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	1289966	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp1 NA18964.hp1 others(5): Show HG00621.hp2 HG03688.hp1 NA18964.hp1 NA18983.hp1 NA18998.hp1 NA19005.hp2 NA19057.hp1 NA19088.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0004 a0009c0014 a0002c0002 a0003c0004 a0009c0014	a0002c0002t0001 a0003c0004t0003 a0009c0014t0001 a0002c0002t0001 a0003c0004t0003 a0009c0014t0001	a0002c0002t0001g0021 a0002c0002t0001g0034 a0002c0002t0001g0056 others(5): Show a0002c0002t0001g0021 a0002c0002t0001g0034 a0002c0002t0001g0056 a0002c0002t0001g0079 a0003c0004t0003g0141 a0003c0004t0003g0151 a0003c0004t0003g0154 a0009c0014t0001g0052	8	280	0.0286	-52	c.166 others(69): Show c.1663-295_1663-244delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444759	ACGTACGA others(45): Show ACGTACGAATATATATACACATATATACGTACGAATATATATACACATAT ATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	275	0.0036	-52	c.114 others(71): Show c.1140+1948_1140+1999delAATATATGTGTATATATATTCGTACG TATATATGTGTATATATATTCGTACG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	631908	CCTCCCAA others(45): Show CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAACCCGGCCATTT GGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-52	c.-48 others(63): Show c.-4817_-4766delCCCAAATGGCCGGGTTCAGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		4728		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281503	ACCTCCTC others(45): Show ACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCAGTCACCCTCCTGTC ACC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	273	0.0037	-52	c.484 others(69): Show c.484+9491_484+9542delGGTGACAGGAGGGTGACTGAGGGAGGTG ACAGGAGGGTGGCTGAGGAGGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3676121	ACACCTGG others(45): Show ACACCTGGCTAAATTTTGTATTTTTTTGTGGAGACGGGGTCTCACTATGT TGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	116	0.0086	-52	c.713 others(71): Show c.713+34070_713+34121delACCTGGCTAAATTTTGTATTTTTTTG TGGAGACGGGGTCTCACTATGTTGCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412050	ATACGTAT others(45): Show ATACGTATATGTATATATACGTATATATGTATATGTATATATACGTATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(52): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18961.hp1 NA18993.hp1 NA19010.hp2 NA19080.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0015 a0018 a0019 a0020	a0001c0002 a0001c0003 a0001c0005 others(32): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0032 a0001c0036 a0001c0046 a0001c0048 a0001c0064 a0001c0070 a0001c0071 a0001c0094 a0001c0098 a0001c0110 a0001c0111 a0002c0030 a0002c0060 a0002c0061 a0002c0102 a0002c0103 a0002c0104 a0004c0049 a0004c0095 a0005c0038 a0005c0075 a0007c0019 a0015c0106 a0018c0076 a0019c0092 a0020c0087	a0001c0002t0004 a0001c0002t0041 a0001c0002t0096 others(50): Show a0001c0002t0004 a0001c0002t0041 a0001c0002t0096 a0001c0003t0002 a0001c0003t0011 a0001c0003t0020 a0001c0003t0090 a0001c0005t0017 a0001c0006t0002 a0001c0006t0010 a0001c0006t0014 a0001c0006t0018 a0001c0006t0020 a0001c0007t0002 a0001c0007t0003 a0001c0007t0013 a0001c0010t0001 a0001c0013t0002 a0001c0013t0013 a0001c0013t0100 a0001c0013t0101 a0001c0015t0012 a0001c0015t0030 a0001c0016t0028 a0001c0016t0080 a0001c0032t0001 a0001c0036t0029 a0001c0046t0093 a0001c0048t0073 a0001c0064t0031 a0001c0070t0083 a0001c0071t0071 a0001c0094t0005 a0001c0098t0077 a0001c0110t0002 a0001c0111t0001 a0002c0030t0015 a0002c0030t0072 a0002c0060t0021 a0002c0061t0002 a0002c0102t0021 a0002c0103t0097 a0002c0104t0003 a0004c0049t0002 a0004c0095t0037 a0005c0038t0007 a0005c0075t0020 a0007c0019t0027 a0007c0019t0075 a0015c0106t0012 a0018c0076t0034 a0019c0092t0007 a0020c0087t0014	a0001c0002t0004g0039 a0001c0002t0041g0022 a0001c0002t0096g0125 others(52): Show a0001c0002t0004g0039 a0001c0002t0041g0022 a0001c0002t0096g0125 a0001c0003t0002g0076 a0001c0003t0011g0068 a0001c0003t0020g0156 a0001c0003t0090g0134 a0001c0005t0017g0106 a0001c0006t0002g0078 a0001c0006t0010g0133 a0001c0006t0014g0201 a0001c0006t0018g0111 a0001c0006t0020g0202 a0001c0007t0002g0044 