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
SLC7A1_chr13_29504414_29600688	29558771	GGGGGAGA others(93): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGA ATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG A	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0014 a0001c0002t0007g0014	1	301	0.0033	-100	c.-11 others(119): Show c.-114-5011_-114-4912delTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCTCATTCAGATTCACTCTGCCTCACTCACATTCTCT CCCCCTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559211	GGGGGAGT others(93): Show GGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTG A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02148.hp1 HG02165.hp2 others(2): Show HG00438.hp1 HG02148.hp1 HG02165.hp2 NA18990.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0004 a0001c0002t0002g0184 a0001c0002t0004g0169 others(1): Show a0001c0001t0001g0004 a0001c0002t0002g0184 a0001c0002t0004g0169 a0001c0002t0009g0213	5	319	0.0157	-100	c.-11 others(119): Show c.-114-5451_-114-5352delTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCCCTCACTCACATTCACT CCCCGTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO2A1_chr3_133927701_134034925	133967808	CACCCCAC others(93): Show CACCCCACCCCACCTCCATACCCCCCACACATGAACACACGCTTCCCCCT CACAGGCACCCCACCCCACCTCCACACCCCCACACACTTCCCCCGACATG T	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01069.hp1 others(41): Show HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01258.hp2 HG01516.hp1 HG01975.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp1 HG02698.hp2 HG03041.hp1 HG03486.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18943.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18998.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19068.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0008 a0001c0010 others(3): Show a0001c0001 a0001c0008 a0001c0010 a0002c0005 a0006c0020 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0029 a0001c0008t0004 a0001c0010t0002 a0002c0005t0003 a0006c0020t0002 a0007c0017t0003	a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0051 others(40): Show a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0222 a0001c0001t0001g0255 a0001c0001t0002g0004 a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0086 a0001c0001t0011g0284 a0001c0001t0014g0285 a0001c0001t0022g0089 a0001c0001t0029g0322 a0001c0008t0004g0273 a0001c0010t0002g0019 a0001c0010t0002g0221 a0002c0005t0003g0010 a0006c0020t0002g0188 a0007c0017t0003g0196	44	340	0.1294	-100	c.397 others(117): Show c.397+5755_397+5854delACATGTCGGGGGAAGTGTGTGGGGGTGT GGAGGTGGGGTGGGGTGCCTGTGAGGGGGAAGCGTGTGTTCATGTGTGGG GGGTATGGAGGTGGGGTGGGGT	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding	3/13			chr3	TogoVar
SMIM10L1_chr12_11166194_11181016	11168252	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18951.hp2 NA18953.hp2 others(4): Show HG00544.hp2 NA18951.hp2 NA18953.hp2 NA19002.hp2 NA19075.hp2 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0003 a0001c0002t0011	a0001c0002t0003g0000 a0001c0002t0011g0000 a0001c0002t0003g0000 a0001c0002t0011g0000	7	394	0.0178	-100	c.-31 others(111): Show c.-3104_-3005delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2941		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39619332	ATATATCA others(93): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATT C	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp1 others(62): Show HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18947.hp1 NA18952.hp1 NA18961.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0047	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0029 others(62): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0001t0002g0286 a0001c0001t0002g0328 a0001c0001t0003g0326 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0006g0006 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0331 a0001c0001t0009g0024 a0001c0001t0009g0060 a0001c0001t0009g0061 a0001c0001t0009g0068 a0001c0001t0009g0071 a0001c0001t0009g0075 a0001c0001t0009g0080 a0001c0001t0009g0241 a0001c0001t0011g0242 a0001c0001t0012g0028 a0001c0001t0012g0031 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0015g0050 a0001c0001t0015g0062 a0001c0001t0021g0005 a0001c0001t0021g0074 a0001c0001t0022g0238 a0001c0001t0029g0329 a0001c0001t0036g0072 a0001c0001t0037g0054 a0001c0001t0040g0085 a0001c0001t0041g0021 a0001c0001t0042g0037 a0001c0001t0047g0069	65	334	0.1946	-100	c.