Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PTGR1_chr9_111557567_111604647	111560982	GAGAGAGA others(121): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTG GAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCT AAAATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	408	0.0025	-128	c.20 others(11): Show c.2011_*2138del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1584		chr9	TogoVar
PTPRA_chr20_2868481_3043669	3018895	GCAGAGGG others(121): Show GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGATCCCCCAACC TCCCTCCCGGACAGGGCAGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02602.hp1 NA18952.hp2 others(7): Show HG01123.hp1 HG02602.hp1 NA18952.hp2 NA18953.hp2 NA18980.hp1 NA18985.hp1 NA18995.hp1 NA19060.hp2 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0210 a0001c0006t0001g0211 others(7): Show a0001c0006t0001g0001 a0001c0006t0001g0210 a0001c0006t0001g0211 a0001c0006t0001g0212 a0001c0006t0001g0213 a0001c0006t0001g0214 a0001c0006t0001g0215 a0001c0006t0001g0216 a0001c0006t0001g0217 a0001c0006t0001g0273	10	356	0.0281	-128	c.104 others(18): Show c.1041+983_1041+1110del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	13/23			chr20	TogoVar
PXMP2_chr12_132682587_132709985	132684290	GAGCTACC others(121): Show GAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACACA GGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGT CCCAGTACTCCACACAGGCTCTCATTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03130.hp1 HG02055.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0161 a0001c0002t0002g0048 a0001c0002t0002g0161	2	350	0.0057	-128	c.-33 others(11): Show c.-3380_-3253del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3296		chr12	TogoVar
RADIL_chr7_4792055_4888716	4808845	CTTCCAAC others(121): Show CTTCCAACGCCACTGCCCCTCCGCGTCTCCTTCCAACGCCACTGCCCCCC GTTCCGACGCCACTGCCCCCCCACGTCTCCTTCCAACGCCACTGCCCCTC CACGTCTCCTTCCGACGCCACTGCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0171 a0001c0006t0001g0171	1	292	0.0034	-128	c.214 others(19): Show c.2140-3257_2140-3130del	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RASA3_chr13_113972783_114137623	113991067	TGGGGCTG others(121): Show TGGGGCTGGAGAACAGGCGTGGCCAAGCTCACAGATGGGCAGCTGCACGG ACACCCAGGGCATGTGGGGCTGGAGATCAGGCGTGGCCAAGCTCACAGAT GGGCAGCTGTGCGGACACCCAGGGCATGC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00733.hp2 others(38): Show HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0003 a0001c0009t0008 a0001c0011t0001 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0004g0066 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0007g0034 a0001c0002t0001g0058 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0001c0009t0008g0048 a0001c0011t0001g0042 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	41	67	0.6119	-128	c.224 others(19): Show c.2245+1290_2245+1417del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	113991113	ACGGACAC others(121): Show ACGGACACCCAGGGCATGTGGGGCTGGAGATCAGGCGTGGCCAAGCTCAC AGATGGGCAGCTGTGCGGACACCCAGGGCATGCGGGGCTGGAGAACAGGC GTGGCCAAGCTCACAGATGGGCAGCTGCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03540.hp1 HG03130.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0039	3	67	0.0448	-128	c.224 others(19): Show c.2245+1244_2245+1371del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
RILPL1_chr12_123465054_123538719	123521643	ATATATAT others(121): Show ATATATATACACATATATGTATATATATAAATATATATATATACACACAT ATATGTATATATATATAAATATATATATACACACATATATGTATATATAT AAAAATATATATATACACACATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0102 a0002c0008t0017g0102	1	210	0.0048	-128	c.460 others(17): Show c.460+1724_460+1851del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RNF135_chr17_30966039_31004911	30979149	GGGCAGAG others(121): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC CCCACCCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02970.hp2 others(1): Show HG02109.hp2 HG02717.hp2 HG02970.hp2 HG03486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0014 a0005c0005t0001g0015 a0005c0005t0001g0002 a0005c0005t0001g0014 a0005c0005t0001g0015	4	266	0.0150	-128	c.373 others(17): Show c.373-5424_373-5297del	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPRY1_chr16_57181329_57245469	57200663	TGACCCCC others(121): Show TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGCGGCTGGCCGGGCTGGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02630.hp2 others(4): Show HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261	7	358	0.0196	-128	c.