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
SNIP1_chr1_37529449_37559293	37535239	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01175.hp2 others(1): Show HG01168.hp1 HG01169.hp1 HG01175.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0055 a0001c0001t0021 a0001c0001t0055	a0001c0001t0021g0113 a0001c0001t0021g0115 a0001c0001t0021g0122 others(1): Show a0001c0001t0021g0113 a0001c0001t0021g0115 a0001c0001t0021g0122 a0001c0001t0055g0138	4	88	0.0455	38	c.25 others(49): Show c.2508_*2509insTTATATATATATATATATATATATATATATATAT ATAT	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2508		chr1	TogoVar
SNRK_chr3_43281540_43356143	43296423	T T	TATATATA others(31): Show TATATATATATATATATATATATGTATATATATATATTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	2	241	0.0083	38	c.-16 others(57): Show c.-168-3321_-168-3320insATATATATATATGTATATATATATAT TCATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTB2_chr16_69182164_69314052	69292364	A A	ATATAATA others(31): Show ATATAATATATATATAATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0065 a0001c0002t0015g0065	1	213	0.0047	38	c.134 others(57): Show c.1346-7222_1346-7221insATATATATATAATATATATATATTAT ATATATATTATA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(31): Show TTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02886.hp1 HG03453.hp1 others(4): Show HG02698.hp1 HG02886.hp1 HG03453.hp1 HG03490.hp2 HG03669.hp2 NA18952.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0025	a0001c0001t0002g0068 a0001c0001t0004g0072 a0001c0001t0008g0071 others(4): Show a0001c0001t0002g0068 a0001c0001t0004g0072 a0001c0001t0008g0071 a0001c0001t0009g0085 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0025g0090	7	40	0.1750	38	c.-10 others(59): Show c.-103+26379_-103+26380insTTTTTCTTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTTT others(31): Show TTTTTTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	34	0.0294	38	c.-10 others(59): Show c.-103+26375_-103+26376insTTTTTTTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701618	C C	CTTCTTCT others(31): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	85	0.0118	38	c.103 others(57): Show c.1039-2982_1039-2981insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	1056387	C C	CGCTGTGC others(31): Show CGCTGTGCTGTGGGGAGGGAGGGGAGAGCGTCGCGCTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	188	0.0053	38	c.73- others(55): Show c.73-27125_73-27124insCTGTGGGGAGGGAGGGGAGAGCGTCGCG CTGTGCTGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222031	A A	ATCTCTGT others(31): Show ATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0089 a0002c0003t0001g0089	1	64	0.0156	38	c.719 others(57): Show c.719+12812_719+12813insGTCTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222117	C C	CTCTGTCT others(31): Show CTCTGTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	149	0.0067	38	c.719 others(57): Show c.719+12890_719+12891insGTCTCTGTCTCTCTGTCTCTCTCTGT CTCTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255855	T T	TATATATA others(31): Show TATATATAAATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01257.hp1 others(2): Show HG00140.hp1 HG00642.hp2 HG01257.hp1 HG02273.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0179 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0002t0001g0018	5	182	0.0275	38	c.100 others(57): Show c.1006-3488_1006-3487insAATATATATAAATATATAAATATATA TAAATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255875	T T	TATATATA others(31): Show TATATATAAATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG00735.hp2 HG01074.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0110 a0011c0020t0001g0115 a0011c0020t0001g0110 a0011c0020t0001g0115	2	134	0.0149	38	c.100 others(57): Show c.1006-3488_1006-3487insAATATATAAATATATATAAATATATA TATAAATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1316560	T T	TCCCTTAT others(31): Show TCCCTTATCTGAAATGCTTGAGACCAGAAGTGTTTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(104): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18942.hp2 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(9): Show a0001 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0017 a0019 a0021	a0001c0001 a0001c0002 a0003c0007 others(18): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0003c0026 a0006c0009 a0006c0010 a0006c0028 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0008c0031 a0009c0012 a0010c0013 a0010c0029 a0011c0020 a0013c0018 a0017c0036 a0019c0030 