-35 others(119): Show c.-35-14252_-35-14153delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATATATAGAATAAATTATATTTATTGATATATA GAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(93): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	2	0.5000	-100	c.16 others(111): Show c.1686_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SORBS2_chr4_185580523_185817194	185796790	GGGCTGGG others(93): Show GGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACGGTG GGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACGGTG A	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	310	0.0032	-100	c.-23 others(121): Show c.-237+14774_-237+14873delTCACCGTGACCAGGGAACAGCGTG GCCACAGAGCCCAGGCATGCCCAGCCCCACCGTGACCAGGGAACAGCGTG GCCACAGAGCCCAGGCATGCCCAGCC	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695540	GTGGATGG others(93): Show GTGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATTGGT GGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGG A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01884.hp2 others(16): Show HG01109.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp2 HG03209.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0008 a0012 a0013	a0001c0002 a0001c0003 a0001c0005 others(14): Show a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0001c0016 a0001c0033 a0001c0037 a0001c0041 a0003c0035 a0003c0042 a0004c0044 a0005c0021 a0005c0022 a0006c0008 a0008c0056 a0012c0039 a0013c0055	a0001c0002t0003 a0001c0003t0014 a0001c0005t0003 others(15): Show a0001c0002t0003 a0001c0003t0014 a0001c0005t0003 a0001c0005t0006 a0001c0015t0011 a0001c0016t0006 a0001c0033t0062 a0001c0037t0017 a0001c0041t0006 a0003c0035t0008 a0003c0042t0004 a0004c0044t0041 a0005c0021t0056 a0005c0022t0033 a0006c0008t0001 a0008c0056t0018 a0012c0039t0049 a0013c0055t0006	a0001c0002t0003g0018 a0001c0003t0014g0034 a0001c0005t0003g0101 others(16): Show a0001c0002t0003g0018 a0001c0003t0014g0034 a0001c0005t0003g0101 a0001c0005t0006g0157 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0006g0039 a0001c0033t0062g0160 a0001c0037t0017g0017 a0001c0041t0006g0031 a0003c0035t0008g0075 a0003c0042t0004g0066 a0004c0044t0041g0016 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0008t0001g0029 a0008c0056t0018g0061 a0012c0039t0049g0064 a0013c0055t0006g0150	19	142	0.1338	-100	c.159 others(119): Show c.1592-1635_1592-1536delCATGGATGGATGGATGGATGGATTGG TGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTG GATGGATGGATGGATGGATGGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724548	GTGGTGGG others(93): Show GTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGA TGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTG A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG01109.hp2 HG02258.hp1	a0003 a0008 a0003 a0008	a0003c0013 a0008c0056 a0003c0013 a0008c0056	a0003c0013t0018 a0008c0056t0018 a0003c0013t0018 a0008c0056t0018	a0003c0013t0018g0100 a0008c0056t0018g0061 a0003c0013t0018g0100 a0008c0056t0018g0061	2	165	0.0121	-100	c.261 others(117): Show c.2612-599_2612-500delGAATGGATGGTGGTGGTGATGGTGATGG TGGTGGTGTTGGTGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTG GTGATGGTGGAGGTGATGGTGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP8_chr7_20777279_20791886	20789526	TTACTTTC others(93): Show TTACTTTCATATAAAAAGTGAGCTATTTCTTTCATAGTAGCATTGGTCAA AGGGCATTTTTTTCTTGTACCACCCTTCTTTCACTCCCTCCCCAAAAGAA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	414	0.0024	-100	c.-28 others(111): Show c.-2828_-2729delTTTCTTTTGGGGAGGGAGTGAAAGAAGGGTGGTA CAAGAAAAAAATGCCCTTTGACCAATGCTACTATGAAAGAAATAGCTCAC TTTTTATATGAAAGTA	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		2641		chr7	TogoVar
