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
ARHGEF10_chr8_1818926_1963641	1849982	A A	ATGGACAC others(213): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0045 a0001c0035t0001g0045	1	363	0.0028	220	c.37+ others(235): Show c.37+6677_37+6678insGTGGACACAGAGGGCAAATGCTGAGGAGGG TGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(213): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGTGTGGGGCGGCCACG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0117 a0001c0117	a0001c0117t0005 a0001c0117t0005	a0001c0117t0005g0305 a0001c0117t0005g0305	1	363	0.0028	220	c.37+ others(235): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850152	G G	GGCTGCAT others(213): Show GGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAA TGCTGAGGAGGGCATTGGCTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0098 a0010c0098	a0010c0098t0003 a0010c0098t0003	a0010c0098t0003g0203 a0010c0098t0003g0203	1	363	0.0028	220	c.37+ others(235): Show c.37+6718_37+6719insTGCATGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGT GGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCG GCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACG TGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850158	G G	GTGGACAC others(213): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGA GGAGGGCATTGGCTAGCCGCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0065 a0001c0010t0001g0065	1	363	0.0028	220	c.37+ others(235): Show c.37+6757_37+6758insCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTG GGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAG CCGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(213): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACA CAGAGGGCAAATGCTGAGGAGGGTGTGGGCCGGCTGCATGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0076 a0001c0004t0039g0076	1	363	0.0028	220	c.37+ others(235): Show c.37+6752_37+6753insATTGGCTAGCCGCAGGGACACAGAGGGCAA ATGCTGAGGAGGGTGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTG AGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGG GCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTG GCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(213): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAAT GCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0119 a0001c0119	a0001c0119t0001 a0001c0119t0001	a0001c0119t0001g0234 a0001c0119t0001g0234	1	363	0.0028	220	c.37+ others(235): Show c.37+6757_37+6758insCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGTGTG GGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAG CCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(213): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACATGGGCA TGGACGGCAAATGCTAAGGAGGGCGTGGGGCAGTCGCGTGGACACAGACG GCAAATGCTGAGGAGGGTGTGGGGCGGCCACATGGGCATGGATGGCAAAT GCTAAGGAGGGCGTGGGGCAGTCGCGTGGACACAGACGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01358.hp2 others(4): Show HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01978.hp2 HG01993.hp1 HG02148.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0013 others(3): Show a0001c0003 a0001c0005 a0001c0013 a0001c0018 a0001c0135 a0002c0074	a0001c0003t0001 a0001c0005t0001 a0001c0013t0001 others(3): Show a0001c0003t0001 a0001c0005t0001 a0001c0013t0001 a0001c0018t0024 a0001c0135t0003 a0002c0074t0002	a0001c0003t0001g0033 a0001c0003t0001g0059 a0001c0005t0001g0051 others(4): Show a0001c0003t0001g0033 a0001c0003t0001g0059 a0001c0005t0001g0051 a0001c0013t0001g0017 a0001c0018t0024g0086 a0001c0135t0003g0163 a0002c0074t0002g0052	7	363	0.0193	220	c.37+ others(235): Show c.37+6776_37+6777insCGGCAAATGCTAAGGAGGGCGTGGGGCAGT CGCGTGGACACAGACGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACATG GGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGTCGCGTGGACACA GACGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGC AAATGCTGAGGAGGGCGTGGGGCGGCCACATGGGCATGGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(213): Show TGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGCCGGCTGCATGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0121 a0002c0121	a0002c0121t0013 a0002c0121t0013	a0002c0121t0013g0110 a0002c0121t0013g0110	1	363	0.0028	220	c.37+ others(235): Show c.37+6751_37+6752insTGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCATT GGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(213): Show TGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACA CAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0006 a0004c0051t0006	a0004c0051t0006g0319 