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0007t0013g0092 a0001c0010t0001g0036 a0001c0013t0002g0198 a0001c0013t0013g0193 a0001c0013t0100g0011 a0001c0013t0101g0137 a0001c0015t0012g0074 a0001c0015t0030g0131 a0001c0016t0028g0009 a0001c0016t0080g0166 a0001c0032t0001g0138 a0001c0036t0029g0124 a0001c0046t0093g0045 a0001c0048t0073g0109 a0001c0064t0031g0161 a0001c0070t0083g0005 a0001c0071t0071g0093 a0001c0094t0005g0090 a0001c0098t0077g0099 a0001c0110t0002g0121 a0001c0111t0001g0203 a0002c0030t0015g0095 a0002c0030t0072g0096 a0002c0060t0021g0144 a0002c0061t0002g0159 a0002c0102t0021g0055 a0002c0103t0097g0164 a0002c0104t0003g0194 a0004c0049t0002g0170 a0004c0095t0037g0062 a0005c0038t0007g0052 a0005c0075t0020g0006 a0007c0019t0027g0004 a0007c0019t0075g0017 a0015c0106t0012g0100 a0018c0076t0034g0020 a0019c0092t0007g0116 a0020c0087t0014g0065	55	201	0.2736	-52	c.248 others(71): Show c.2484+2542_2484+2593delCATATATACGTATATATACATATACA TATATACGTATATATACATATACGTA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SEBOX_chr17_28358506_28370199	28369992	CACTGGCA others(45): Show CACTGGCACTTCTTGTCCACGTTGAAGCCCTCAGTGCAGCGGCCCTTGCA TGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-52	c.-48 others(63): Show c.-4893_-4842delTCATGCAAGGGCCGCTGCACTGAGGGCTTCAACG TGGACAAGAAGTGCCAGT	SEBOX	ENSG00000274529.6	transcript	ENST00000536498.6	protein_coding		4794		chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77215786	TTCGTAGG others(45): Show TTCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTAGGGTTAGTAGGTAG GGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG00639.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	2	366	0.0055	-52	c.17 others(63): Show c.1765_*1816delCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTA GGGTTAGTAGGTAGGGCT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1765	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216175	AGTAGGTA others(45): Show AGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGG TTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG03195.hp2 others(1): Show HG02258.hp2 HG02896.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0034 a0001c0001t0013 a0001c0001t0034	a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(1): Show a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0034g0118	4	356	0.0112	-52	c.21 others(63): Show c.2165_*2216delAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTA GGGTTCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2165	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEMA3G_chr3_52428035_52450103	52444702	AAACTCGG others(45): Show AAACTCGGCACACGCACACAAACACGGCACACGCAAACTCGGCACACGCA CAC	A A	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0031 a0001c0003t0004g0031	1	308	0.0032	-52	c.115 others(67): Show c.115+159_115+210delGTGTGCGTGTGCCGAGTTTGCGTGTGCCGT GTTTGTGTGCGTGTGCCGAGTT	SEMA3G	ENSG00000010319.7	transcript	ENST00000231721.7	protein_coding	1/15			chr3	TogoVar
SENP3_chr17_7556919_7576969	7571860	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA AAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG02148.hp2 NA20752.hp1 others(1): Show HG01192.hp2 HG02148.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0025 a0001c0001t0010g0042 a0001c0001t0010g0006 a0001c0001t0010g0025 a0001c0001t0010g0042	4	444	0.0090	-52	c.38 others(61): Show c.385_*436delTATATATATATATATATATATATATATATATATATA TATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	385	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838278	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18954.hp1 NA18981.hp1 others(1): Show HG02622.hp2 NA18954.hp1 NA18981.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0041 a0001c0001t0002g0140 a0001c0001t0002g0150 others(1): Show a0001c0001t0002g0041 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0003g0098	4	336	0.0119	-52	c.169 others(69): Show c.169+5382_169+5433delTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838282	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp1 HG02071.hp1 others(20): Show HG00597.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02723.