SPAG9_chr17_50957174_51125868	51076997	GCTATCTA others(93): Show GCTATCTAGCTAGCTAGCTAGCTATCTAGCTATCTATCTAGCTATCTAGC TATCTAGCTAGCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTATCTA T	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp2 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0194 a0001c0001t0004g0202 a0001c0001t0001g0194 a0001c0001t0004g0202	2	280	0.0071	-100	c.424 others(117): Show c.424+2487_424+2586delATAGATAGCTAGCTAGATAGCTAGATAG CTAGCTAGATAGCTAGCTAGATAGCTAGATAGCTAGATAGATAGCTAGAT AGCTAGCTAGCTAGCTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SRBD1_chr2_45383680_45616267	45587037	ATTTTTAA others(93): Show ATTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA TTTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA T	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0112 a0003c0003t0001g0112	1	261	0.0038	-100	c.649 others(117): Show c.649-1363_649-1264delATTTTAAATATTTTAATAATTATATTTT AAAATAATTAAATATTTAAAAAATTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37361786	CCTCTGTG others(93): Show CCTCTGTGTGCAGGTAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGATG TAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGATGTAGAGATGCCGGGG T	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01517.hp1 HG02615.hp1 others(7): Show HG01071.hp2 HG01517.hp1 HG02615.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0002t0011	a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0005g0088 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0005g0088 a0001c0001t0006g0008 a0001c0001t0015g0017 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0018g0259 a0001c0002t0011g0009 a0001c0002t0011g0010	10	280	0.0357	-100	c.-24 others(119): Show c.-246-3368_-246-3269delTAGAGATGCCGGGGTCTCTGTGTGCA GGTAGAGATGTAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGATGCCGG GGTCTCTGTGTGCAGGTAGAGATG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62145968	AGTCTACA others(93): Show AGTCTACAACTTGTCCTTACAGCATTCTGCGTGGTAGCGAAGGAGAAAGA GGTCTACAACTTGTCCTTACAGCATTCTGCGTGGTAGTGAAGGAGAAGGA G	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02280.hp2 others(1): Show HG01167.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0286 others(1): Show a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0286 a0001c0004t0006g0287	4	314	0.0127	-100	c.69+ others(115): Show c.69+2109_69+2208delGTGGTAGCGAAGGAGAAAGAGGTCTACAAC TTGTCCTTACAGCATTCTGCGTGGTAGTGAAGGAGAAGGAGGTCTACAAC TTGTCCTTACAGCATTCTGC	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STAT3_chr17_42308324_42393442	42337921	TGACCTGA others(93): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp1 NA18979.hp2 others(3): Show HG00408.hp1 HG01981.hp1 NA18979.hp2 NA18999.hp2 NA19068.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0137 a0001c0001t0003g0067 a0001c0001t0003g0072 others(3): Show a0001c0001t0002g0137 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075	6	291	0.0206	-100	c.551 others(114): Show c.551-164_551-65delCAGGAGTATTCCCTCAGGTCAAGGAGTATTC CCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTCC AGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338181	TGACCTGA others(93): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	266	0.0038	-100	c.551 others(115): Show c.551-424_551-325delCAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC CAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338281	GGACCTGA others(93): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	294	0.0034	-100	c.550 others(115): Show c.550+350_551-425delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC CAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338381	TGACCTGA others(93): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	247	0.0040	-100	c.550 others(115): Show c.550+250_550+349delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC CAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338421	GGACCTGA others(93): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	296	0.0034	-100	c.550 others(115): Show c.550+210_550+309delAAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC CAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STK32B_chr4_5046480_5505989	5159576	AATATATA others(93): Show AATATATATATGAATATATATGAATATATATATGAATATATATGAATATA TATGAATATATATATGAATGTATATGAATATATATATGAATGTATATGAA T	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0034 a0002c0004t0002g0034	1	121	0.0083	-100	c.109 others(117): Show c.109-8714_109-8615delATGAATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATGTATATGAATATATATAT GAATGTATATGAATATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(93): Show AATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA T	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00738.hp2 others(18): Show HG00408.hp2 HG00544.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp2 HG02976.hp1 HG03017.hp1 HG03491.hp1 HG03516.hp2 NA18990.hp1 NA19009.