a0004c0051t0006g0319	1	363	0.0028	220	c.37+ others(235): Show c.37+6751_37+6752insTGTGGGGCGGCCACGTGGACACAGAGGGCA AATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCATT GGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850188	C C	CGTGGGCC others(213): Show CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACATGG GCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGTCGCGTGGACACAG ACGGCAAATGCTGAGGAGGGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18945.hp2 HG02165.hp2 NA18945.hp2	a0001 a0001	a0001c0008 a0001c0042 a0001c0008 a0001c0042	a0001c0008t0037 a0001c0042t0038 a0001c0008t0037 a0001c0042t0038	a0001c0008t0037g0154 a0001c0042t0038g0155 a0001c0008t0037g0154 a0001c0042t0038g0155	2	363	0.0055	220	c.37+ others(235): Show c.37+6757_37+6758insCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGGCGGCCACATGGGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAG TCGCGTGGACACAGACGGCAAATGCTGAGGAGGGTGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850239	C C	CGGCTGCG others(213): Show CGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTG CGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGA CACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGA GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAA ATGCTGAGGAGGGCATTGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0019 a0001c0023t0010 a0001c0001t0019 a0001c0023t0010	a0001c0001t0019g0320 a0001c0023t0010g0160 a0001c0001t0019g0320 a0001c0023t0010g0160	2	363	0.0055	220	c.37+ others(235): Show c.37+6803_37+6804insGGCTGCGTGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873435	C C	CCCGCGGG others(213): Show CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTGGAGAGGTGCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACC CGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATT TCCTCGTTGCGTTGAGACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(83): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02717.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0011 a0013 a0014 a0025	a0001c0003 a0001c0004 a0001c0006 others(41): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0045 a0001c0046 a0001c0047 a0001c0062 a0001c0063 a0001c0066 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0110 a0001c0112 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0123 a0002c0027 a0002c0028 a0002c0058 a0002c0059 a0002c0060 a0002c0061 a0002c0108 a0005c0087 a0006c0065 a0006c0113 a0011c0029 a0013c0056 a0013c0057 a0014c0109 a0025c0055	a0001c0003t0035 a0001c0003t0068 a0001c0004t0002 others(55): Show a0001c0003t0035 a0001c0003t0068 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0004t0039 a0001c0004t0048 a0001c0006t0001 a0001c0006t0050 a0001c0007t0001 a0001c0008t0002 a0001c0011t0001 a0001c0011t0002 a0001c0011t0003 a0001c0011t0054 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0001c0015t0008 a0001c0015t0060 a0001c0045t0010 a0001c0046t0001 a0001c0047t0009 a0001c0062t0002 a0001c0063t0002 a0001c0066t0022 a0001c0068t0004 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0110t0046 a0001c0112t0017 a0001c0114t0017 a0001c0115t0005 a0001c0116t0004 a0001c0117t0005 a0001c0118t0008 a0001c0119t0001 a0001c0120t0057 a0001c0123t0001 a0002c0027t0005 a0002c0027t0006 a0002c0028t0001 a0002c0058t0003 a0002c0059t0002 a0002c0060t0012 a0002c0061t0025 a0002c0108t0004 a0005c0087t0002 a0006c0065t0017 a0006c0113t0070 a0011c0029t0007 a0011c0029t0041 a0013c0056t0002 a0013c0057t0001 a0014c0109t0044 a0025c0055t0045	a0001c0003t0035g0180 a0001c0003t0068g0338 a0001c0004t0002g0071 others(83): Show a0001c0003t0035g0180 a0001c0003t0068g0338 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0230 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0324 a0001c0004t0002g0340 a0001c0004t0004g0140 a0001c0004t0005g0299 a0001c0004t0013g0018 a0001c0004t0039g0076 a0001c0004t0048g0104 a0001c0006t0001g0008 a0001c0006t0001g0073 a0001c0006t0001g0193 a0001c0006t0001g0194 a0001c0006t0001g0219 a0001c0006t0001g0260 a0001c0006t0001g0263 a0001c0006t0050g0094 a0001c0007t0001g0218 a0001c0007t0001g0268 a0001c0008t0002g0221 a0001c0011t0001g0015 a0001c0011t0001g0249 a0001c0011t0001g0253 a0001c0011t0002g0082 a0001c0011t0003g0144 a0001c0011t0054g0228 a0001c0013t0001g0017 a0001c0013t0001g0029 a0001c0013t0001g0225 a0001c0014t0002g0242 a0001c0014t0002g0250 a0001c0014t0002g0254 a0001c0014t0002g0256 a0001c0015t0001g0262 a0001c0015t0001g0281 a0001c0015t0001g0322 a0001c0015t0008g0314 a0001c0015t0060g0109 a0001c0045t0010g0187 