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0002t0001	a0001c0001t0002g0071 a0001c0001t0002g0122 a0001c0001t0002g0126 others(20): Show a0001c0001t0002g0071 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0007g0132 a0001c0001t0007g0147 a0001c0001t0007g0163 a0001c0001t0014g0105 a0001c0001t0014g0129 a0001c0001t0014g0165 a0001c0001t0027g0145 a0001c0001t0029g0037 a0001c0001t0032g0158 a0001c0002t0001g0298	23	333	0.0691	-52	c.169 others(69): Show c.169+5386_169+5437delTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	300	0.0033	-52	c.169 others(69): Show c.169+5390_169+5441delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	284	0.0035	-52	c.169 others(69): Show c.169+5394_169+5445delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(45): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	294	0.0034	-52	c.169 others(69): Show c.169+5398_169+5449delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGCZ_chr8_14079845_15243431	14551446	ATATATAT others(45): Show ATATATATATTATATATATTATATATATTATATATTATATATATTATATA TAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0008 a0001c0001t0045g0008	1	102	0.0098	-52	c.234 others(69): Show c.234+3234_234+3285delATATATATAATATATATAATATATAATA TATATAATATATATAATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551473	TTATATAT others(45): Show TTATATATTATATATATTATATATATTATATATATTATATATATTATATA TAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0015 a0001c0001t0021g0015	1	59	0.0169	-52	c.234 others(69): Show c.234+3207_234+3258delTTATATATAATATATATAATATATATAA TATATATAATATATATAATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66736402	ATTATATG others(45): Show ATTATATGTGAATATAATATATTGCGTATTATATGTGAATATAATATATT GCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 HG02976.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0029 a0001c0001t0028 a0002c0002t0029	a0001c0001t0028g0238 a0002c0002t0029g0112 a0001c0001t0028g0238 a0002c0002t0029g0112	2	299	0.0067	-52	c.203 others(71): Show c.2031+2524_2031+2575delTATATGTGAATATAATATATTGCGTA TTATATGTGAATATAATATATTGCGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH2D4A_chr8_19308693_19401218	19322648	GCTCTGTC others(45): Show GCTCTGTCTCCCAAGCTGCAGTGCAGTGGTGTGAGATTTCAACTCACTGC AAC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	352	0.0028	-52	c.181 others(69): Show c.181+2932_181+2983delAAGCTGCAGTGCAGTGGTGTGAGATTTC AACTCACTGCAACCTCTGTCTCCC	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4A_chr8_19308693_19401218	19322706	TCTCCCTA others(45): Show TCTCCCTAGCTGCAGTGCAGTGGTGTGACATTTCAACTCACTGCAACCTC TGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp2 HG03540.hp2 NA19043.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0009c0021 a0002c0004 a0009c0021	a0002c0004t0003 a0009c0021t0019 a0002c0004t0003 a0009c0021t0019	a0002c0004t0003g0268 a0009c0021t0019g0269 a0002c0004t0003g0268 a0009c0021t0019g0269	2	352	0.0057	-52	c.181 others(69): Show c.181+2984_181+3035delTAGCTGCAGTGCAGTGGTGTGACATTTC AACTCACTGCAACCTCTGCCTCCC	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348642	CTATCTAT others(45): Show CTATCTATCTATCCTATCTATCTATCTATCTATCTATCTATCTATCTATC TAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	270	0.0037	-52	c.101 others(71): Show c.1013-1362_1013-1311delATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368462	TATATATT others(45): Show TATATATTATATATATATATAAAATATATATATATTATATATATATATAT AAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02698.hp1 others(12): Show HG00609.hp2 HG00621.hp1 HG02698.hp1 HG03195.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18984.hp2 NA18998.hp2 NA20905.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0056 a0009c0016t0001	a0001c0001t0001g0054 a0001c0001t0001g0123 a0001c0001t0001g0124 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0006g0027 a0001c0001t0008g0166 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0023g0127 a0001c0001t0056g0180 a0009c0016t0001g0181	15	278	0.0540	-52	c.427 others(69): Show c.427+5276_427+5327delTTTATATATATATATATAATATATATAT ATTTTATATATATATATAATATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	TAAATAAG others(45): Show TAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATTTA AAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(85): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01517.