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
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	306	0.0033	30	c.61- others(47): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTG TT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp1 HG03669.hp1 HG01175.hp2 HG03239.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0119 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0119	3	24	0.1250	30	c.675 others(47): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327259	A A	ATAAAATT others(23): Show ATAAAATTATAATTTATAATTTTATAGAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	129	0.0078	30	c.106 others(49): Show c.1069-3237_1069-3208dupTATAATTTTATAGAAATTAAAATTAT AATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327418	A A	ATAGAAAT others(23): Show ATAGAAATTAAAATTATAATTTATAATTTTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0160 a0002c0003t0001g0160	1	186	0.0054	30	c.106 others(49): Show c.1069-3117_1069-3116insATTAAAATTATAATTTATAATTTTGT AGAA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327466	A A	ATTATAAT others(23): Show ATTATAATTTTGTAGAAATTAAAATTATAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19068.hp1 HG01167.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0120 a0002c0003t0001g0147 a0001c0001t0002g0120 a0002c0003t0001g0147	2	167	0.0120	30	c.106 others(49): Show c.1069-3013_1069-2984dupTTATAATTTTGTAGAAATTAAAATTA TAAT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2L1_chr22_21637302_21649299	21639255	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	345	0.0029	30	c.-30 others(41): Show c.-3082_-3081insAAAACAAAACAAAACAAAACAAAACAAAAC	SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding		3046		chr22	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG02145.hp1 others(3): Show HG00408.hp1 HG00609.hp2 HG02145.hp1 HG03225.hp2 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129	6	8	0.7500	30	c.-19 others(41): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG03225.hp1 others(1): Show HG02922.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0249 a0001c0002t0001g0002 a0001c0002t0001g0249	4	39	0.1026	30	c.26 others(41): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHA_chr5_213320_262082	257672	A A	ACCCCCTG others(23): Show ACCCCCTGCCAGAGCATTACTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	260	0.0038	30	c.12 others(41): Show c.1252_*1253insCCCCCTGCCAGAGCATTACTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		591		chr5	TogoVar
SDHA_chr5_213320_262082	258218	A A	ACTGTGAG others(23): Show ACTGTGAGTTCCTTCTCCTCTCAGAGCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	30	c.17 others(41): Show c.1798_*1799insCTGTGAGTTCCTTCTCCTCTCAGAGCCTTG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1137		chr5	TogoVar
SDHA_chr5_213320_262082	260785	G G	GCATTACT others(23): Show GCATTACTGTGTGAGCTCCGCCTCCCGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02165.hp1 NA18965.hp1 HG01943.hp1 HG02165.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0149 a0001c0002t0001g0173 a0001c0002t0001g0022 a0001c0002t0001g0149 a0001c0002t0001g0173	3	249	0.0120	30	c.43 others(41): Show c.4365_*4366insCATTACTGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3704		chr5	TogoVar
SDHA_chr5_213320_262082	261646	A A	AGAGCATT others(23): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01943.hp1 HG02074.hp1 others(6): Show HG01109.hp2 HG01943.hp1 HG02074.hp1 HG02165.hp1 HG02293.hp2 HG03710.hp1 NA18612.hp2 NA18990.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0087 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0087 a0001c0002t0001g0149 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0007t0001g0153 a0001c0007t0001g0161	9	227	0.0396	30	c.52 others(41): Show c.5226_*5227insGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4565		chr5	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18945.hp1 NA18945.hp2 HG04184.hp2 NA18945.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0145	3	58	0.0517	30	c.180 others(45): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0102 a0001c0004t0005g0102	1	32	0.0313	30	c.298 others(49): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582030	T T	TCTGTCTC others(23): Show TCTGTCTCAGGTAGGTCTCCCTCAGGTAGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(8): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG02145.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03491.hp2 HG03688.