a0001c0045t0010g0226 a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0331 a0001c0047t0009g0334 a0001c0062t0002g0208 a0001c0063t0002g0209 a0001c0066t0022g0227 a0001c0068t0004g0167 a0001c0069t0001g0012 a0001c0070t0001g0130 a0001c0071t0002g0131 a0001c0110t0046g0107 a0001c0112t0017g0124 a0001c0114t0017g0122 a0001c0115t0005g0286 a0001c0116t0004g0171 a0001c0117t0005g0305 a0001c0118t0008g0294 a0001c0119t0001g0234 a0001c0120t0057g0134 a0001c0123t0001g0335 a0002c0027t0005g0298 a0002c0027t0006g0100 a0002c0028t0001g0223 a0002c0028t0001g0285 a0002c0058t0003g0137 a0002c0059t0002g0280 a0002c0060t0012g0284 a0002c0061t0025g0292 a0002c0108t0004g0142 a0005c0087t0002g0276 a0006c0065t0017g0125 a0006c0113t0070g0304 a0011c0029t0007g0202 a0011c0029t0041g0201 a0013c0056t0002g0246 a0013c0057t0001g0283 a0014c0109t0044g0121 a0025c0055t0045g0108	86	363	0.2369	220	c.680 others(237): Show c.680-3101_680-3100insGGAGAGGTGCCGCGGGGTAGTGCACCCG CATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTC CTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT GCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTG AGACGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(213): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0234 a0001c0001t0010g0234	1	264	0.0038	220	c.102 others(237): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(213): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	220	c.102 others(237): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(213): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	264	0.0038	220	c.102 others(237): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATP10A_chr15_25673712_25868327	25757928	C C	CCACCTGC others(213): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCTAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0031 a0031	a0031c0057 a0031c0057	a0031c0057t0001 a0031c0057t0001	a0031c0057t0001g0013 a0031c0057t0001g0013	1	300	0.0033	220	c.655 others(239): Show c.655-21788_655-21787insATAGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757984	T T	TCACCTGC others(213): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTCATTCCGAC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	300	0.0033	220	c.655 others(239): Show c.655-21844_655-21843insGTCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758544	C C	CCACCTGC others(213): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	300	0.0033	220	c.655 others(239): Show c.655-22404_655-22403insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758628	C C	CCACCTGC others(213): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	300	0.0033	220	c.654 others(239): Show c.654+22390_654+22391insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGT TAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(213): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	300	0.0033	220	c.654 others(239): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160654014	T T	TATAAATA others(213): Show TATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTA TATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATA TATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATACAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0008 a0001c0028t0008	a0001c0028t0008g0029 a0001c0028t0008g0029	1	236	0.0042	220	c.676 others(237): Show c.676-4759_676-4758insGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATAGTA TATACGTATATACAACATATATTTATATATGTATATACGTATATACAACA TATATTTATATATGTATATACGTATATACAACATATATTTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP9B_chr18_79064394_79383283	79358568	T T	TGTGTGAG others(213): Show TGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTG GGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GTCCTGGGTCTGGAGGTGTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	298	0.0034	220	c.290 others(237): Show c.2904-777_2904-776insGTGCCCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGG GTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGG TGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTC TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(213): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCC ACCCATCCATCCATTCATCCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	252	0.0040	220	c.355 others(239): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTG GGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGA TGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(213): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGG GAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGG AGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	298	0.0034	220	c.51+ others(233): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCGTTCTT others(213): Show TCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTC CTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTC CCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTC CTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTC CCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	304	0.0033	220	c.151 others(241): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG GGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGAA GGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGGAGGGAAGAACG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BET1L_chr11_197924_212399	202763	G G	GCAGGGTT others(213): Show GCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGGAGTGAATGAGGG AAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGGGTGAAT GAGGGAAGGGACAGGGTTTACAGCACCGGTGCTCATGGCCAGCCACGGAG TGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCA CGGGGTGAATGAGGGAAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19077.hp2 NA18612.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	402	0.0050	220	c.25 others(231): Show c.2538_*2539insTCCCTTCCCTCATTCACCCCGTGGCTGGCCATGG GCACAGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACTCCGTGGCTGGC CATGAGCACCGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACCCCGTGG CTGGCCATGAGCACTGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACTC CGTGGCTGGCCATGAGCACAGGTGCTGTAAACCCTG	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding		160		chr11	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(213): Show ATATATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATACCCATGGGTATATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	386	0.0026	220	c.-81 others(239): Show c.-81-13410_-81-13409insTATATACCCATGGGTATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TACCCATGGGTATATATATATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATACCCATGGGTATATATATATATATA TATATATACCCATGGGTATATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(213): Show CCCTCTCCTCCTCCCCTCCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCTCC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0091 a0001c0013t0002g0091	1	330	0.0030	220	c.431 others(237): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCCTCCCCTCCT CCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565249	A A	ATATTACA others(213): Show ATATTACATAATATGTAATATAATATTTATATTACATAATATGTAATATA ATATTATATTACATAATATGTAATATAATATTTATATTACATATTATGTA ATATAATATTTATATTACATATTATGTAATATAATATTTATATTACATAA TATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATATT ACATATTATGTAATATAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0149 a0006c0007t0001g0152 a0001c0001t0001g0149 a0006c0007t0001g0152	2	218	0.0092	220	c.314 others(239): Show c.314-51311_314-51310insATATTATATTACATAATATGTAATAT AAATATTATATTACATAATATGTAATATAAATATTATATTACATATTATG TAATATAAATATTATATTACATAATATGTAATATAAATATTATATTACAT AATATGTAATATAAATATTATATTACATATTATGTAATATAATATTATAT TACATATTATGTAATATAAATATTATATTACATATTATGTAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C20orf96_chr20_265863_295750	278933	A A	AGGGAGGG others(213): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGG CGGGACGGAGGGACGGAGGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18992.hp1 NA19081.hp2 HG02273.hp1 NA18992.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0321 a0001c0003t0001g0337 a0001c0003t0001g0314 a0001c0003t0001g0321 a0001c0003t0001g0337	3	410	0.0073	220	c.465 others(235): Show c.465+238_465+239insGCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGC CCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGACGG others(213): Show CGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAG GGCGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGG AGGGCGGGAGGGATGGAGGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18959.hp2 NA19054.hp2 others(2): Show NA18944.hp2 NA18959.hp2 NA19054.