a0021c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0026t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0008c0031t0001 a0009c0012t0001 a0010c0013t0001 a0010c0029t0001 a0011c0020t0001 a0013c0018t0001 a0017c0036t0001 a0019c0030t0001 a0021c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(104): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0128 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0092 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0002g0076 a0001c0002t0004g0051 a0003c0007t0001g0007 a0003c0007t0001g0019 a0003c0007t0001g0060 a0003c0007t0001g0068 a0003c0007t0001g0080 a0003c0007t0001g0104 a0003c0007t0001g0116 a0003c0007t0001g0184 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0008t0001g0011 a0003c0008t0001g0044 a0003c0008t0001g0059 a0003c0008t0001g0096 a0003c0008t0001g0105 a0003c0008t0001g0132 a0003c0008t0001g0190 a0003c0026t0001g0097 a0006c0009t0001g0028 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0093 a0006c0009t0001g0129 a0006c0009t0001g0162 a0006c0010t0001g0008 a0006c0010t0001g0010 a0006c0010t0001g0033 a0006c0010t0001g0165 a0006c0028t0001g0127 a0007c0016t0001g0005 a0007c0016t0001g0032 a0007c0016t0001g0143 a0007c0017t0001g0106 a0007c0017t0001g0125 a0007c0024t0002g0073 a0008c0011t0001g0004 a0008c0011t0001g0135 a0008c0011t0001g0182 a0008c0011t0001g0188 a0008c0031t0001g0117 a0009c0012t0001g0091 a0009c0012t0001g0146 a0009c0012t0001g0163 a0010c0013t0001g0042 a0010c0013t0001g0140 a0010c0013t0001g0166 a0010c0029t0001g0152 a0011c0020t0001g0110 a0011c0020t0001g0115 a0013c0018t0001g0045 a0013c0018t0001g0046 a0017c0036t0001g0070 a0019c0030t0001g0160 a0021c0027t0001g0136	107	188	0.5691	38	c.148 others(55): Show c.1488+186_1488+223dupCCCTTATCTGAAATGCTTGAGACCAGAA GTGTTTGGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX10_chr7_26286862_26379383	26325306	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01928.hp2 others(9): Show HG01081.hp2 HG01243.hp1 HG01928.hp2 HG02132.hp1 HG02280.hp2 HG02602.hp1 HG02896.hp1 HG02896.hp2 HG03225.hp2 NA18953.hp2 NA18993.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 others(9): Show a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0311 a0001c0001t0001g0366 a0001c0001t0002g0287 a0001c0001t0003g0081 a0001c0001t0009g0226 a0001c0001t0011g0310	12	18	0.6667	38	c.-23 others(57): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX12_chrX_71054247_71073334	71071522	T T	TATATATT others(31): Show TATATATTTATATTTATATATATTATATATATAATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0009 a0001c0002t0003g0009	1	244	0.0041	38	c.-32 others(49): Show c.-3217_-3216insGAATATTATATATATAATATATATAAATATAAAT ATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3189		chrX	TogoVar
SNX18_chr5_54512759_54551586	54513823	A A	ATATATAT others(31): Show ATATATATGATATATATAAATTTATATAATAAATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0118 a0001c0003t0005g0118	1	227	0.0044	38	c.-41 others(49): Show c.-4130_-4129insTATATATGATATATATAAATTTATATAATAAATA AATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3935		chr5	TogoVar
SNX18_chr5_54512759_54551586	54514178	T T	TAAATTTA others(31): Show TAAATTTATATAATATATAAATATATATGATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01081.hp1 others(16): Show HG00639.hp1 HG01071.hp2 HG01081.hp1 HG01346.hp2 HG01928.hp1 HG01943.hp1 HG02300.hp1 HG02683.hp1 HG03139.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18941.hp2 NA18954.hp2 NA18971.hp1 NA18975.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0029	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0018 others(10): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0003g0053 a0001c0001t0003g0059 a0001c0001t0007g0072 a0001c0001t0015g0081 a0001c0001t0029g0073	19	162	0.1173	38	c.-37 others(49): Show c.-3775_-3774insAAATTTATATAATATATAAATATATATGATATAT ATAA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3580		chr5	TogoVar
SNX27_chr1_151607050_151704080	151681783	C C	CTTTTTAG others(31): Show CTTTTTAGGATTTTTCATAATCTAGTGTTAGTCTGCCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG01346.hp1 others(2): Show HG00741.hp2 HG01256.hp2 HG01346.hp1 HG02273.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0048 others(1): Show a0001c0001t0011 a0001c0001t0020 a0001c0001t0048 a0001c0001t0121	a0001c0001t0011g0055 a0001c0001t0020g0053 a0001c0001t0020g0057 others(2): Show a0001c0001t0011g0055 a0001c0001t0020g0053 a0001c0001t0020g0057 a0001c0001t0048g0065 a0001c0001t0121g0083	5	364	0.0137	38	c.115 others(57): Show c.1150-1571_1150-1534dupTTTTAGGATTTTTCATAATCTAGTGT TAGTCTGCCTAT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476395	T T	TATATATA others(31): Show TATATATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0139 a0001c0001t0110g0139	1	170	0.0059	38	c.203 others(57): Show c.2038-1311_2038-1310insCATATATATATATATATATATATACA TATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(31): Show GCGCGCGCGCGCGCACACGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19005.hp1 NA19077.hp2 HG02071.hp1 NA19005.