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA19003.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp2 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0018 a0002c0003 a0002c0015 a0005c0014 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0012t0001 a0001c0013t0002 a0001c0018t0022 a0002c0003t0002 a0002c0003t0004 a0002c0003t0023 a0002c0003t0024 a0002c0015t0004 a0005c0014t0001 a0008c0017t0002	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 others(85): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0109 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0139 a0001c0001t0014g0140 a0001c0001t0015g0198 a0001c0001t0020g0085 a0001c0001t0025g0115 a0001c0001t0027g0128 a0001c0002t0002g0120 a0001c0002t0003g0031 a0001c0002t0003g0070 a0001c0002t0013g0152 a0001c0004t0001g0131 a0001c0004t0002g0110 a0001c0004t0002g0113 a0001c0007t0001g0054 a0001c0007t0001g0123 a0001c0012t0001g0199 a0001c0013t0002g0064 a0001c0018t0022g0192 a0002c0003t0002g0133 a0002c0003t0004g0072 a0002c0003t0004g0121 a0002c0003t0023g0146 a0002c0003t0024g0116 a0002c0015t0004g0213 a0005c0014t0001g0129 a0008c0017t0002g0137	88	121	0.7273	-52	c.394 others(71): Show c.394-21654_394-21603delTTTTAAATAAGCATAGTTGCTTATTT TTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SHISA9_chr16_12896598_13245416	12943314	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02647.hp1 HG02293.hp1 HG02293.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0064 a0001c0001t0010 a0001c0001t0064	a0001c0001t0010g0131 a0001c0001t0010g0188 a0001c0001t0064g0112 a0001c0001t0010g0131 a0001c0001t0010g0188 a0001c0001t0064g0112	3	203	0.0148	-52	c.691 others(71): Show c.691+26501_691+26552delTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198202	ATGTGTGT others(45): Show ATGTGTGTATATGCATACATATATACTTGTGTGTATATGCATACATATAT ACT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01993.hp2 HG03017.hp2 others(2): Show HG01167.hp2 HG01993.hp2 HG03017.hp2 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0055 a0001c0001t0071 others(2): Show a0001c0001t0004 a0001c0001t0055 a0001c0001t0071 a0001c0001t0072 a0001c0001t0094	a0001c0001t0004g0006 a0001c0001t0055g0118 a0001c0001t0071g0007 others(2): Show a0001c0001t0004g0006 a0001c0001t0055g0118 a0001c0001t0071g0007 a0001c0001t0072g0165 a0001c0001t0094g0101	5	140	0.0357	-52	c.692 others(69): Show c.692-5084_692-5033delGTGTATATGCATACATATATACTTGTGT GTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(45): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0046 a0007c0009t0001g0046	1	41	0.0244	-52	c.295 others(71): Show c.2957+9285_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	402134	GGCTCCAC others(45): Show GGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCAGACC CCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0189 a0001c0006t0001g0189	1	233	0.0043	-52	c.37 others(63): Show c.3710_*3761delGGGGGTCTGGGGTGAGCGGGGTCGGGGTGAGCGG GGCCGGGGTCAGTGGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3581		chr11	TogoVar
SIGIRR_chr11_400716_419999	402592	CCCCGCTC others(45): Show CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCC CGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	238	0.0042	-52	c.32 others(63): Show c.3252_*3303delTCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCCGG GGGTCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3123		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51495246	TGGACGGG others(45): Show TGGACGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATG GAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01433.hp2 others(1): Show HG00140.hp2 HG00642.hp1 HG01433.hp2 HG03831.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0016 a0001c0002 a0002c0001 a0003c0016	a0001c0002t0005 a0002c0001t0001 a0003c0016t0005 a0001c0002t0005 a0002c0001t0001 a0003c0016t0005	a0001c0002t0005g0085 a0002c0001t0001g0125 a0003c0016t0005g0047 a0001c0002t0005g0085 a0002c0001t0001g0125 a0003c0016t0005g0047	4	430	0.0093	-52	c.159 others(71): Show c.1599+1582_1599+1633delGTCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCGTCC	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	7/7			chr19	TogoVar
