Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
INPP5A_chr10_132532787_132788480	132772567	ACCCCACG others(209): Show ACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	168	0.0060	-216	c.978 others(17): Show c.978-5095_978-4880del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178759876	ATATATAT others(209): Show ATATATATATATATATCCAAGAGGATATATCTATATATATATATATCCAA GAGGATATATCTATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATCT ATATATATATATATATATATCCAAGAGGATATATCTATATATATATATAT AGCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0010 a0001c0001t0002g0034	2	231	0.0087	-216	c.-67 others(19): Show c.-67-47451_-67-47236del	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNDC1_chr10_133155219_133231412	133163886	AAATCCCT others(209): Show AAATCCCTCCTCCCACCTGGGATGGGGGTGGAGTTCGTGGCCACCTGCCT TCCCAAATCCCTCCTCCCACCTGGGATGGGGGTGGAGTTCGTGGCCACCT GCCTTCCCAAATCCCTCCTCCCACGTGGGATGGGGGTGGAGTTCATGTCC ACCTGCCTTCCCAAATCCCTCCTCCCACCTGGGATGGGGGTGGAGTTCAT GTCCACCTGCCTTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(64): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02083.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp1 NA18522.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp2 NA18999.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0018 a0021 a0024 a0026	a0001c0003 a0001c0008 a0001c0035 others(21): Show a0001c0003 a0001c0008 a0001c0035 a0001c0036 a0001c0038 a0001c0039 a0002c0006 a0002c0022 a0002c0041 a0003c0032 a0003c0033 a0003c0034 a0004c0024 a0005c0021 a0006c0019 a0009c0014 a0010c0037 a0011c0020 a0012c0023 a0013c0018 a0018c0042 a0021c0040 a0024c0031 a0026c0030	a0001c0003t0001 a0001c0003t0003 a0001c0008t0001 others(29): Show a0001c0003t0001 a0001c0003t0003 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0006 a0001c0035t0003 a0001c0036t0001 a0001c0038t0003 a0001c0039t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0025 a0002c0022t0001 a0002c0041t0002 a0003c0032t0008 a0003c0033t0003 a0003c0034t0001 a0004c0024t0002 a0005c0021t0002 a0006c0019t0003 a0009c0014t0001 a0009c0014t0016 a0010c0037t0024 a0011c0020t0002 a0012c0023t0002 a0013c0018t0001 a0013c0018t0005 a0018c0042t0002 a0021c0040t0006 a0024c0031t0003 a0026c0030t0008	a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 others(58): Show a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0124 a0001c0003t0001g0268 a0001c0003t0001g0273 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0003g0304 a0001c0008t0001g0265 a0001c0008t0001g0269 a0001c0008t0002g0286 a0001c0008t0004g0015 a0001c0008t0006g0010 a0001c0035t0003g0260 a0001c0036t0001g0272 a0001c0038t0003g0267 a0001c0039t0001g0300 a0002c0006t0001g0310 a0002c0006t0002g0278 a0002c0006t0002g0279 a0002c0006t0002g0283 a0002c0006t0002g0284 a0002c0006t0002g0289 a0002c0006t0002g0290 a0002c0006t0002g0291 a0002c0006t0002g0292 a0002c0006t0002g0295 a0002c0006t0025g0276 a0002c0022t0001g0288 a0002c0041t0002g0271 a0003c0032t0008g0305 a0003c0033t0003g0262 a0003c0034t0001g0309 a0004c0024t0002g0012 a0005c0021t0002g0285 a0005c0021t0002g0287 a0006c0019t0003g0274 a0006c0019t0003g0275 a0009c0014t0001g0259 a0009c0014t0001g0270 a0009c0014t0016g0125 a0010c0037t0024g0307 a0011c0020t0002g0257 a0011c0020t0002g0258 a0012c0023t0002g0302 a0012c0023t0002g0303 a0013c0018t0001g0263 a0013c0018t0005g0264 a0018c0042t0002g0277 a0021c0040t0006g0256 a0024c0031t0003g0261 a0026c0030t0008g0306	67	330	0.2030	-216	c.102 others(17): Show c.102+3338_103-3259del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222716	TGTGTGTG others(209): Show TGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCG TGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAG CCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0013 a0013	a0013c0018 a0013c0045 a0013c0018 a0013c0045	a0013c0018t0005 a0013c0045t0005 a0013c0018t0005 a0013c0045t0005	a0013c0018t0005g0264 a0013c0045t0005g0243 a0013c0018t0005g0264 a0013c0045t0005g0243	2	327	0.0061	-216	c.501 others(19): Show