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0060 a0001c0005t0001g0102 a0001c0005t0001g0103 others(2): Show a0001c0005t0001g0060 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0004g0105	5	410	0.0122	220	c.465 others(235): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCGCCCTCCGTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(213): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0035 a0035	a0035c0030 a0035c0030	a0035c0030t0002 a0035c0030t0002	a0035c0030t0002g0008 a0035c0030t0002g0008	1	326	0.0031	220	c.145 others(237): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(213): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00642.hp1 others(65): Show HG00140.hp1 HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18963.hp2 NA18970.hp1 NA18991.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(11): Show a0002 a0003 a0006 a0007 a0011 a0015 a0021 a0027 a0033 a0040 a0046 a0048 a0050 a0051	a0002c0006 a0002c0013 a0003c0003 others(15): Show a0002c0006 a0002c0013 a0003c0003 a0003c0015 a0003c0046 a0006c0008 a0006c0010 a0007c0007 a0011c0011 a0015c0016 a0021c0049 a0027c0028 a0033c0027 a0040c0032 a0046c0047 a0048c0048 a0050c0026 a0051c0040	a0002c0006t0001 a0002c0013t0001 a0003c0003t0001 others(15): Show a0002c0006t0001 a0002c0013t0001 a0003c0003t0001 a0003c0015t0001 a0003c0046t0001 a0006c0008t0001 a0006c0010t0001 a0007c0007t0001 a0011c0011t0001 a0015c0016t0001 a0021c0049t0001 a0027c0028t0001 a0033c0027t0001 a0040c0032t0001 a0046c0047t0001 a0048c0048t0001 a0050c0026t0001 a0051c0040t0001	a0002c0006t0001g0004 a0002c0013t0001g0311 a0002c0013t0001g0312 others(65): Show a0002c0006t0001g0004 a0002c0013t0001g0311 a0002c0013t0001g0312 a0002c0013t0001g0313 a0003c0003t0001g0002 a0003c0003t0001g0149 a0003c0003t0001g0153 a0003c0003t0001g0155 a0003c0003t0001g0157 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0187 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0210 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0323 a0003c0015t0001g0150 a0003c0015t0001g0166 a0003c0046t0001g0175 a0006c0008t0001g0158 a0006c0010t0001g0221 a0006c0010t0001g0222 a0006c0010t0001g0224 a0007c0007t0001g0030 a0007c0007t0001g0139 a0007c0007t0001g0142 a0007c0007t0001g0143 a0007c0007t0001g0144 a0011c0011t0001g0002 a0011c0011t0001g0156 a0011c0011t0001g0190 a0011c0011t0001g0199 a0015c0016t0001g0171 a0015c0016t0001g0183 a0015c0016t0001g0195 a0021c0049t0001g0177 a0027c0028t0001g0140 a0033c0027t0001g0138 a0040c0032t0001g0227 a0046c0047t0001g0152 a0048c0048t0001g0165 a0050c0026t0001g0141 a0051c0040t0001g0145	68	326	0.2086	220	c.145 others(237): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176973	A A	ATCTGTAT others(213): Show ATCTGTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCT GTATACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGT ATACATATGTGTATACATATCTGTATACATATGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACAGATCTGTATACATATGT ATACAGATCTGTATACATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01106.hp2 others(2): Show HG00099.hp1 HG00733.hp2 HG01106.hp2 HG03490.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0202 others(2): Show a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0202 a0001c0001t0002g0314 a0002c0002t0001g0319	5	342	0.0146	220	c.366 others(237): Show c.366+3771_366+3772insCATATGTATACAGATCTGTATACATATG TATACAGATCTGTATACATATGTATACAGATATGTATACATATGTATACA GATATGTATACATATGTATACAGATATGTATACACATATGTATACAGATC TGTATACACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACATATGTATACAGATCTGTATACACATATGTATACAGA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CABS1_chr4_70329981_70342116	70336687	G G	GCAATTTT others(213): Show GCAATTTTTTCATTAGTATTTCATCAGTGATTCTCTTCTATTTAAAAAAT TTTTAATCCTCATATAAGAATTAAGACAATTCAGTAATTGTTTAGCACCC ACATGTAAGATACATAAGATTTATGATAGGGTTCTTGGCACATGTTAGAT ACAAACTAAAGCAAAATGATATTTTACAAATATGCATATTTGTCAGAAAA ATGTTCTGTAAACATATACAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp2 HG01515.hp1 others(2): Show HG01257.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	5	446	0.0112	220	c.12 others(236): Show c.120-272_*120-53dupTTTCATTAGTATTTCATCAGTGATTCTCT TCTATTTAAAAAATTTTTAATCCTCATATAAGAATTAAGACAATTCAGTA ATTGTTTAGCACCCACATGTAAGATACATAAGATTTATGATAGGGTTCTT GGCACATGTTAGATACAAACTAAAGCAAAATGATATTTTACAAATATGCA TATTTGTCAGAAAAATGTTCTGTAAACATATACATCAATTT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGTCGG others(213): Show ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0031 a0002c0008t0019g0031	1	338	0.0030	220	c.300 others(237): Show c.300-8868_300-8867insTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGTCGG others(213): Show ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0005 a0058 a0005 a0058	a0005c0023 a0058c0048 a0005c0023 a0058c0048	a0005c0023t0003 a0058c0048t0016 a0005c0023t0003 a0058c0048t0016	a0005c0023t0003g0129 a0058c0048t0016g0032 a0005c0023t0003g0129 