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0002c0002t0001 a0002c0004t0009	a0001c0001t0001g0058 a0001c0001t0001g0097 a0001c0001t0001g0098 others(18): Show a0001c0001t0001g0058 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0163 a0001c0001t0002g0107 a0001c0001t0002g0158 a0001c0001t0003g0052 a0001c0001t0003g0062 a0001c0001t0003g0080 a0001c0001t0007g0150 a0001c0001t0023g0025 a0001c0001t0024g0157 a0001c0001t0025g0170 a0002c0002t0001g0021 a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0124 a0002c0004t0009g0149	21	95	0.2211	-100	c.261 others(119): Show c.261-14708_261-14609delATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316512	ATATATAT others(93): Show ATATATATTACATATATAATATATAATATATATTACATATATAATATATA ATATATATTACATATATAATATATAATATATATTACATATATAATATATA T	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 NA18944.hp2 HG03098.hp2 HG03209.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 a0001c0001t0001 a0001c0003t0001 a0002c0004t0002	a0001c0001t0001g0040 a0001c0003t0001g0018 a0002c0004t0002g0128 a0001c0001t0001g0040 a0001c0003t0001g0018 a0002c0004t0002g0128	3	148	0.0203	-100	c.261 others(119): Show c.261-14698_261-14599delCATATATAATATATAATATATATTAC ATATATAATATATAATATATATTACATATATAATATATAATATATATTAC ATATATAATATATATTATATATTA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316561	AATATATA others(93): Show AATATATATTACATATATAATATATAATATATATTACATATATAATATAT ATTATATATTATATATATAATATATAATATATTATATATATAATATATAA T	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01496.hp1 others(2): Show HG00741.hp2 HG01106.hp1 HG01496.hp1 HG01516.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0139 a0001c0001t0006g0047	5	124	0.0403	-100	c.261 others(119): Show c.261-14652_261-14553delATTACATATATAATATATAATATATA TTACATATATAATATATATTATATATTATATATATAATATATAATATATT ATATATATAATATATAATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STON2_chr14_81255652_81405324	81308820	ATATATGT others(93): Show ATATATGTGTGTGTGTGTATATATATATATATACACATACATACATACAT ACATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAGGCTGCT T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(66): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18959.hp1 NA18965.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19007.hp1 NA19030.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0012 a0014 a0015	a0001c0002 a0002c0001 a0003c0003 others(5): Show a0001c0002 a0002c0001 a0003c0003 a0006c0006 a0006c0011 a0012c0018 a0014c0017 a0015c0015	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0032 a0001c0002t0034 a0001c0002t0084 a0002c0001t0002 a0002c0001t0008 a0002c0001t0009 a0002c0001t0010 a0002c0001t0011 a0002c0001t0018 a0002c0001t0019 a0002c0001t0029 a0002c0001t0030 a0002c0001t0031 a0002c0001t0051 a0002c0001t0065 a0002c0001t0067 a0002c0001t0069 a0002c0001t0080 a0003c0003t0022 a0003c0003t0077 a0006c0006t0083 a0006c0011t0015 a0012c0018t0017 a0014c0017t0001 a0015c0015t0001	a0001c0002t0001g0050 a0001c0002t0001g0096 a0001c0002t0001g0097 others(66): Show a0001c0002t0001g0050 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0004g0127 a0001c0002t0004g0173 a0001c0002t0005g0133 a0001c0002t0012g0101 a0001c0002t0012g0129 a0001c0002t0012g0214 a0001c0002t0012g0225 a0001c0002t0013g0157 a0001c0002t0013g0202 a0001c0002t0032g0262 a0001c0002t0034g0034 a0001c0002t0034g0083 a0001c0002t0084g0259 a0002c0001t0002g0007 a0002c0001t0002g0009 a0002c0001t0002g0025 a0002c0001t0002g0046 a0002c0001t0002g0053 a0002c0001t0002g0062 a0002c0001t0002g0068 a0002c0001t0002g0090 a0002c0001t0002g0105 a0002c0001t0002g0107 a0002c0001t0002g0110 a0002c0001t0002g0126 a0002c0001t0002g0143 a0002c0001t0002g0146 a0002c0001t0002g0159 a0002c0001t0002g0220 a0002c0001t0002g0239 a0002c0001t0008g0190 a0002c0001t0008g0192 a0002c0001t0008g0203 a0002c0001t0009g0066 a0002c0001t0009g0100 a0002c0001t0009g0115 a0002c0001t0009g0147 a0002c0001t0010g0075 a0002c0001t0010g0112 a0002c0001t0010g0113 a0002c0001t0010g0135 a0002c0001t0010g0137 a0002c0001t0011g0120 a0002c0001t0011g0263 a0002c0001t0018g0020 a0002c0001t0018g0131 a0002c0001t0018g0201 a0002c0001t0019g0087 a0002c0001t0019g0242 a0002c0001t0029g0244 a0002c0001t0030g0141 a0002c0001t0031g0088 a0002c0001t0051g0102 a0002c0001t0065g0122 a0002c0001t0067g0145 a0002c0001t0069g0184 a0002c0001t0080g0165 a0003c0003t0022g0111 a0003c0003t0077g0128 a0006c0006t0083g0258 a0006c0011t0015g0208 a0012c0018t0017g0006 a0014c0017t0001g0134 a0015c0015t0001g0213	69	262	0.2634	-100	c.742 others(119): Show c.742+15097_742+15196delAAGCAGCCTTTCTGTCTCAAATCCTG CCACAACCCTTTAGTGTATGTATGTATGTATGTATGTATGTGTATATATA TATATATACACACACACACATATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
