t0003g0162	5	78	0.0641	43	c.61- others(60): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	3	0.3333	43	c.-19 others(54): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(36): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	62	0.0161	43	c.-48 others(54): Show c.-4854_-4853insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(36): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01516.hp1 HG01167.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	63	0.0317	43	c.-48 others(54): Show c.-4854_-4853insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	56	0.0179	43	c.180 others(58): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACACAG others(36): Show CCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0037 a0005c0065t0037	a0005c0065t0037g0065 a0005c0065t0037g0065	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACACAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACACAG others(36): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0025 a0025	a0025c0081 a0025c0081	a0025c0081t0008 a0025c0081t0008	a0025c0081t0008g0075 a0025c0081t0008g0075	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0015 a0002c0013t0015	a0002c0013t0015g0024 a0002c0013t0015g0024	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGAGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01934.hp1 HG03225.hp1 others(2): Show HG01175.hp2 HG01934.hp1 HG03225.hp1 HG03710.hp1 NA18906.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0032	a0001c0062 a0001c0088 a0003c0033 others(2): Show a0001c0062 a0001c0088 a0003c0033 a0007c0006 a0032c0075	a0001c0062t0053 a0001c0088t0009 a0003c0033t0002 others(2): Show a0001c0062t0053 a0001c0088t0009 a0003c0033t0002 a0007c0006t0001 a0032c0075t0008	a0001c0062t0053g0042 a0001c0088t0009g0048 a0003c0033t0002g0103 others(2): Show a0001c0062t0053g0042 a0001c0088t0009g0048 a0003c0033t0002g0103 a0007c0006t0001g0036 a0032c0075t0008g0015	5	67	0.0746	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG02647.hp1 others(1): Show HG01081.hp2 HG01175.hp1 HG02647.hp1 NA19043.hp1	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0004 a0001c0010 a0010c0079 others(1): Show a0001c0004 a0001c0010 a0010c0079 a0013c0070	a0001c0004t0001 a0001c0010t0060 a0010c0079t0054 others(1): Show a0001c0004t0001 a0001c0010t0060 a0010c0079t0054 a0013c0070t0026	a0001c0004t0001g0039 a0001c0010t0060g0017 a0010c0079t0054g0071 others(1): Show a0001c0004t0001g0039 a0001c0010t0060g0017 a0010c0079t0054g0071 a0013c0070t0026g0112	4	66	0.0606	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(36): Show CCACGCAGGGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0058 a0001c0032t0058	a0001c0032t0058g0043 a0001c0032t0058g0043	1	63	0.0159	43	c.199 others(62): Show c.1994+2071_1994+2072insCACGCAGGGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACACAG others(36): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG01175.hp1 HG01891.hp2	a0005 a0010 a0005 a0010	a0005c0065 a0010c0079 a0005c0065 a0010c0079	a0005c0065t0037 a0010c0079t0054 a0005c0065t0037 a0010c0079t0054	a0005c0065t0037g0065 a0010c0079t0054g0071 a0005c0065t0037g0065 a0010c0079t0054g0071	2	63	0.0317	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0036 a0007c0006t0001g0036	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0010 a0001c0091t0010	a0001c0091t0010g0055 a0001c0091t0010g0055	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0062 a0001c0014t0018g0062	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGATCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0034 a0001c0088 a0001c0034 a0001c0088	a0001c0034t0028 a0001c0088t0009 a0001c0034t0028 a0001c0088t0009	a0001c0034t0028g0098 a0001c0088t0009g0048 a0001c0034t0028g0098 a0001c0088t0009g0048	2	63	0.0317	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG04228.hp2 HG00738.hp1 HG01516.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0029 a0002c0054 a0001c0008 a0002c0029 a0002c0054	a0001c0008t0004 a0002c0029t0005 a0002c0054t0002 a0001c0008t0004 a0002c0029t0005 a0002c0054t0002	a0001c0008t0004g0095 a0002c0029t0005g0094 a0002c0054t0002g0101 a0001c0008t0004g0095 a0002c0029t0005g0094 a0002c0054t0002g0101	3	64	0.0469	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp1 HG02258.hp2 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0049 a0001c0017 a0001c0049	a0001c0017t0011 a0001c0049t0036 a0001c0017t0011 a0001c0049t0036	a0001c0017t0011g0052 a0001c0049t0036g0109 a0001c0017t0011g0052 a0001c0049t0036g0109	2	63	0.0317	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01099.hp1 others(10): Show HG00639.hp1 HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01361.hp1 HG02602.hp2 HG02735.hp1 HG02809.hp1 HG03041.hp1 HG03195.hp2 HG03516.hp1 NA19030.