-15 others(19): Show c.-155-3839_-155-3712del	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SARDH_chr9_133658560_133743352	133682612	TGAGGTCT others(121): Show TGAGGTCTGCACTCAGCCCCTGTGCTGAAACCCACGCGCAGTGATGGTTG GAAACTGCTAGAAGCGAGGTCTGCACTCAGCCCCTGTGCTGAAACCCATG CGCAGTGATGGTTGGAAACTGCTAGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(141): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp2 NA18960.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0015	a0001c0001 a0001c0006 a0001c0007 others(37): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0024 a0001c0027 a0001c0030 a0001c0031 a0001c0033 a0001c0041 a0001c0048 a0001c0051 a0001c0052 a0001c0055 a0001c0059 a0001c0064 a0003c0003 a0003c0009 a0003c0013 a0003c0017 a0003c0022 a0003c0026 a0003c0028 a0003c0029 a0003c0032 a0003c0040 a0003c0050 a0003c0054 a0003c0056 a0003c0057 a0003c0061 a0003c0063 a0004c0067 a0005c0019 a0006c0038 a0006c0062 a0007c0036 a0008c0039 a0015c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0007t0001 a0001c0007t0002 a0001c0011t0001 a0001c0011t0003 a0001c0016t0002 a0001c0016t0003 a0001c0016t0004 a0001c0024t0001 a0001c0027t0001 a0001c0030t0002 a0001c0031t0002 a0001c0033t0001 a0001c0033t0004 a0001c0041t0001 a0001c0048t0002 a0001c0051t0002 a0001c0052t0001 a0001c0055t0001 a0001c0059t0002 a0001c0064t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0009t0001 a0003c0009t0002 a0003c0013t0004 a0003c0017t0002 a0003c0017t0004 a0003c0022t0002 a0003c0026t0001 a0003c0028t0001 a0003c0029t0001 a0003c0032t0001 a0003c0040t0003 a0003c0050t0002 a0003c0054t0001 a0003c0056t0004 a0003c0057t0002 a0003c0061t0002 a0003c0063t0002 a0004c0067t0004 a0005c0019t0001 a0006c0038t0001 a0006c0062t0002 a0007c0036t0007 a0008c0039t0001 a0015c0065t0001	a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 others(141): Show a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0003g0047 a0001c0001t0003g0180 a0001c0001t0003g0251 a0001c0001t0004g0071 a0001c0001t0009g0202 a0001c0006t0001g0136 a0001c0006t0001g0173 a0001c0006t0002g0010 a0001c0006t0002g0024 a0001c0006t0002g0213 a0001c0006t0002g0216 a0001c0006t0002g0217 a0001c0006t0003g0149 a0001c0006t0003g0153 a0001c0006t0004g0212 a0001c0007t0001g0077 a0001c0007t0001g0159 a0001c0007t0001g0162 a0001c0007t0001g0167 a0001c0007t0001g0175 a0001c0007t0002g0073 a0001c0011t0001g0100 a0001c0011t0001g0101 a0001c0011t0001g0108 a0001c0011t0003g0106 a0001c0016t0002g0249 a0001c0016t0003g0174 a0001c0016t0003g0187 a0001c0016t0004g0064 a0001c0024t0001g0095 a0001c0024t0001g0121 a0001c0027t0001g0102 a0001c0027t0001g0105 a0001c0030t0002g0231 a0001c0030t0002g0241 a0001c0031t0002g0243 a0001c0031t0002g0245 a0001c0033t0001g0146 a0001c0033t0004g0029 a0001c0041t0001g0091 a0001c0048t0002g0244 a0001c0051t0002g0032 a0001c0052t0001g0144 a0001c0055t0001g0155 a0001c0059t0002g0021 a0001c0064t0008g0055 a0003c0003t0001g0053 a0003c0003t0001g0143 a0003c0003t0001g0195 a0003c0003t0002g0242 a0003c0003t0002g0256 a0003c0003t0003g0045 a0003c0003t0003g0048 a0003c0003t0003g0158 a0003c0003t0004g0074 a0003c0003t0004g0248 a0003c0009t0001g0058 a0003c0009t0001g0157 a0003c0009t0002g0246 a0003c0009t0002g0250 a0003c0009t0002g0252 a0003c0009t0002g0253 a0003c0009t0002g0257 a0003c0013t0004g0023 a0003c0013t0004g0038 a0003c0013t0004g0049 a0003c0013t0004g0050 a0003c0013t0004g0051 a0003c0013t0004g0052 a0003c0017t0002g0006 a0003c0017t0002g0255 a0003c0017t0004g0004 a0003c0017t0004g0005 a0003c0022t0002g0028 a0003c0022t0002g0031 a0003c0026t0001g0260 a0003c0026t0001g0261 a0003c0028t0001g0085 a0003c0028t0001g0110 a0003c0029t0001g0089 a0003c0029t0001g0116 a0003c0032t0001g0142 a0003c0032t0001g0156 a0003c0040t0003g0122 a0003c0050t0002g0007 a0003c0054t0001g0145 a0003c0056t0004g0037 a0003c0057t0002g0228 a0003c0061t0002g0225 a0003c0063t0002g0223 a0004c0067t0004g0238 a0005c0019t0001g0079 a0005c0019t0001g0080 a0005c0019t0001g0081 a0006c0038t0001g0090 a0006c0062t0002g0039 a0007c0036t0007g0054 a0008c0039t0001g0128 a0015c0065t0001g0205	144	262	0.5496	-128	c.216 others(19): Show c.2163+2453_2163+2580del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133682774	CGCGCAGT others(121): Show CGCGCAGTGATGGTTGGAAACTGCTAGAAGCGAGGTCTGCACTCAGCCCC TGTGCTGAAACCCACGCGCAGTGATGGTTGGAAACTGCTAGAAGCGAGGT CTGCACTCAGCCCCTGTGCTGAAACCCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp1 HG01258.hp2 others(6): Show HG01081.hp2 HG01257.hp1 HG01258.hp2 HG02486.hp2 HG02647.hp2 HG03453.hp2 HG03579.hp1 HG03669.hp2 HG04204.