SYNPR_chr3_63273308_63621924	63313848	CATATATA others(93): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATATCCATA T	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	218	0.0046	-100	c.84+ others(117): Show c.84+35143_84+35242delCCATATATATATATCCATATATATATCC ATATATATATATATCCATATATATATATATCCATATATATATATATCCAT ATATATATATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TENM4_chr11_78647829_79446030	79190776	CCCTCTCC others(93): Show CCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCTTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02886.hp2 others(1): Show HG01884.hp1 HG02630.hp1 HG02886.hp2 HG03225.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0013 a0001c0001t0026 a0001c0001t0059 others(1): Show a0001c0001t0013 a0001c0001t0026 a0001c0001t0059 a0005c0009t0054	a0001c0001t0013g0070 a0001c0001t0026g0011 a0001c0001t0059g0085 others(1): Show a0001c0001t0013g0070 a0001c0001t0026g0011 a0001c0001t0059g0085 a0005c0009t0054g0083	4	87	0.0460	-100	c.-16 others(121): Show c.-163+24932_-163+25031delAGAGGGAGACGGGAGAGGGAGAGG GAGACGGGAGAGGGAGAGGGAGAAGGGAGAGGGAGAGGGAGACGGGAGAG GGAGAGGGAGAGGGAGACGGGAGAGG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TET2_chr4_105141876_105284803	105227492	TAGACCTT others(93): Show TAGACCTTCAATAGCAAGGTGTTTGAATATTTAGTTGCACAATAGAGCAG TATCTTAATATTGTATACCATATTAATTTTGTGTTCTCTGGTGTAAGAAA A	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG01192.hp2 others(43): Show HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01891.hp1 HG02071.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18951.hp1 NA18960.hp2 NA18973.hp2 NA18987.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19083.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0004 a0013 a0004 a0013	a0004c0004 a0004c0008 a0004c0011 others(3): Show a0004c0004 a0004c0008 a0004c0011 a0004c0018 a0004c0019 a0013c0014	a0004c0004t0004 a0004c0004t0007 a0004c0004t0010 others(28): Show a0004c0004t0004 a0004c0004t0007 a0004c0004t0010 a0004c0004t0013 a0004c0004t0018 a0004c0004t0028 a0004c0004t0033 a0004c0004t0037 a0004c0004t0039 a0004c0004t0042 a0004c0004t0048 a0004c0004t0058 a0004c0004t0072 a0004c0004t0074 a0004c0004t0084 a0004c0004t0094 a0004c0004t0099 a0004c0004t0100 a0004c0004t0101 a0004c0008t0008 a0004c0008t0019 a0004c0008t0059 a0004c0008t0066 a0004c0008t0067 a0004c0011t0008 a0004c0011t0040 a0004c0011t0047 a0004c0018t0019 a0004c0019t0081 a0013c0014t0060 a0013c0014t0064	a0004c0004t0004g0015 a0004c0004t0004g0035 a0004c0004t0004g0220 others(43): Show a0004c0004t0004g0015 a0004c0004t0004g0035 a0004c0004t0004g0220 a0004c0004t0004g0223 a0004c0004t0004g0225 a0004c0004t0007g0283 a0004c0004t0010g0226 a0004c0004t0010g0227 a0004c0004t0010g0228 a0004c0004t0010g0319 a0004c0004t0013g0056 a0004c0004t0013g0057 a0004c0004t0013g0221 a0004c0004t0013g0222 a0004c0004t0018g0036 a0004c0004t0018g0063 a0004c0004t0018g0120 a0004c0004t0028g0202 a0004c0004t0033g0058 a0004c0004t0033g0119 a0004c0004t0037g0016 a0004c0004t0037g0224 a0004c0004t0039g0068 a0004c0004t0042g0059 a0004c0004t0048g0017 a0004c0004t0058g0312 a0004c0004t0072g0062 a0004c0004t0074g0061 a0004c0004t0084g0072 a0004c0004t0094g0022 a0004c0004t0099g0060 a0004c0004t0100g0055 a0004c0004t0101g0075 a0004c0008t0008g0071 a0004c0008t0019g0327 a0004c0008t0019g0332 a0004c0008t0059g0323 a0004c0008t0066g0328 a0004c0008t0067g0070 a0004c0011t0008g0325 a0004c0011t0040g0329 a0004c0011t0047g0326 a0004c0018t0019g0324 a0004c0019t0081g0054 a0013c0014t0060g0074 a0013c0014t0064g0073	46	346	0.1329	-100	c.-46 others(117): Show c.-46-6403_-46-6304delGACCTTCAATAGCAAGGTGTTTGAATAT TTAGTTGCACAATAGAGCAGTATCTTAATATTGTATACCATATTAATTTT GTGTTCTCTGGTGTAAGAAAAA	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TET2_chr4_105141876_105284803	105284038	ACACACAC others(93): Show ACACACACATATATATATATATATATACGTGTATATATATATGTATATAT ATATATACGTATATATATATATGTATATATATATACACATATATATATAT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0245 a0003c0003t0002g0245	1	346	0.0029	-100	c.75 others(111): Show c.7520_*7619delCACACACATATATATATATATATATACGTGTATA TATATATGTATATATATATATACGTATATATATATATGTATATATATATA CACATATATATATATT	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding		4236		chr4	TogoVar