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0015 a0016 a0017	a0001c0002 a0001c0008 a0001c0060 others(8): Show a0001c0002 a0001c0008 a0001c0060 a0002c0030 a0002c0041 a0002c0043 a0002c0066 a0003c0047 a0015c0074 a0016c0045 a0017c0035	a0001c0002t0040 a0001c0008t0007 a0001c0060t0041 others(8): Show a0001c0002t0040 a0001c0008t0007 a0001c0060t0041 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0002c0066t0023 a0003c0047t0038 a0015c0074t0042 a0016c0045t0015 a0017c0035t0005	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0060t0041g0080 others(8): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0060t0041g0080 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0066t0023g0088 a0003c0047t0038g0082 a0015c0074t0042g0081 a0016c0045t0015g0046 a0017c0035t0005g0058	11	106	0.1038	30	c.299 others(49): Show c.299-36912_299-36883dupCCCTCAGGTAGGCCTGTCTCAGGTAG GTCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723681	T T	TACGTGTA others(23): Show TACGTGTATATACACGTACATATACATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03688.hp2 HG02809.hp2 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0003c0047 a0001c0011 a0003c0047	a0001c0011t0008 a0003c0047t0038 a0001c0011t0008 a0003c0047t0038	a0001c0011t0008g0028 a0003c0047t0038g0082 a0001c0011t0008g0028 a0003c0047t0038g0082	2	112	0.0179	30	c.713 others(49): Show c.713+81655_713+81684dupATATACATATACACGTGTATATACAC GTAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723820	A A	ATATACAT others(23): Show ATATACATATACACGTGTATATACACGTACT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	116	0.0086	30	c.713 others(49): Show c.713+81744_713+81745insTTATACATATACACGTGTATATACAC GTAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723857	T T	TATACACG others(23): Show TATACACGTGTATATACACGTACATATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG01516.hp2 HG02602.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0001 a0001c0005 a0003c0001	a0001c0005t0001 a0003c0001t0059 a0001c0005t0001 a0003c0001t0059	a0001c0005t0001g0025 a0003c0001t0059g0026 a0001c0005t0001g0025 a0003c0001t0059g0026	2	107	0.0187	30	c.713 others(49): Show c.713+81779_713+81780insCACATACACGTGTATATACACGTACA TATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074916	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0035 a0035	a0035c0073 a0035c0073	a0035c0073t0001 a0035c0073t0001	a0035c0073t0001g0016 a0035c0073t0001g0016	1	67	0.0149	30	c.301 others(49): Show c.3011-2081_3011-2080insATATATATATATATTTTTTTTTTTTT TTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4128877	G G	GCCCTGGA others(23): Show GCCCTGGAGGAGAGCAGCTTGGGGTGGGGTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp1 HG02602.hp1 others(5): Show HG01167.hp2 HG02451.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03098.hp2 NA20129.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0018	a0001c0005 a0001c0037 a0001c0038 others(4): Show a0001c0005 a0001c0037 a0001c0038 a0001c0039 a0002c0043 a0011c0021 a0018c0024	a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 others(5): Show a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 a0001c0038t0013 a0001c0039t0050 a0002c0043t0035 a0011c0021t0073 a0018c0024t0061	a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0037t0002g0077 others(5): Show a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0037t0002g0077 a0001c0038t0013g0038 a0001c0039t0050g0022 a0002c0043t0035g0079 a0011c0021t0073g0007 a0018c0024t0061g0013	8	116	0.0690	30	c.394 others(47): Show c.3940-941_3940-912dupCCCCTGGAGGAGAGCAGCTTGGGGTGGG GT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263780	G G	GGGGGAGG others(23): Show GGGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	99	0.0101	30	c.638 others(49): Show c.6382-1341_6382-1340insGAGGCCGCGTAGACCTCTCCTGAGTG AGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264582	G G	GAGGGAGG others(23): Show GAGGGAGGCCGCGTGGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp1 others(9): Show HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0019 a0021 a0022 a0025	a0001c0011 a0001c0025 a0001c0037 others(8): Show a0001c0011 a0001c0025 a0001c0037 a0001c0060 a0001c0067 a0002c0013 a0004c0080 a0019c0050 a0021c0068 a0022c0094 a0025c0081	a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 others(9): Show a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 a0001c0037t0002 a0001c0060t0041 a0001c0067t0068 a0002c0013t0064 a0004c0080t0014 a0019c0050t0019 a0021c0068t0014 a0022c0094t0025 a0025c0081t0008	a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0089 others(9): Show a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0089 a0001c0037t0002g0077 a0001c0060t0041g0080 a0001c0067t0068g0001 a0002c0013t0064g0023 a0004c0080t0014g0078 a0019c0050t0019g0092 a0021c0068t0014g0014 a0022c0094t0025g0049 a0025c0081t0008g0075	12	85	0.1412	30	c.638 others(47): Show c.6382-542_6382-541insAGGGAGGCCGCGTGGACCTCTCCTGAGT GA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02083.hp1 NA18948.hp2 HG00280.hp1 HG02083.hp1 NA18948.