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0017 a0025 a0027 a0033	a0001c0002 a0001c0008 a0001c0010 others(9): Show a0001c0002 a0001c0008 a0001c0010 a0001c0038 a0002c0009 a0002c0090 a0004c0003 a0006c0016 a0017c0035 a0025c0081 a0027c0089 a0033c0051	a0001c0002t0002 a0001c0008t0007 a0001c0010t0002 others(10): Show a0001c0002t0002 a0001c0008t0007 a0001c0010t0002 a0001c0038t0013 a0002c0009t0004 a0002c0009t0056 a0002c0090t0010 a0004c0003t0052 a0006c0016t0003 a0017c0035t0005 a0025c0081t0008 a0027c0089t0047 a0033c0051t0062	a0001c0002t0002g0096 a0001c0008t0007g0067 a0001c0010t0002g0085 others(10): Show a0001c0002t0002g0096 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0038t0013g0038 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0090t0010g0047 a0004c0003t0052g0069 a0006c0016t0003g0068 a0017c0035t0005g0058 a0025c0081t0008g0075 a0027c0089t0047g0056 a0033c0051t0062g0019	13	74	0.1757	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG02717.hp2 others(1): Show HG01123.hp2 HG01934.hp2 HG02717.hp2 HG03688.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0095 a0003c0047 a0005c0056 others(1): Show a0001c0095 a0003c0047 a0005c0056 a0006c0077	a0001c0095t0029 a0003c0047t0038 a0005c0056t0006 others(1): Show a0001c0095t0029 a0003c0047t0038 a0005c0056t0006 a0006c0077t0003	a0001c0095t0029g0050 a0003c0047t0038g0082 a0005c0056t0006g0097 others(1): Show a0001c0095t0029g0050 a0003c0047t0038g0082 a0005c0056t0006g0097 a0006c0077t0003g0099	4	65	0.0615	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGGGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGGGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(36): Show CCACGCAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCACGCAGGGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCATGCAG others(36): Show CCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0005 a0005	a0005c0055 a0005c0055	a0005c0055t0055 a0005c0055t0055	a0005c0055t0055g0021 a0005c0055t0055g0021	1	62	0.0161	43	c.199 others(62): Show c.1994+2130_1994+2131insCATGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(36): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG00639.hp2 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0091 a0001c0007 a0001c0091	a0001c0007t0003 a0001c0091t0010 a0001c0007t0003 a0001c0091t0010	a0001c0007t0003g0032 a0001c0091t0010g0055 a0001c0007t0003g0032 a0001c0091t0010g0055	2	49	0.0408	43	c.199 others(62): Show c.1994+2495_1994+2496insCACGCAGAGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0036 a0001c0049t0036	a0001c0049t0036g0109 a0001c0049t0036g0109	1	48	0.0208	43	c.199 others(62): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01243.hp2 others(4): Show HG01167.hp2 HG01175.hp2 HG01243.hp2 HG02965.hp1 HG03041.hp2 HG03471.hp1 NA19030.hp2	a0001 a0003 a0016 others(2): Show a0001 a0003 a0016 a0024 a0033	a0001c0038 a0001c0040 a0001c0061 others(4): Show a0001c0038 a0001c0040 a0001c0061 a0003c0033 a0016c0045 a0024c0023 a0033c0051	a0001c0038t0013 a0001c0040t0001 a0001c0061t0031 others(4): Show a0001c0038t0013 a0001c0040t0001 a0001c0061t0031 a0003c0033t0002 a0016c0045t0015 a0024c0023t0030 a0033c0051t0062	a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0061t0031g0100 others(4): Show a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0061t0031g0100 a0003c0033t0002g0103 a0016c0045t0015g0046 a0024c0023t0030g0113 a0033c0051t0062g0019	7	54	0.1296	43	c.199 others(62): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0029 a0001c0048t0001g0029	1	48	0.0208	43	c.199 others(62): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(36): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0074 a0015c0074	a0015c0074t0042 a0015c0074t0042	a0015c0074t0042g0081 a0015c0074t0042g0081	1	67	0.0149	43	c.199 others(62): Show c.1994+2656_1994+2657insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(36): Show CCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0093 a0002c0009t0004g0093	1	67	0.0149	43	c.199 others(62): Show