TEX19_chr17_82354247_82368775	82360979	GTTCCCTC others(93): Show GTTCCCTCAGTTTTCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAG GTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG T	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0043 a0003c0006t0002g0043	1	378	0.0026	-100	c.-27 others(117): Show c.-271-891_-271-792delTTTTCCCCAGTTTCCCTCAGGTTCCCTC AGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCC AGTTTCCCTCAGTTTCCCTCAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THOC5_chr22_29500879_29558757	29509608	TGAGAACA others(93): Show TGAGAACAAGGTGAGGGAGAGGTAAGGCACTGTTTAGACTGACAGGGAAC AGAGAACAAGGTGAGGGAGAGGTAAGGCACTGCTTAGACTGACAGGGAAC A	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	381	0.0026	-100	c.198 others(119): Show c.1989-1188_1989-1089delTGTTCCCTGTCAGTCTAAGCAGTGCC TTACCTCTCCCTCACCTTGTTCTCTGTTCCCTGTCAGTCTAAACAGTGCC TTACCTCTCCCTCACCTTGTTCTC	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	19/19			chr22	TogoVar
THOC5_chr22_29500879_29558757	29509640	TTTAGACT others(93): Show TTTAGACTGACAGGGAACAGAGAACAAGGTGAGGGAGAGGTAAGGCACTG CTTAGACTGACAGGGAACAGAGAACAAGGTAAGGGAGAGGTAAGGCACTG C	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02056.hp1 others(27): Show HG00558.hp2 HG00621.hp1 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18992.hp1 NA19002.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19086.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0007c0008t0004	a0001c0001t0001g0081 a0001c0001t0001g0217 a0001c0001t0001g0219 others(26): Show a0001c0001t0001g0081 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0002g0207 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0004g0013 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0004g0234 a0007c0008t0004g0218	30	377	0.0796	-100	c.198 others(119): Show c.1989-1220_1989-1121delGCAGTGCCTTACCTCTCCCTTACCTT GTTCTCTGTTCCCTGTCAGTCTAAGCAGTGCCTTACCTCTCCCTCACCTT GTTCTCTGTTCCCTGTCAGTCTAA	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	19/19			chr22	TogoVar
THSD7B_chr2_136760545_137682718	136890304	CTTCTTCT others(93): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC T	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0004 a0002c0030t0004	a0002c0030t0004g0051 a0002c0030t0004g0051	1	56	0.0179	-100	c.139 others(117): Show c.139+7989_139+8088delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCCTCTTCCTCTTCCTCTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM2_chr6_154990315_155262723	155028064	TATATAAT others(93): Show TATATAATATATGTACTGTGTTACATATATACTATATATAATATATGTAC TGTGTTACATATATACTATATATAATATATGTACTGTTACATATATACTA C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02976.hp2 others(2): Show HG01109.hp1 HG01496.hp1 HG02976.hp2 HG03098.hp1 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0002 a0002c0015 a0005c0012 others(1): Show a0001c0002 a0002c0015 a0005c0012 a0010c0058	a0001c0002t0012 a0002c0015t0002 a0005c0012t0006 others(2): Show a0001c0002t0012 a0002c0015t0002 a0005c0012t0006 a0005c0012t0018 a0010c0058t0005	a0001c0002t0012g0062 a0002c0015t0002g0208 a0005c0012t0006g0211 others(2): Show a0001c0002t0012g0062 a0002c0015t0002g0208 a0005c0012t0006g0211 a0005c0012t0018g0213 a0010c0058t0005g0085	5	222	0.0225	-100	c.-20 others(121): Show c.-209+32606_-209+32705delTATATAATATATGTACTGTGTTAC ATATATACTATATATAATATATGTACTGTTACATATATACTACATATAAT ATATGTACTGTGTTACATATATACTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029192	CACTGTAT others(93): Show CACTGTATGTACTATGTGTTATATACACTATATGTACTATGTGTTATATA CACTATATGTACTATGTGTTATATACACTATATGTACTATGTGTTATATA T	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	228	0.0044	-100	c.-20 others(121): Show c.-209+33704_-209+33803delGTATGTACTATGTGTTATATACAC TATATGTACTATGTGTTATATACACTATATGTACTATGTGTTATATACAC TATATGTACTATGTGTTATATATACT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TLE2_chr19_2992644_3034280	3026926	GACCTTGA others(93): Show GACCTTGAGGTCTATCTCAGAACCCTGAGGTCAATTTCAGAAATTTGAGG TCTATCTCAGAACCCTGAGGTCAATCTCAGAGCCCTGAGGTCTATCTCAG A	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG02293.hp1 others(4): Show HG01256.hp2 HG01361.hp2 HG02293.hp1 HG02300.hp2 NA18981.hp1 NA18999.