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0048 a0006c0097 a0001c0001 a0001c0048 a0006c0097	a0001c0001t0032 a0001c0048t0073 a0006c0097t0070 a0001c0001t0032 a0001c0048t0073 a0006c0097t0070	a0001c0001t0032g0001 a0001c0048t0073g0109 a0006c0097t0070g0049 a0001c0001t0032g0001 a0001c0048t0073g0109 a0006c0097t0070g0049	3	174	0.0172	30	c.559 others(49): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0146 a0001c0005t0048g0146	1	52	0.0192	30	c.559 others(49): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03516.hp2 NA18961.hp2 HG02258.hp2 HG03516.hp2 NA18961.hp2	a0001 a0008 a0001 a0008	a0001c0024 a0001c0053 a0008c0044 a0001c0024 a0001c0053 a0008c0044	a0001c0024t0006 a0001c0053t0022 a0008c0044t0023 a0001c0024t0006 a0001c0053t0022 a0008c0044t0023	a0001c0024t0006g0152 a0001c0053t0022g0040 a0008c0044t0023g0069 a0001c0024t0006g0152 a0001c0053t0022g0040 a0008c0044t0023g0069	3	54	0.0556	30	c.559 others(49): Show c.5594-2538_5594-2537insAAAAAAAAAAAATATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19030.hp2 HG02071.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0054 a0001c0002 a0004c0054	a0001c0002t0004 a0004c0054t0022 a0001c0002t0004 a0004c0054t0022	a0001c0002t0004g0039 a0004c0054t0022g0085 a0001c0002t0004g0039 a0004c0054t0022g0085	2	53	0.0377	30	c.559 others(49): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73411957	T T	TATATATA others(23): Show TATATATATATATACGTATATATATATCTAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18948.hp2 NA18990.hp2 HG00558.hp2 NA18948.hp2 NA18990.hp2	a0006 a0009 a0006 a0009	a0006c0056 a0006c0097 a0009c0113 a0006c0056 a0006c0097 a0009c0113	a0006c0056t0002 a0006c0097t0070 a0009c0113t0064 a0006c0056t0002 a0006c0097t0070 a0009c0113t0064	a0006c0056t0002g0163 a0006c0097t0070g0049 a0009c0113t0064g0023 a0006c0056t0002g0163 a0006c0097t0070g0049 a0009c0113t0064g0023	3	202	0.0149	30	c.248 others(49): Show c.2484+2686_2484+2687insGTAGATATATATATACGTATATATAT ATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02145.hp1 others(2): Show HG02027.hp2 HG02071.hp1 HG02145.hp1 NA19043.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0001c0001t0009 a0008c0014t0001 a0001c0001t0001 a0001c0001t0009 a0008c0014t0001	a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0009g0205 a0008c0014t0001g0132	5	164	0.0305	30	c.589 others(47): Show c.589+1573_589+1574insATATATATATATATATATATATATATAT AT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02809.hp2 NA18985.hp2 HG02135.hp1 HG02809.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0076 a0001c0001t0002g0121 a0001c0001t0004g0074 a0001c0001t0002g0076 a0001c0001t0002g0121 a0001c0001t0004g0074	3	244	0.0123	30	c.183 others(47): Show c.183-2679_183-2678insTATATATATATATATATATATATATATA TA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0109 a0001c0002t0004g0110	2	114	0.0175	30	c.116 others(49): Show c.1165+1223_1165+1224insCACACACACACACACACACACACACA CATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(23): Show CACACACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03834.hp2 HG01258.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0101 a0001c0002t0004g0102	2	114	0.0175	30	c.116 others(49): Show c.1165+1223_1165+1224insCACACACACACACACATACACACACA CATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483044	G G	GTATTTAT others(23): Show GTATTTATGTATTTATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02723.hp1 others(6): Show HG01884.hp2 HG02615.hp2 HG02723.hp1 HG02922.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(6): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0113 a0001c0001t0010g0070	9	161	0.0559	30	c.116 others(49): Show c.1165+1288_1165+1289insGTATTTATTTATGTATTTATATATAT ATAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	101	0.0099	30	c.802 others(47): Show c.802-4150_802-4121dupCACACACACACACACACACACACACACA CA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02698.hp1 NA19086.hp2 HG01256.hp2 HG02698.