c.5019-1935_5019-1720del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LLGL2_chr17_75520697_75580209	75546566	GCGGAGGG others(209): Show GCGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGC GGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGG AGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGACGGAG GGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGGAGGG CAGGTCCAGCAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0033	a0001c0001 a0001c0024 a0001c0029 others(43): Show a0001c0001 a0001c0024 a0001c0029 a0001c0037 a0002c0003 a0002c0004 a0002c0006 a0002c0012 a0002c0013 a0002c0045 a0002c0046 a0003c0002 a0003c0019 a0003c0021 a0004c0005 a0004c0007 a0004c0018 a0004c0050 a0005c0009 a0005c0015 a0006c0008 a0006c0036 a0008c0043 a0009c0011 a0010c0014 a0011c0020 a0012c0027 a0012c0028 a0013c0016 a0014c0017 a0015c0022 a0018c0042 a0019c0047 a0020c0039 a0021c0032 a0022c0038 a0023c0031 a0024c0035 a0025c0025 a0026c0049 a0027c0040 a0028c0056 a0029c0034 a0031c0026 a0032c0030 a0033c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0024t0002 a0001c0029t0001 a0001c0037t0001 a0002c0003t0003 a0002c0003t0005 a0002c0004t0003 a0002c0006t0003 a0002c0006t0005 a0002c0012t0003 a0002c0013t0003 a0002c0045t0003 a0002c0046t0005 a0003c0002t0001 a0003c0002t0002 a0003c0019t0002 a0003c0021t0002 a0004c0005t0004 a0004c0007t0003 a0004c0018t0005 a0004c0050t0006 a0005c0009t0002 a0005c0009t0004 a0005c0009t0007 a0005c0015t0005 a0006c0008t0001 a0006c0036t0001 a0008c0043t0003 a0009c0011t0006 a0010c0014t0003 a0011c0020t0003 a0012c0027t0005 a0012c0028t0003 a0013c0016t0003 a0014c0017t0003 a0015c0022t0003 a0018c0042t0003 a0019c0047t0003 a0020c0039t0004 a0021c0032t0002 a0022c0038t0003 a0023c0031t0001 a0024c0035t0001 a0025c0025t0007 a0026c0049t0003 a0027c0040t0003 a0028c0056t0001 a0029c0034t0001 a0031c0026t0001 a0032c0030t0001 a0033c0033t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0032 others(264): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0302 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0259 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0008g0043 a0001c0001t0009g0120 a0001c0024t0002g0221 a0001c0029t0001g0050 a0001c0037t0001g0153 a0002c0003t0003g0002 a0002c0003t0003g0224 a0002c0003t0003g0230 a0002c0003t0003g0234 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0275 a0002c0003t0003g0282 a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0324 a0002c0003t0005g0005 a0002c0003t0005g0058 a0002c0003t0005g0095 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0005g0100 a0002c0003t0005g0108 a0002c0003t0005g0127 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0144 a0002c0003t0005g0145 a0002c0003t0005g0146 a0002c0003t0005g0147 a0002c0003t0005g0148 a0002c0003t0005g0152 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0004t0003g0016 a0002c0004t0003g0017 a0002c0004t0003g0021 a0002c0004t0003g0070 a0002c0004t0003g0071 a0002c0004t0003g0200 a0002c0004t0003g0283 a0002c0004t0003g0284 a0002c0004t0003g0330 a0002c0004t0003g0332 a0002c0004t0003g0333 a0002c0004t0003g0334 a0002c0004t0003g0336 a0002c0004t0003g0337 a0002c0004t0003g0338 a0002c0004t0003g0339 a0002c0004t0003g0341 a0002c0004t0003g0342 a0002c0004t0003g0343 a0002c0004t0003g0344 a0002c0004t0003g0345 a0002c0004t0003g0346 a0002c0004t0003g0347 a0002c0004t0003g0348 a0002c0004t0003g0350 a0002c0004t0003g0358 a0002c0004t0003g0359 a0002c0004t0003g0360 a0002c0006t0003g0029 a0002c0006t0003g0063 a0002c0006t0003g0312 a0002c0006t0005g0104 a0002c0012t0003g0015 a0002c0012t0003g0310 a0002c0013t0003g0201 a0002c0013t0003g0202 a0002c0013t0003g0331 a0002c0045t0003g0309 a0002c0046t0005g0109 a0003c0002t0001g0087 a0003c0002t0001g0162 a0003c0002t0001g0175 a0003c0002t0002g0052 a0003c0002t0002g0053 a0003c0002t0002g0054 a0003c0002t0002g0206 a0003c0002t0002g0210 a0003c0002t0002g0213 a0003c0002t0002g0262 a0003c0002t0002g0327 a0003c0002t0002g0329 a0003c0002t0002g0340 a0003c0019t0002g0171 a0003c0019t0002g0216 a0003c0021t0002g0328 a0004c0005t0004g0004 a0004c0005t0004g0014 