SIM1_chr6_100380009_100469921	100412587	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAG AAA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18747.hp2 NA18963.hp1 HG02135.hp2 NA18747.hp2 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0007g0178 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0007g0178	3	314	0.0096	-52	c.116 others(71): Show c.1167+8151_1167+8202delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412591	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAA GAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19005.hp2 HG03239.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0226 a0002c0002t0001g0214 a0002c0002t0001g0226	2	311	0.0064	-52	c.116 others(71): Show c.1167+8147_1167+8198delTTCTTTTCTTTCTTTCTTTCCTTCTT TCTTTCCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAA GAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	302	0.0033	-52	c.116 others(71): Show c.1167+8143_1167+8194delTTCTTTCTTTTCTTTCTTTCTTTCCT TCTTTCTTTCCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(45): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02615.hp1 others(5): Show HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0002t0002g0114	8	9	0.8889	-52	c.177 others(69): Show c.177-3577_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1061351	ACCCGCCG others(45): Show ACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTACCTG CCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG03098.hp1 others(5): Show HG01192.hp2 HG02055.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0012 a0001c0003 a0001c0014 a0002c0012	a0001c0003t0003 a0001c0014t0003 a0002c0012t0003 others(1): Show a0001c0003t0003 a0001c0014t0003 a0002c0012t0003 a0002c0012t0024	a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0006 others(5): Show a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0019 a0001c0014t0003g0093 a0002c0012t0003g0073 a0002c0012t0003g0075 a0002c0012t0024g0074	8	118	0.0678	-52	c.274 others(69): Show c.2740-952_2740-901delCGGCAGGTACGGCGGGTGCGGCGGGTGA GACTCAGGGATCCCGCACGGCGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	GCCCCAGT others(45): Show GCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG AGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19011.hp1 HG00733.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0034 a0001c0009 a0002c0034	a0001c0009t0002 a0002c0034t0002 a0001c0009t0002 a0002c0034t0002	a0001c0009t0002g0114 a0002c0034t0002g0091 a0001c0009t0002g0114 a0002c0034t0002g0091	2	75	0.0267	-52	c.224 others(71): Show c.2241+1590_2241+1641delGCTCACTGGGGGCTGCATAAGTGTGA TACCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072108	GGGCATCA others(45): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04184.hp1 HG00741.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0004 a0001c0001t0001 a0002c0023t0004	a0001c0001t0001g0115 a0002c0023t0004g0010 a0001c0001t0001g0115 a0002c0023t0004g0010	2	117	0.0171	-52	c.224 others(71): Show c.2241+1473_2241+1524delGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072221	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03927.hp2 HG01192.hp2 HG03927.hp2	a0001 a0001	a0001c0014 a0001c0030 a0001c0014 a0001c0030	a0001c0014t0003 a0001c0030t0001 a0001c0014t0003 a0001c0030t0001	a0001c0014t0003g0093 a0001c0030t0001g0105 a0001c0014t0003g0093 a0001c0030t0001g0105	2	118	0.0169	-52	c.224 others(71): Show c.2241+1360_2241+1411delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072504	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-52	c.224 others(71): Show c.2241+1077_2241+1128delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072700	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0060 a0002c0024t0002g0060	1	108	0.0093	-52	c.224 others(69): Show c.2241+881_2241+932delCACTGGGGGCTGCATAAGTGTGATACCG TGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072794	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	112	0.0089	-52	c.224 others(69): Show c.2241+787_2241+838delCACTGGGGGCTGCATAAGTGTGATACCG TGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A25_chr11_63153437_63248599	63197792	ACAGAATG others(45): Show ACAGAATGGGAGAAAATTTTGGCAATCTACTCATCTCACAAAGGGCTAAT ATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 NA18906.hp2 HG02723.hp1 HG03486.