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0002t0001g0047 a0001c0002t0001g0048	7	402	0.0174	-100	c.231 others(115): Show c.231+803_231+902delTCTGAGATAGACCTCAGGGCTCTGAGATTG ACCTCAGGGTTCTGAGATAGACCTCAAATTTCTGAAATTGACCTCAGGGT TCTGAGATAGACCTCAAGGT	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding	4/19			chr19	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(93): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT A	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG01261.hp2 others(12): Show HG00423.hp2 HG01099.hp2 HG01261.hp2 HG01516.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG02717.hp2 NA18747.hp2 NA18955.hp1 NA18964.hp1 NA19004.hp2 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0005 a0001c0002t0015	a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0003g0219 a0001c0001t0003g0234 a0001c0001t0003g0242 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0008g0155 a0001c0001t0010g0044 a0001c0001t0011g0023 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0186 a0001c0002t0015g0019	15	21	0.7143	-100	c.576 others(117): Show c.576+9302_576+9401delTAAAACTTTTCTTTAAAAGTTTCTTTAA AACTTTTCTTTAAAAGTTTCTTTAAAACTTTTCTTTAAAAGTTTCTTTAA AACTTTTCTTTAAAAGTTTCTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121748106	CTGGGGTA others(93): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA G	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02970.hp1 others(4): Show HG02055.hp1 HG02258.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 a0001c0001t0051 a0001c0001t0061	a0001c0001t0005g0008 a0001c0001t0009g0151 a0001c0001t0009g0152 others(4): Show a0001c0001t0005g0008 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0021g0011 a0001c0001t0035g0133 a0001c0001t0051g0063 a0001c0001t0061g0062	7	312	0.0224	-100	c.189 others(115): Show c.189-219_189-120delTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM255A_chrX_120253650_120316461	120296960	TAATATAT others(93): Show TAATATATAATATTATATATATTATATATATATTATATATAATATATAAT ATTATATATATTATATATATATAATATATAATATATAATATAATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03516.hp1 HG01106.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0292 a0001c0001t0001g0270 a0001c0001t0001g0292	2	301	0.0066	-100	c.202 others(117): Show c.202-3009_202-2910delTATATATATTATATTATATATTATATAT TATATATATATAATATATATAATATTATATATTATATATAATATATATAT AATATATATAATATTATATATT	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TNC_chr9_115014575_115123157	115069626	CCCTCCCT others(93): Show CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT T	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 NA18906.hp1 HG02559.hp2 HG03139.hp2 NA18906.hp1	a0003 a0003	a0003c0035 a0003c0077 a0003c0035 a0003c0077	a0003c0035t0004 a0003c0077t0004 a0003c0035t0004 a0003c0077t0004	a0003c0035t0004g0150 a0003c0035t0004g0151 a0003c0077t0004g0356 a0003c0035t0004g0150 a0003c0035t0004g0151 a0003c0077t0004g0356	3	362	0.0083	-100	c.321 others(119): Show c.3214+3877_3214+3976delAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGG	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TNK2_chr3_195858364_195913551	195880574	CAGCAATG others(93): Show CAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTGTAACACCCCCC CAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCACCTAAC T	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0320 a0002c0004t0002g0320	1	370	0.0027	-100	c.887 others(117): Show c.887+1377_888-1400delAGTTAGGTGATACAGGGATATATGCTGT GTCCTCTTCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGCTGT GTCCTCTCCGAGGGGCATTGCT	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195880719	CCCCCCCA others(93): Show CCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC A	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0111 a0001c0014t0004g0111	1	366	0.0027	-100	c.887 others(117): Show c.887+1232_887+1331delTGTTACAGGGATAGATGCTGTGTCCTCT CCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGCTGTGTCCTC TCCAAGGGGCATTGCTGGGGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TPO_chr2_1408463_1548673	1489924	GCACACAG others(93): Show GCACACAGGAGGAGTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTC CCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTC C	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp2 HG03654.hp2 others(8): Show HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp2 NA19088.hp2 NA20905.