a0058c0048t0016g0032	2	338	0.0059	220	c.300 others(237): Show c.300-8868_300-8867insTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(213): Show AGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	220	c.82 others(231): Show c.8229_*8230insGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGG CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAG	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		864		chr19	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(213): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGA GTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAG GGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	340	0.0029	220	c.104 others(239): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN12_chr19_38725192_38749474	38735727	G G	GGGGGCGG others(213): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCT GCGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	342	0.0029	220	c.158 others(237): Show c.1584-184_1584-183insGCCCCCAGAACCCCCGCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAGAACCA CCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCC CCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAAGAA others(213): Show AGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GGAAGGGGAGGGAGGGGGAGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGA GAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGA AGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	1	364	0.0028	220	c.234 others(237): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC77_chr12_396644_447642	419795	A A	ACTTCTGT others(213): Show ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCC TCCATGCTCCATTACAGTGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0387 a0002c0002t0001g0387	1	432	0.0023	220	c.413 others(237): Show c.413+1194_413+1195insCACACATAGCAGCACACTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420274	T T	TACACACA others(213): Show TACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	432	0.0023	220	c.413 others(237): Show c.413+1662_413+1663insCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420346	A A	AAACACAC others(213): Show AAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	432	0.0023	220	c.413 others(237): Show c.413+1712_413+1713insCACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421822	A A	AAAATACA others(213): Show AAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACCCTCCATACTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp1 HG02602.hp1 others(3): Show HG01175.hp1 HG01517.hp1 HG02602.hp1 HG02615.hp1 NA18952.hp2 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0257 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0257 a0001c0001t0001g0274 a0003c0003t0001g0073 a0003c0003t0002g0229	6	432	0.0139	220	c.413 others(237): Show c.413+3188_413+3189insATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(213): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGG GGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACC GGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAG GGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0063 a0001c0001t0061 a0001c0001t0063	a0001c0001t0061g0049 a0001c0001t0063g0046 a0001c0001t0061g0049 a0001c0001t0063g0046	2	256	0.0078	220	c.727 others(237): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(213): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	442	0.0023	220	c.27 others(231): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(213): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp2 HG01975.hp1 others(5): Show HG00597.hp2 HG01943.hp2 HG01975.hp1 HG02080.hp2 HG02300.hp2 HG03239.hp2 NA19058.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	8	442	0.0181	220	c.27 others(231): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(213): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01192.hp1 others(6): Show HG01109.hp2 HG01167.hp1 HG01192.hp1 HG02083.hp1 HG02735.hp1 HG02738.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 a0001c0001t0001 a0001c0001t0006 a0001c0001t0037	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0006g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0006g0001 a0001c0001t0037g0089	9	442	0.0204	220	c.27 others(231): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(213): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	442	0.0023	220	c.27 others(231): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar

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