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0024 a0001c0002t0067 a0001c0002t0016 a0001c0002t0024 a0001c0002t0067	a0001c0002t0016g0203 a0001c0002t0024g0215 a0001c0002t0067g0205 a0001c0002t0016g0203 a0001c0002t0024g0215 a0001c0002t0067g0205	3	17	0.1765	38	c.644 others(55): Show c.644-2134_644-2133insGCGCGCGCGCGCACACGCACACACACAC ACACACACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(31): Show GCGCGCGCGCGCGCACACGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0211 a0001c0002t0009g0211	1	15	0.0667	38	c.644 others(55): Show c.644-2134_644-2133insGCGCGCGCGCGCACACGCGCACACACAC ACACACACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX30_chr9_112745760_112879987	112865661	A A	ATATATAT others(31): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG00639.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0005 a0002c0003t0004g0004 a0002c0003t0004g0005	2	77	0.0260	38	c.125 others(57): Show c.1254+1263_1254+1264insATATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX30_chr9_112745760_112879987	112865661	A A	ATATGTGT others(31): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0013 a0002c0003t0004g0013	1	76	0.0132	38	c.125 others(57): Show c.1254+1263_1254+1264insATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(31): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0048 a0002c0002t0012g0048	1	223	0.0045	38	c.12+ others(55): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	191	0.0052	38	c.949 others(55): Show c.949+5616_949+5617insAAAAAAAAAAAAAATATATATATATATA TATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179353199	T T	TTATATAT others(31): Show TTATATATAAATATATATATATAAATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18942.hp2 NA18950.hp2 others(2): Show HG02135.hp1 NA18942.hp2 NA18950.hp2 NA18975.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0060 a0001c0001t0006 a0001c0001t0060	a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0021 others(2): Show a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0060 a0001c0001t0060g0019	5	377	0.0133	38	c.159 others(55): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107564581	A A	AACTAACT others(31): Show AACTAACTAACTAACTAACTAACTAACTAACTAACTAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	248	0.0040	38	c.574 others(57): Show c.574-22499_574-22498insACTAACTAACTAACTAACTAACTAAC TAACTAACTAAC	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	4/6			chr6	TogoVar
SOCS7_chr17_38346844_38410593	38387646	C C	CTATATAT others(31): Show CTATATATAGTATATATACAATATACTATATATGTTTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02572.hp1 others(2): Show HG00733.hp2 HG01109.hp1 HG02572.hp1 HG02647.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0019 others(2): Show a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0019 a0001c0002t0011g0020 a0001c0002t0011g0022	5	275	0.0182	38	c.168 others(57): Show c.1682-7663_1682-7662insTATATATAGTATATATACAATATACT ATATATGTTTAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9			chr17	TogoVar
SOHLH2_chr13_36163217_36219556	36214661	A A	AAAGTGGC others(31): Show AAAGTGGCCCTGTCGCCAGTTCTGGCGCGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0206	1	418	0.0024	38	c.-13 others(47): Show c.-136_-135insCCCCCCCCCCCGCGCCAGAACTGGCGACAGGGCCAC TT	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding		106		chr13	TogoVar
SORCS2_chr4_7187538_7747827	7295018	T T	TCTCCTCT others(31): Show TCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0019 a0018c0025t0019	a0018c0025t0019g0025 a0018c0025t0019g0025	1	103	0.0097	38	c.481 others(59): Show c.481-101233_481-101232insCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0011 a0001c0015t0011	a0001c0015t0011g0015 a0001c0015t0011g0015	1	31	0.0323	38	c.481 others(57): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0094 a0001c0001t0048g0094	1	31	0.0323	38	c.481 others(57): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0012 a0002c0004t0004g0012	1	31	0.0323	38	c.481 others(57): Show c.481-22809_481-22808insATATATATATATATATATATATATTT TTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7525881	C C	CCCTCCTC others(31): Show CCCTCCTCAGTCACCTGTCCCCTCCTCAGTCACCTGTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01123.