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0022 a0002c0002t0045 a0002c0002t0004 a0002c0002t0022 a0002c0002t0045	a0002c0002t0004g0153 a0002c0002t0022g0069 a0002c0002t0045g0281 a0002c0002t0004g0153 a0002c0002t0022g0069 a0002c0002t0045g0281	3	342	0.0088	-52	c.831 others(71): Show c.831-14027_831-13976delGATATTAGCCCTTTGTGAGATGAGTA GATTGCCAAAATTTTCTCCCATTCTG	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	7/11			chr11	TogoVar
SLC25A21_chr14_36672921_37177606	37098734	TAGATAGA others(45): Show TAGATAGATAGATAGACAGACAGACAGACAGACAGACAGACAGACAGACA GAC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	159	0.0063	-52	c.70+ others(69): Show c.70+73495_70+73546delGTCTGTCTGTCTGTCTGTCTGTCTGTCT GTCTGTCTGTCTATCTATCTATCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A22_chr11_785475_803281	801741	GAGCAGGA others(45): Show GAGCAGGATCCAGGAGGGACGGGGTGGGGTGGAAGTTGCCAGGGACACAG GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02486.hp1 others(9): Show HG01109.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0003t0006 a0001c0001t0003 a0001c0001t0007 a0001c0003t0006	a0001c0001t0003g0003 a0001c0001t0007g0013 a0001c0003t0006g0008 a0001c0001t0003g0003 a0001c0001t0007g0013 a0001c0003t0006g0008	12	408	0.0294	-52	c.-37 others(63): Show c.-3740_-3689delTCCCTGTGTCCCTGGCAACTTCCACCCCACCCCG TCCCTCCTGGATCCTGCT	SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding		3461		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6437437	TTGTAGAT others(45): Show TTGTAGATATAATCAAATTAAAATGAGGTTACACTGGATTGGGGGGGGTT GCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	348	0.0029	-52	c.-37 others(63): Show c.-3796_-3745delGGCAACCCCCCCCAATCCAGTGTAACCTCATTTT AATTTGATTATATCTACA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding		3675		chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84889677	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0388 a0001c0004t0001g0231 a0001c0002t0001g0388 a0001c0004t0001g0231	2	269	0.0074	-52	c.186 others(67): Show c.186-750_186-699delTTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35C1_chr11_45800149_45818016	45815611	GTATCAAT others(45): Show GTATCAATTATTATAGAATTGATATATTACTAATTCATGAATAATATAGA TTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0023	-52	c.42 others(63): Show c.4277_*4328delTATCAATTATTATAGAATTGATATATTACTAATT CATGAATAATATAGATTA	SLC35C1	ENSG00000181830.9	transcript	ENST00000314134.4	protein_coding		2596		chr11	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0122 a0003c0001t0001g0122	1	285	0.0035	-52	c.-15 others(69): Show c.-15-8304_-15-8253delAGAGAGAGAGAGAGAGAGAGAGGGGGGG GGGAGAGAGAGAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396507	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0188 a0002c0012t0002g0188	1	320	0.0031	-52	c.-15 others(69): Show c.-15-8188_-15-8137delAGAGAGAGAGAGAGAGAGAGAGAGAGGG GGGGGAGAGAGAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC43A2_chr17_1564268_1633834	1605551	AGGCTGGG others(45): Show AGGCTGGGGAGCTGGGTGGTGGGTGGGGGCTGCGGAGCTGGGAGGTGGGT GGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02071.hp2 others(1): Show HG00438.hp1 HG00621.hp2 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0043 a0001c0001t0100	a0001c0001t0001g0348 a0001c0001t0009g0355 a0001c0001t0043g0119 others(1): Show a0001c0001t0001g0348 a0001c0001t0009g0355 a0001c0001t0043g0119 a0001c0001t0100g0175	4	379	0.0106	-52	c.501 others(69): Show c.501+7592_501+7643delCCCACCCACCTCCCAGCTCCGCAGCCCC CACCCACCACCCAGCTCCCCAGCC	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar

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