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004	a0003c0003t0001g0010 a0003c0003t0001g0045 a0003c0003t0004g0012 others(7): Show a0003c0003t0001g0010 a0003c0003t0001g0045 a0003c0003t0004g0012 a0003c0003t0004g0050 a0003c0003t0005g0001 a0003c0003t0005g0042 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0103	11	126	0.0873	-100	c.176 others(119): Show c.1768+1942_1768+2041delAGGAGTCACGACAGAGCAGTGTAAGA GCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1489940	ACGACAGA others(93): Show ACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA20752.hp1 HG00733.hp1 NA20752.hp1	a0004 a0014 a0004 a0014	a0004c0007 a0014c0029 a0004c0007 a0014c0029	a0004c0007t0004 a0014c0029t0001 a0004c0007t0004 a0014c0029t0001	a0004c0007t0004g0108 a0014c0029t0001g0096 a0004c0007t0004g0108 a0014c0029t0001g0096	2	120	0.0167	-100	c.176 others(119): Show c.1768+1955_1768+2054delGAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCGCGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1489968	TGGGTCCC others(93): Show TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACG A	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG06807.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0001 a0002c0002t0003 a0009c0012t0002 a0002c0002t0001 a0002c0002t0003 a0009c0012t0002	a0002c0002t0001g0006 a0002c0002t0003g0011 a0009c0012t0002g0126 a0002c0002t0001g0006 a0002c0002t0003g0011 a0009c0012t0002g0126	3	84	0.0357	-100	c.176 others(119): Show c.1768+1977_1768+2076delTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1489968	TGGGTCCC others(93): Show TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACG A	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0002 a0005c0014t0001g0002	2	83	0.0241	-100	c.176 others(119): Show c.1768+2049_1768+2148delGCGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490161	CGCCACGT others(93): Show CGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGC CGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGC T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(6): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG02015.hp2 NA18971.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0065 a0001c0001t0005g0077 a0001c0001t0010g0054	9	128	0.0703	-100	c.176 others(119): Show c.1768+2270_1768+2369delTGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPSB2_chr16_1223336_1235184	1231182	ACTAGTCG others(93): Show ACTAGTCGCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCC AGACCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGG T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02717.hp2 HG02965.hp1 others(1): Show HG00280.hp2 HG02717.hp2 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0062	4	342	0.0117	-100	c.-11 others(111): Show c.-1121_-1022delACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTC CATGGGGAGCTGGGTCTGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGC CGGGGGCTGCGACTAG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		999		chr16	TogoVar
TRIQK_chr8_92878534_92971144	92949613	AAGGGAGG others(93): Show AAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAGGAAAGGGAAGGAAAG AAAGAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAGAAAGGAAGG G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG02922.hp2 others(6): Show HG00544.hp1 HG01255.hp1 HG02922.hp2 HG03130.hp2 HG03831.hp1 HG04199.hp2 NA18962.hp2 NA19002.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0205 a0001c0002t0001g0032	9	340	0.0265	-100	c.-22 others(117): Show c.-22+4693_-22+4792delCCCTTCCTTTCTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCCTTCTCTTTCTTTCCTTCCCTTTCCTTCCTTTCTTC CTTCCTTCCTCCCTCCCTCCCT	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238868304	GCCCAAGT others(93): Show GCCCAAGTGCCGGGAGCCCCCCGCCCCCCAGCCTGCTCTGGTAAGCGTCG GGCTTCTGTCCAGATGACACAGCTAAGCAGGGTTTGGAAGAACAAAAAAC A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	336	0.0030	-100	c.35 others(119): Show c.35+19572_*35+19671delCCCAAGTGCCGGGAGCCCCCCGCCCC CCAGCCTGCTCTGGTAAGCGTCGGGCTTCTGTCCAGATGACACAGCTAAG CAGGGTTTGGAAGAACAAAAAACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TYMS_chr18_652653_678578	667417	GTGATGGT others(93): Show GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT GGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG T	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	476	0.0021	-100	c.455 others(117): Show c.455-1654_455-1555delTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGTGATGGT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar

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