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0006t0001 a0001c0002t0008 a0001c0006t0001	a0001c0002t0008g0008 a0001c0006t0001g0054 a0001c0002t0008g0008 a0001c0006t0001g0054	2	132	0.0152	38	c.549 others(55): Show c.549-5631_549-5630insCCCTCCTCAGTCACCTGTCTCCTCCTCA GTCACCTGTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7641858	G G	GGATGGGT others(31): Show GGATGGGTGGGTGGGTGGATGGATGGGGATGAATGGATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0014 a0017	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0016 a0001c0017 a0001c0026 a0001c0028 a0001c0030 a0001c0031 a0001c0037 a0001c0047 a0001c0049 a0001c0051 a0001c0053 a0002c0004 a0002c0050 a0003c0035 a0004c0007 a0005c0018 a0005c0021 a0006c0008 a0011c0023 a0014c0052 a0017c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(66): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0001t0048 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0035 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0044 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0050 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0011t0003 a0001c0011t0045 a0001c0016t0001 a0001c0017t0002 a0001c0017t0015 a0001c0026t0004 a0001c0028t0027 a0001c0030t0021 a0001c0031t0025 a0001c0037t0017 a0001c0047t0057 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0009 a0002c0004t0022 a0002c0004t0047 a0002c0050t0023 a0003c0035t0008 a0004c0007t0014 a0005c0018t0043 a0005c0021t0056 a0006c0008t0006 a0011c0023t0009 a0014c0052t0003 a0017c0019t0013	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 others(84): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0017g0052 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0029g0141 a0001c0001t0048g0094 a0001c0001t0054g0007 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0010g0045 a0001c0002t0035g0020 a0001c0002t0038g0096 a0001c0002t0039g0070 a0001c0002t0042g0050 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0002t0053g0115 a0001c0003t0001g0081 a0001c0003t0002g0079 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0009g0135 a0001c0003t0010g0021 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0020g0043 a0001c0003t0050g0005 a0001c0005t0008g0065 a0001c0006t0001g0054 a0001c0006t0002g0118 a0001c0006t0003g0117 a0001c0011t0003g0120 a0001c0011t0045g0107 a0001c0016t0001g0009 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0028t0027g0152 a0001c0030t0021g0109 a0001c0031t0025g0144 a0001c0037t0017g0017 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0095 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0022g0057 a0002c0004t0022g0114 a0002c0004t0047g0134 a0002c0050t0023g0132 a0003c0035t0008g0075 a0004c0007t0014g0166 a0005c0018t0043g0145 a0005c0021t0056g0103 a0006c0008t0006g0155 a0011c0023t0009g0122 a0014c0052t0003g0030 a0017c0019t0013g0027	87	168	0.5179	38	c.813 others(55): Show c.813+3396_813+3397insAATGGATTGATGGGTGGGTGGGTGGATG GATGGGGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7661241	T T	TGCAGAGA others(31): Show TGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG02572.hp2 others(4): Show HG01109.hp2 HG01346.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp1 HG03492.hp1 NA19030.hp2	a0001 a0006 a0008 others(3): Show a0001 a0006 a0008 a0009 a0015 a0017	a0001c0002 a0001c0029 a0006c0008 others(4): Show a0001c0002 a0001c0029 a0006c0008 a0008c0056 a0009c0024 a0015c0054 a0017c0019	a0001c0002t0042 a0001c0029t0061 a0006c0008t0001 others(4): Show a0001c0002t0042 a0001c0029t0061 a0006c0008t0001 a0008c0056t0018 a0009c0024t0002 a0015c0054t0020 a0017c0019t0013	a0001c0002t0042g0050 a0001c0029t0061g0162 a0006c0008t0001g0029 others(4): Show a0001c0002t0042g0050 a0001c0029t0061g0162 a0006c0008t0001g0029 a0008c0056t0018g0061 a0009c0024t0002g0108 a0015c0054t0020g0113 a0017c0019t0013g0027	7	132	0.0530	38	c.888 others(53): Show c.888-207_888-170dupCCCCCTCAGCTCACTCAAGGAAAACGCAGA GACTCCAA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706449	G G	GCTGGGCT others(31): Show GCTGGGCTCTGCCTGGACAGAGATGAGGCTGGGCTCTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0115 a0001c0002t0053g0115	1	159	0.0063	38	c.186 others(57): Show c.1868+2171_1868+2172insTCTGCCTGGACAGAGATGAGGCTGGG CTCTGTCTGGGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	105242504	A A	ATATATAT others(31): Show ATATATATTTATATACATTTATATATATTTATATACATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01070.hp1 others(28): Show HG00609.