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0037 a0004c0023 a0003c0003 a0003c0037 a0004c0023	a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0037t0003 a0004c0023t0002 a0004c0023t0005	a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0003g0135 others(6): Show a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0003g0135 a0003c0003t0003g0197 a0003c0003t0004g0003 a0003c0037t0003g0126 a0004c0023t0002g0236 a0004c0023t0002g0237 a0004c0023t0005g0002	9	262	0.0344	-128	c.216 others(19): Show c.2163+2291_2163+2418del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(121): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02486.hp1 others(4): Show HG01496.hp1 HG02280.hp1 HG02486.hp1 HG03098.hp2 HG03453.hp1 NA18906.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0004	a0001c0002t0002g0012 a0001c0002t0003g0043 a0001c0002t0006g0256 others(4): Show a0001c0002t0002g0012 a0001c0002t0003g0043 a0001c0002t0006g0256 a0001c0003t0004g0044 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0272	7	370	0.0189	-128	c.-47 others(11): Show c.-4727_-4600del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C2_chr17_132569_144067	141161	CTGGGGGG others(121): Show CTGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGA GCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATAGGGGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	402	0.0050	-128	c.22 others(11): Show c.2220_*2347del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2095		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159626116	AGATAGAT others(121): Show AGATAGATAGATAGATAGATAGATATATCTAGATATATATATATATCTAG ATATATCTATCTATCTAGATAGATAGATAGATAGATAGATAGATATATCT AGATATATATATATCTAGATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18906.hp2 NA19043.hp2 others(1): Show HG02897.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0002t0001g0085	4	100	0.0400	-128	c.64- others(19): Show c.64-138326_64-138199del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51645210	GTCAGCCC others(121): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAAGTGAGGGGCGCCT CTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCAGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0186 a0001c0002t0006g0186	1	202	0.0050	-128	c.-54 others(19): Show c.-54-17542_-54-17415del	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1288851	CCGTGTCT others(121): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0266 a0008c0007t0004g0266	1	290	0.0035	-128	c.166 others(17): Show c.1662+816_1662+943del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289415	CCGTGTCT others(121): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0156	1	290	0.0035	-128	c.166 others(17): Show c.1663-854_1663-727del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	258890	CTCCGCCA others(121): Show CTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	266	0.0038	-128	c.24 others(11): Show c.2471_*2598del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1809		chr5	TogoVar
SDHA_chr5_213320_262082	259919	TCAGAGCA others(121): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCCACAG AGCATTACCGTGTGAGCTCCGCCTCCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	266	0.0038	-128	c.35 others(11): Show c.3500_*3627del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2838		chr5	TogoVar
SDHA_chr5_213320_262082	261165	GTCACAGC others(121): Show GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	266	0.0038	-128	c.47 others(11): Show c.4746_*4873del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4084		chr5	TogoVar
SDHA_chr5_213320_262082	261265	CAGCATTA others(121): Show CAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG04228.hp2 HG02148.hp2 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0048 a0003c0006t0002g0065 a0003c0006t0002g0048 a0003c0006t0002g0065	2	266	0.0075	-128	c.48 others(11): Show c.4846_*4973del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4184		chr5	TogoVar