a0004c0005t0004g0061 a0004c0005t0004g0062 a0004c0005t0004g0064 a0004c0005t0004g0197 a0004c0005t0004g0211 a0004c0005t0004g0212 a0004c0005t0004g0215 a0004c0005t0004g0303 a0004c0005t0004g0304 a0004c0005t0004g0305 a0004c0005t0004g0306 a0004c0005t0004g0307 a0004c0007t0003g0025 a0004c0007t0003g0031 a0004c0007t0003g0203 a0004c0007t0003g0209 a0004c0007t0003g0308 a0004c0007t0003g0311 a0004c0007t0003g0326 a0004c0018t0005g0101 a0004c0018t0005g0194 a0004c0050t0006g0066 a0005c0009t0002g0208 a0005c0009t0004g0207 a0005c0009t0004g0320 a0005c0009t0007g0038 a0005c0015t0005g0176 a0005c0015t0005g0177 a0006c0008t0001g0003 a0006c0008t0001g0034 a0006c0008t0001g0036 a0006c0008t0001g0045 a0006c0008t0001g0048 a0006c0036t0001g0003 a0008c0043t0003g0027 a0009c0011t0006g0022 a0009c0011t0006g0023 a0009c0011t0006g0024 a0010c0014t0003g0019 a0010c0014t0003g0335 a0011c0020t0003g0068 a0012c0027t0005g0179 a0012c0028t0003g0191 a0013c0016t0003g0060 a0013c0016t0003g0065 a0014c0017t0003g0020 a0014c0017t0003g0030 a0015c0022t0003g0026 a0015c0022t0003g0028 a0018c0042t0003g0218 a0019c0047t0003g0361 a0020c0039t0004g0362 a0021c0032t0002g0059 a0022c0038t0003g0277 a0023c0031t0001g0181 a0024c0035t0001g0040 a0025c0025t0007g0039 a0026c0049t0003g0069 a0027c0040t0003g0192 a0028c0056t0001g0114 a0029c0034t0001g0119 a0031c0026t0001g0128 a0032c0030t0001g0116 a0033c0033t0001g0189	277	380	0.7289	-216	c.75+ others(15): Show c.75+3155_75+3370del	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LRCH3_chr3_197786254_197893436	197877079	CTCACCGC others(209): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 HG02717.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0049 a0001c0005t0048 a0001c0005t0049	a0001c0005t0048g0040 a0001c0005t0049g0086 a0001c0005t0048g0040 a0001c0005t0049g0086	2	264	0.0076	-216	c.220 others(19): Show c.2208+1519_2208+1734del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877295	TTCACCGC others(209): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0067 a0002c0003t0022g0067	1	235	0.0043	-216	c.220 others(19): Show c.2208+1571_2208+1786del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LYG2_chr2_99237246_99260666	99251898	CCATTCTC others(209): Show CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGCC ACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGTGTATCACTG TGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCCGCCTGCCTCG GCCTCCCAAAGTGCAGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCAA AAATTTTTACAGGTGAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(179): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0003c0002 others(1): Show a0001c0001 a0001c0007 a0003c0002 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0003c0002t0001 a0005c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0172 a0001c0001t0003g0174 a0001c0007t0001g0142 a0003c0002t0001g0169 a0003c0002t0001g0170 a0005c0004t0001g0148	182	424	0.4292	-216	c.43+ others(15): Show c.43+2104_43+2319del	LYG2	ENSG00000185674.10	transcript	ENST00000333017.7	protein_coding	3/6			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1937916	AGCAGGGA others(209): Show AGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCA CACACAAACATCAGCCGCCCACAGCAGGGAGGTGCAGGGTCACTGCGCAC CCGAGACCCCGACCTCACGCCACACACAAACATCAGCCGCCCACGGCAGG GAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCACACACA AACATCAGCCGCCCACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0005t0002 a0002c0009t0001 a0002c0012t0001	a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0105 others(118): Show a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0002g0088 a0001c0001t0002g0225 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0029 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0051 a0001c0003t0001g0062 a0001c0003t0001g0095 a0001c0015t0001g0238 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0076 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0264 a0002c0005t0001g0087 a0002c0005t0001g0090 a0002c0005t0001g0104 a0002c0005t0001g0112 