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18941.hp1 NA18970.hp2 NA18988.hp1 NA19010.hp2 NA19012.hp2 NA19079.hp1 NA19090.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0018 a0003c0009 a0007c0019	a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0003t0002 a0001c0015t0002 a0001c0018t0002 a0003c0009t0002 a0007c0019t0002	a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 others(28): Show a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0010g0127 a0001c0002t0002g0053 a0001c0003t0002g0010 a0001c0015t0002g0130 a0001c0018t0002g0063 a0003c0009t0002g0096 a0003c0009t0002g0097 a0007c0019t0002g0109	31	126	0.2460	38	c.286 others(57): Show c.2869-3004_2869-3003insCATTTATATATTTATATACATTTATA TATATTTATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02559.hp2 HG02165.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0097 a0001c0001t0096 a0001c0001t0097	a0001c0001t0096g0074 a0001c0001t0097g0062 a0001c0001t0096g0074 a0001c0001t0097g0062	2	154	0.0130	38	c.34 others(49): Show c.3400_*3401insGCGCGCGCGCGCACACACACACACACACACACAC ACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0133 a0001c0001t0094g0133	1	153	0.0065	38	c.34 others(49): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACACACACAC ACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0001 a0001c0001t0112g0001	1	153	0.0065	38	c.34 others(49): Show c.3400_*3401insGCACACACACACACACACACACACACACACACAC ACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SP3_chr2_173895775_173970373	173935854	A A	ACAACGGA others(31): Show ACAACGGATTCATCTCTTGTATTCCTGATAGCTAATCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01261.hp1 others(7): Show HG00438.hp2 HG00621.hp1 HG01261.hp1 HG01346.hp2 HG03491.hp1 HG03492.hp2 HG04228.hp2 NA18950.hp1 NA18974.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0090 a0001c0001t0012 a0001c0001t0033 a0001c0001t0090	a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0295 others(7): Show a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0295 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0033g0066 a0001c0001t0033g0294 a0001c0001t0090g0296	10	341	0.0293	38	c.164 others(59): Show c.1640-17107_1640-17070dupGTGATTAGCTATCAGGAATACAAG AGATGAATCCGTTG	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	38	c.-42 others(49): Show c.-4275_-4274insAAAAAAAAAAAAAAATATATATATATATATATAT ATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA6_chr19_51688330_51710190	51704952	A A	AGGCCCCC others(31): Show AGGCCCCCTGCCCCCTCCTCCCTCAGACCTAGGAGTCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	414	0.0024	38	c.942 others(53): Show c.942-112_942-111insCCTAGGAGTCTGGGCCCCCTGCCCCCTCCT CCCTCAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPAG16_chr2_213279464_214415501	213860474	T T	TATAGATA others(31): Show TATAGATATATGTATATATATACATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01516.hp1 others(11): Show HG01361.hp1 HG01496.hp1 HG01516.hp1 HG02293.hp2 HG03490.hp2 HG03831.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0009 a0003c0003 a0011c0009	a0003c0003t0001 a0011c0009t0001 a0003c0003t0001 a0011c0009t0001	a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 others(11): Show a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0059 a0011c0009t0001g0085	14	82	0.1707	38	c.107 others(57): Show c.1071-2008_1071-2007insGATATATGTATATATATACATATATC TATATATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213860474	T T	TATAGATA others(31): Show TATAGATATATGTGTATATATACATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	69	0.0145	38	c.107 others(57): Show c.1071-2008_1071-2007insGATATATGTGTATATATACATATATC TATATATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG00438.hp2 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0028 a0002c0002t0001g0035	2	208	0.0096	38	c.135 others(57): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	136	0.0074	38	c.-18 others(49): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTTTTTTTTT TTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0087 a0001c0011t0001g0087	1	136	0.0074	38	c.-18 others(49): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT TTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	136	0.0074	38	c.-18 others(49): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT TTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	136	0.0074	38	c.-18 others(49): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATAT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar

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