SDHA_chr5_213320_262082	261358	GCAGAGCA others(121): Show GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	266	0.0038	-128	c.49 others(11): Show c.4939_*5066del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4277		chr5	TogoVar
SELENOF_chr1_86857445_86919126	86899321	GTGGCCGG others(121): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGGGGGCCGACC CCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(72): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18949.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA19030.hp2 NA19089.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(65): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0006g0008 a0001c0001t0006g0093 a0001c0001t0008g0030 a0001c0002t0002g0014	75	226	0.3319	-128	c.252 others(17): Show c.252+3832_252+3959del	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39457372	AGATTATT others(121): Show AGATTATTATATATTATATAGTTATATATAAATCTTATATATAAGATTAT TATATATTATATAGTTATATATAAATCTTATGTATAAGATTATATATTAT ATAGTTATATATATAAATCTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02280.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0234 a0001c0001t0006g0235 others(1): Show a0001c0001t0006g0016 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236	5	302	0.0166	-128	c.46- others(15): Show c.46-4932_46-4805del	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SHB_chr9_37910898_38074227	37918374	CGTGTGTA others(121): Show CGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGTGGACCACTGAGGGCTG TGTGTGTGTGTGTGTGTGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGT GGACCACTGAGGGCTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0061 a0001c0011t0061	a0001c0011t0061g0199 a0001c0011t0061g0199	1	330	0.0030	-128	c.13 others(11): Show c.1319_*1446del	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1319		chr9	TogoVar
SHC2_chr19_411589_466033	458553	TGGAAGCG others(121): Show TGGAAGCGGGTCCTGGGGAGGCGGAAGCGGGTTCCGGGGGACGGGGAAGT GGGTTCCAGGGAGGCGGACGCGGGTTCCGGGGAGGCGGAAGCCGGTCTTG GGGAGGCGGAAGTGGGTTCCGGGGGAGGG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0188 a0002c0024t0003g0188	1	212	0.0047	-128	c.468 others(17): Show c.468+1848_468+1975del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SKI_chr1_2223319_2315213	2281469	GGACGCCC others(121): Show GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18906.hp1 NA18964.hp2 HG00673.hp1 NA18906.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025	a0001c0001t0015g0201 a0001c0001t0016g0317 a0001c0001t0025g0122 a0001c0001t0015g0201 a0001c0001t0016g0317 a0001c0001t0025g0122	3	330	0.0091	-128	c.970 others(19): Show c.970-21507_970-21380del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59696987	GTCAGCCC others(121): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCCGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00621.hp2 others(130): Show HG00099.hp2 HG00140.hp1 HG00621.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0007c0006 a0009c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0020 a0002c0002t0021 a0002c0002t0025 a0002c0002t0033 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0043 a0002c0007t0001 a0007c0006t0007 a0009c0011t0022	a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0222 others(127): Show a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0272 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0003g0279 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0293 a0001c0001t0008g0172 a0001c0001t0008g0232 a0001c0001t0008g0245 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0292 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0011g0061 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0013g0167 a0001c0001t0013g0191 a0001c0001t0015g0253 a0001c0001t0022g0189 a0001c0001t0034g0062 a0001c0001t0035g0064 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0115 a0002c0002t0001g0129 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0287 a0002c0002t0001g0300 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0008g0297 a0002c0002t0008g0303 a0002c0002t0009g0006 a0002c0002t0009g0200 a0002c0002t0009g0235 a0002c0002t0009g0242 a0002c0002t0009g0244 a0002c0002t0009g0252 a0002c0002t0009g0256 a0002c0002t0020g0194 a0002c0002t0020g0237 a0002c0002t0021g0270 a0002c0002t0025g0326 a0002c0002t0025g0343 a0002c0002t0033g0063 a0002c0002t0036g0298 a0002c0002t0037g0238 a0002c0002t0038g0271 a0002c0002t0039g0196 a0002c0002t0043g0319 a0002c0007t0001g0179 a0007c0006t0007g0318 a0009c0011t0022g0192	133	352	0.3778	-128	c.