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0002t0001g0259 a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0002t0001g0259	3	38	0.0789	30	c.296 others(47): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841465	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	313	0.0032	30	c.296 others(47): Show c.2968+674_2968+675insGTATATATATATATATATATATATATAT AT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841467	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	302	0.0033	30	c.296 others(47): Show c.2968+672_2968+673insGTATATATATATATATATATATATATAT AT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(23): Show ATATATATATATACGCGTATATATATACGCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	215	0.0047	30	c.-5+ others(45): Show c.-5+2701_-5+2702insCGCGTATATATATACGCGTATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(23): Show ATATATATATATATGCGTATATATATACGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02647.hp2 others(3): Show HG01243.hp1 HG01884.hp1 HG02647.hp2 HG02723.hp1 HG03139.hp2 HG03209.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0005 a0004c0013 a0010c0011 a0001c0005 a0004c0013 a0010c0011	a0001c0005t0001 a0004c0013t0001 a0010c0011t0001 a0001c0005t0001 a0004c0013t0001 a0010c0011t0001	a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 others(3): Show a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0004c0013t0001g0309 a0010c0011t0001g0310	6	220	0.0273	30	c.-5+ others(45): Show c.-5+2701_-5+2702insCGCGTATATATATACGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	30	c.-18 others(41): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863571	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGCGCGCGCGCGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	63	0.0159	30	c.81 others(41): Show c.8132_*8133insACACACACACGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4184		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0139 a0002c0002t0004g0139	1	140	0.0071	30	c.186 others(47): Show c.1865-776_1865-747dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01891.hp2 HG02071.hp2 others(1): Show HG00099.hp2 HG01891.hp2 HG02071.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0283 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0300	4	192	0.0208	30	c.11 others(41): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03831.hp2 others(2): Show HG03041.hp1 HG03195.hp2 HG03831.hp2 NA19087.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0002 a0001c0001t0001 a0007c0010t0002	a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0220 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0220 a0001c0001t0001g0238 a0007c0010t0002g0035	5	54	0.0926	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	50	0.0200	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(23): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03471.hp1 NA19240.hp1 HG02258.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133	3	52	0.0577	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848355	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	320	0.0031	30	c.11 others(41): Show c.1129_*1130insACTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		891		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848356	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0060 a0001c0001t0002g0061	2	318	0.0063	30	c.11 others(41): Show c.1128_*1129insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		890		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18957.hp2 NA18990.hp1 others(2): Show HG02165.hp2 NA18957.hp2 NA18990.hp1 NA19001.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0222 a0002c0002t0003g0260 others(2): Show a0002c0002t0003g0168 a0002c0002t0003g0222 a0002c0002t0003g0260 a0002c0002t0003g0280 a0002c0002t0003g0282	5	289	0.0173	30	c.11 others(41): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	248	0.0040	30	c.115 others(47): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04184.hp2 NA18942.hp1 others(2): Show HG03927.hp1 HG04184.hp2 NA18942.hp1 NA18949.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0044 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0068 a0001c0001t0002g0069	5	15	0.3333	30	c.115 others(47): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar

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