c.1994+2656_1994+2657insCACGCAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp2 HG02559.hp1 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0091 a0001c0048 a0001c0091	a0001c0048t0001 a0001c0091t0010 a0001c0048t0001 a0001c0091t0010	a0001c0048t0001g0029 a0001c0091t0010g0055 a0001c0048t0001g0029 a0001c0091t0010g0055	2	68	0.0294	43	c.199 others(62): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp2 HG02809.hp1 NA20129.hp2	a0001 a0035 a0001 a0035	a0001c0008 a0035c0073 a0001c0008 a0035c0073	a0001c0008t0007 a0035c0073t0001 a0001c0008t0007 a0035c0073t0001	a0001c0008t0007g0067 a0035c0073t0001g0016 a0001c0008t0007g0067 a0035c0073t0001g0016	2	68	0.0294	43	c.199 others(62): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(36): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03471.hp1 HG01243.hp2 HG03471.hp1	a0001 a0016 a0001 a0016	a0001c0040 a0016c0045 a0001c0040 a0016c0045	a0001c0040t0001 a0016c0045t0015 a0001c0040t0001 a0016c0045t0015	a0001c0040t0001g0040 a0016c0045t0015g0046 a0001c0040t0001g0040 a0016c0045t0015g0046	2	97	0.0206	43	c.199 others(62): Show c.1994+2715_1994+2716insCACGCAGAGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	96	0.0104	43	c.199 others(62): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(36): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0031 a0001c0061t0031	a0001c0061t0031g0100 a0001c0061t0031g0100	1	96	0.0104	43	c.199 others(62): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(36): Show ATATATATATATATGTATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0157 a0001c0018t0008g0157	1	52	0.0192	43	c.559 others(62): Show c.5594-2538_5594-2537insAAAAAAAAATATATATATATATATAT ATACATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(36): Show GAGAAGAAGAAGAAGAAGAGAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	50	0.0200	43	c.11 others(54): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTCTCTTCTTCT TCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848503	G G	GAAGAAGA others(36): Show GAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	319	0.0031	43	c.98 others(52): Show c.981_*982insTCTTCTTCTTCTTCTTCTTCTCCTGCTTCTGCTTCT TCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		743		chr20	TogoVar
SEMA3E_chr7_83358238_83654139	83617497	T T	TAATTTTA others(36): Show TAATTTTATATAAATTTTATATAAATAATATATAATTTTATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0051 a0002c0004t0051	a0002c0004t0051g0137 a0002c0004t0051g0137	1	206	0.0049	43	c.115 others(62): Show c.115+30930_115+30931insTATATAAAATTATATATTATTTATAT AAAATTTATATAAAATT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SENP2_chr3_185581295_185638551	185631449	C C	CTCCCCCC others(36): Show CTCCCCCCCCCTCCCTCCCCCTCCCCTCCCCCCACCCCCACTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0150 a0001c0001t0121g0150	1	357	0.0028	43	c.16 others(54): Show c.1605_*1606insTCCCCCCCCCTCCCTCCCCCTCCCCTCCCCCCAC CCCCACTCA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1606		chr3	TogoVar
SEPTIN11_chr4_76944752_77043615	76952115	T T	TGGGGGGG others(36): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	368	0.0027	43	c.27+ others(58): Show c.27+2188_27+2189insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGG	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55853413	A A	ATAAGCAA others(36): Show ATAAGCAAGTCATGGAAAGACAAACTTCACATGTTCTCACTTAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	388	0.0026	43	c.55- others(58): Show c.55-6819_55-6777dupGTAAGTGAGAACATGTGAAGTTTGTCTTTC CATGACTTGCTTA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	2/9			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169402	T T	TTATATAT others(36): Show TTATATATTATATATAATATGTATATTATATATTATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01069.hp2 others(14): Show HG00408.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG02155.hp1 HG03927.hp1 NA18956.hp1 NA18961.hp2 NA18971.hp1 NA18983.hp1 NA19056.hp2 NA19057.hp2 NA19072.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0141	17	306	0.0556	43	c.-12 others(54): Show c.-1265_-1264insTATTATATATAATATATAATATACATATTATATA TAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1141		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	95	0.0105	43	c.92 others(54): Show c.9279_*9280insATATATATATATATATATATATATATATATATAT ATATTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar

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