-37 others(19): Show c.-37+12364_-37+12491del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59697010	GCCCCGTC others(121): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCCGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTTCAGCCCCCCGCCCAGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01081.hp1 others(41): Show HG00099.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01975.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA19030.hp2 NA19043.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0001t0042 a0002c0002t0016 a0004c0004t0004	a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0013 others(39): Show a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0005g0001 a0001c0001t0005g0010 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0042 a0001c0001t0005g0048 a0001c0001t0007g0125 a0001c0001t0016g0009 a0001c0001t0017g0027 a0001c0001t0029g0031 a0001c0001t0030g0047 a0001c0001t0042g0090 a0002c0002t0016g0041 a0004c0004t0004g0011 a0004c0004t0004g0033 a0004c0004t0004g0039 a0004c0004t0004g0044 a0004c0004t0004g0053	44	352	0.1250	-128	c.-37 others(19): Show c.-37+12341_-37+12468del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC24A3_chr20_19207642_19727926	19678280	GCGGCCGG others(121): Show GCGGCCGGGCAGAGGCACCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01257.hp1 others(12): Show HG00735.hp2 HG01243.hp1 HG01257.hp1 HG01884.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02818.hp1 HG03225.hp2 HG03486.hp2 HG03831.hp1 NA18941.hp1 NA19043.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0005 a0006c0021	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003 a0001c0008t0021 a0002c0002t0003 a0002c0002t0007 a0002c0002t0014 a0002c0005t0001 a0006c0021t0003	a0001c0001t0001g0080 a0001c0001t0004g0111 a0001c0003t0001g0058 others(12): Show a0001c0001t0001g0080 a0001c0001t0004g0111 a0001c0003t0001g0058 a0001c0003t0003g0042 a0001c0004t0003g0115 a0001c0008t0021g0154 a0002c0002t0003g0030 a0002c0002t0003g0048 a0002c0002t0003g0106 a0002c0002t0003g0152 a0002c0002t0007g0109 a0002c0002t0014g0047 a0002c0005t0001g0068 a0002c0005t0001g0137 a0006c0021t0003g0044	15	160	0.0938	-128	c.768 others(17): Show c.768-3572_768-3445del	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19678286	GGGCAGAG others(121): Show GGGCAGAGGCACCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGACGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0057 a0001c0013t0002g0057	1	160	0.0063	-128	c.768 others(17): Show c.768-3562_768-3435del	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMYD3_chr1_245744347_246512279	245879902	CAGCACAG others(121): Show CAGCACAGGTGCGTTGCTGTACACACCAGAGATAGCACAGGTGCGTTGCT GTACACACCAGAGATAGCACAGGTGCGTTGCTGTACACACCAGAGATAGC ACAGGTGCGTTGCTGTACACACCAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	-128	c.814 others(19): Show c.814-16144_814-16017del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11			chr1	TogoVar
SPATA22_chr17_3435019_3476819	3464889	GGGGGGGG others(121): Show GGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCGGTCTGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCTCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0292 a0004c0004t0002g0292	1	420	0.0024	-128	c.173 others(17): Show c.173-2250_173-2123del	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
STARD13_chr13_33098137_33290755	33177858	GAAGGAAG others(121): Show GAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01884.hp2 others(28): Show HG00423.hp2 HG00544.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02165.hp1 HG03209.hp1 HG03471.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18987.hp2 NA18994.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0020 a0002c0003 a0002c0016 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 a0001c0004t0002 a0001c0007t0001 a0001c0020t0024 a0002c0003t0003 a0002c0016t0003 a0003c0006t0003	a0001c0001t0001g0224 a0001c0001t0002g0109 a0001c0001t0002g0236 others(28): Show a0001c0001t0001g0224 a0001c0001t0002g0109 a0001c0001t0002g0236 a0001c0001t0003g0047 a0001c0001t0004g0154 a0001c0002t0001g0022 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0133 a0001c0002t0001g0207 a0001c0002t0001g0221 a0001c0002t0001g0241 a0001c0002t0001g0250 a0001c0002t0002g0071 a0001c0002t0002g0217 a0001c0002t0021g0028 a0001c0004t0002g0063 a0001c0004t0002g0277 a0001c0007t0001g0027 a0001c0007t0001g0032 a0001c0007t0001g0085 a0001c0020t0024g0092 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0096 a0002c0016t0003g0017 a0002c0016t0003g0075 a0003c0006t0003g0042	31	302	0.1027	-128	c.170 others(19): Show c.170-10364_170-10237del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67593226	TCTACCCT others(121): Show TCTACCCTATAGGATATTTGCATATTCAATTGGTCTAACACATATAGCAC ATTCAATTGTGTATCCAGCAAATAGCATATTTAATTGGTCTAACACATCC CCAATGCCTAACAACTAAAAGTTGTTATC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01952.hp2 HG02109.hp2 others(19): Show HG01099.hp2 HG01952.hp2 HG02109.hp2 HG02129.hp2 HG02258.hp2 HG02451.hp1 HG02735.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03831.hp1 NA18747.hp2 NA18946.hp2 NA18960.hp2 NA18968.hp1 NA18992.hp1 NA19010.hp1 NA19030.hp2 NA19076.hp1 NA19088.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0016 a0002c0002 others(3): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0005c0007 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0016t0001 a0002c0002t0003 a0002c0002t0004 a0003c0003t0005 a0005c0007t0003 a0008c0011t0003	a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 others(19): Show a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0230 a0001c0001t0002g0241 a0001c0001t0004g0115 a0001c0001t0009g0214 a0001c0001t0011g0109 a0001c0016t0001g0088 a0002c0002t0003g0255 a0002c0002t0003g0260 a0002c0002t0004g0069 a0002c0002t0004g0258 a0003c0003t0005g0226 a0005c0007t0003g0250 a0008c0011t0003g0067	22	280	0.0786	-128	c.226 others(19): Show c.226+16101_226+16228del	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	2/10			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4366962	TGGAGTTT others(121): Show TGGAGTTTGCTAGAGGTCCACTCCAGACCCTGTTTGCCTGGGTGTCAGCG GCGGTGGCTGCAGAACAGCAGATTTTTGTGAACCGCGAATGCTGCTGTCT GATTGTTCCTCTGGAAGTTTTGTCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	392	0.0026	-128	c.101 others(19): Show c.1015-4836_1015-4709del	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	8/8			chr3	TogoVar
SV2C_chr5_76078383_76338956	76172292	GGGGGGGG others(121): Show GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	234	0.0043	-128	c.581 others(19): Show c.581-22619_581-22492del	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNPR_chr3_63273308_63621924	63313848	CATATATA others(121): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02258.hp2 others(7): Show HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(7): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0008g0106 a0001c0001t0008g0113 a0001c0001t0018g0107	10	246	0.0407	-128	c.84+ others(17): Show c.84+35117_84+35244del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(121): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01069.hp1 others(12): Show HG00423.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG02683.hp1 HG02735.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03704.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA19007.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0131 a0001c0001t0001g0163 a0001c0001t0002g0012 others(9): Show a0001c0001t0001g0131 a0001c0001t0001g0163 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0130 a0001c0001t0002g0195 a0001c0001t0003g0055 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0132 a0001c0001t0004g0171 a0001c0001t0006g0129	15	414	0.0362	-128	c.106 others(17): Show c.106+2902_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAF13_chr1_109059140_109081003	109072017	CACACATA others(121): Show CACACATATATATATATATATATATATACACACACATATATATATATATA TATATATATACACACACATATATATATATATATATATATATATATATATA CACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG02738.hp1 others(13): Show HG00280.hp1 HG00544.hp1 HG02738.hp1 NA18944.hp2 NA18947.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18981.hp1 NA18988.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0072 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0002g0068 a0001c0001t0002g0086 a0001c0001t0002g0214 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0004g0076	16	414	0.0387	-128	c.106 others(17): Show c.106+2842_106+2969del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TEX11_chrX_70523940_70913711	70679910	GTGAGGAG others(121): Show GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 NA18906.hp2 HG02451.hp1 HG02922.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0107 a0002c0002t0001g0016 a0002c0002t0001g0022 a0001c0001t0001g0107 a0002c0002t0001g0016 a0002c0002t0001g0022	3	229	0.0131	-128	c.115 others(19): Show c.1157-1149_1157-1022del	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	14/29			chrX	TogoVar
THEG_chr19_356747_381026	360278	CGGTCCCG others(121): Show CGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACCGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGGT TTGACCGTGGCTGTCGTTCTGACTCTGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02896.hp1 HG02897.hp2 HG01516.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0003 a0001c0001t0007g0226 a0001c0001t0005g0003 a0001c0001t0007g0226	3	370	0.0081	-128	c.17 others(11): Show c.1794_*1921del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1468		chr19	TogoVar
THEG_chr19_356747_381026	360535	GGTCCCGT others(121): Show GGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTT TGACTGTGGCTGTCGTTCCGACTCTGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0250 a0008c0010t0010g0250	1	370	0.0027	-128	c.15 others(11): Show c.1537_*1664del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1211		chr19	TogoVar
THEG_chr19_356747_381026	360675	CCTCAGGA others(121): Show CCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCG ACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTTTGACTGTGGCTG TCGTTCCGACTCTGACGGTCCCGTGGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	370	0.0027	-128	c.13 others(11): Show c.1397_*1524del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1071		chr19	TogoVar
THEG_chr19_356747_381026	360883	GGCTGGTT others(121): Show GGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTC TCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGAC AGTCCCGTGGGCCCTCAGGAGGAGCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0237 a0001c0001t0007g0237	1	370	0.0027	-128	c.11 others(11): Show c.1189_*1316del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		863		chr19	TogoVar
THEG_chr19_356747_381026	361139	AGCTGGTT others(121): Show AGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18984.hp1 NA19079.hp2 others(1): Show NA18951.hp2 NA18984.hp1 NA19079.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0285 a0002c0002t0001g0301 a0002c0002t0002g0040 others(1): Show a0002c0002t0001g0285 a0002c0002t0001g0301 a0002c0002t0002g0040 a0002c0002t0002g0041	4	370	0.0108	-128	c.93 others(10): Show c.933_*1060del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		607		chr19	TogoVar
THEG_chr19_356747_381026	361592	GTTTGACT others(121): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0190 a0001c0001t0010g0190	1	370	0.0027	-128	c.48 others(9): Show c.480_*607del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		154		chr19	TogoVar
THEG_chr19_356747_381026	377076	CCCCCCTG others(121): Show CCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0020 a0009c0011t0020	a0009c0011t0020g0115 a0009c0011t0020g0115	1	370	0.0027	-128	c.-12 others(11): Show c.-1234_-1107del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1051		chr19	TogoVar
THEG_chr19_356747_381026	377294	CCCCACCC others(121): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0201 a0007c0008t0004g0201	1	370	0.0027	-128	c.-14 others(11): Show c.-1452_-1325del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1269		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113506250	CCTGTTAT others(121): Show CCTGTTATGGGTGGGGAGGGTAAGGGGGAGTGGGCCGCGTGCTGCCTGGC CTGTGGAGGAAGAGGCTGTTATGGGTGGGGAGGGTAAGGGGGTGTCAGCC AGTGGCTGCCTGGCCTGTGGAGGAAGAAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0075 a0003c0016t0002g0075	1	368	0.0027	-128	c.103 others(19): Show c.1038+2703_1038+2830del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr13	TogoVar

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