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0197 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0005t0001g0240 a0002c0005t0002g0121 a0002c0009t0001g0096 a0002c0012t0001g0044	121	262	0.4618	-216	c.159 others(19): Show c.1597-1235_1597-1020del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452165	GAAGAGAA others(209): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAG AGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0151 a0002c0003t0018g0151	1	160	0.0063	-216	c.995 others(17): Show c.995+4532_995+4747del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MCF2L_chr13_112964214_113104742	113024904	GGGCAGAG others(209): Show GGGCAGAGTCCCTGTGAGATTTCCCCATCATGCGGTCCCCGTGACTGTGG GTCAGGGCAGAGTCTCTGTGAGGTTTCATCATGGTGGGGTCCCCGTGACT GTGGGTTGGGGCAGAATCTCTGTGAGGTTTCATCATGGTGGGGTCCCCGT GACTGTGGGTCGGGGCAGAGTCCCTGTGAGATTTCACCAGGGTGGGGTCC CTGCAACTATGGGATGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03471.hp1 HG01496.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0001 a0001c0001t0024 a0001c0004t0001	a0001c0001t0024g0018 a0001c0004t0001g0103 a0001c0001t0024g0018 a0001c0004t0001g0103	2	114	0.0175	-216	c.278 others(15): Show c.278+210_278+425del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113024986	GGTGGGGT others(209): Show GGTGGGGTCCCCGTGACTGTGGGTTGGGGCAGAATCTCTGTGAGGTTTCA TCATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGAT TTCACCAGGGTGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTG AGATTTCCCCATCATGCGGTCCCCGTGACTGTGGGTCAGGGCAGAGTCCC TGTGAGGTTTCCCCATT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG06807.hp2 HG01109.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0027g0034 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0027g0034	3	103	0.0291	-216	c.278 others(15): Show c.278+252_278+467del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113025634	TGTGGGGT others(209): Show TGTGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAGATTTCC CTGTCATGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGAT TTCACCAGGGTGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTG AGATTTCCCTGTCATGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCTC TGTGAGGTTTCATCATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG06807.hp2 HG01109.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0027g0034 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0027g0034	3	114	0.0263	-216	c.278 others(16): Show c.278+887_278+1102del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MXRA5_chrX_3303565_3351652	3341378	TTATTATA others(209): Show TTATTATATATAATATATATAATATATATTATTATTATATATAATATATG TAATATATATTATTATTATATATAATATATGTAATATATATTATTATTAT ATATAATATATGTAATATATATTATTATTATATATAATATATATAATATA TATTATTATTATATATAATATATATAATATATATTATTATTATATATAAT ATATATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0177 a0003c0003t0001g0177	1	282	0.0035	-216	c.188 others(17): Show c.188+2052_188+2267del	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MYZAP_chr15_57586904_57690364	57687920	ATATGTGT others(209): Show ATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACA TATATAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATAC ACATATATAAATGTGTGTACAATATACACATATATAATATGTGTGTACAA TATACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAA TATACACATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18945.hp1 NA18747.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0230 a0001c0001t0001g0271	2	318	0.0063	-216	c.34 others(11): Show c.3423_*3638del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2557		chr15	TogoVar
NEU4_chr2_241804193_241822413	241805786	TCCCCCCT others(209): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18962.hp2 NA18998.hp2 others(1): Show HG01358.hp1 NA18962.hp2 NA18998.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0004t0001 a0002c0003t0002 a0001c0001t0003 a0001c0004t0001 a0002c0003t0002	a0001c0001t0003g0011 a0001c0004t0001g0060 a0002c0003t0002g0148 others(1): Show a0001c0001t0003g0011 a0001c0004t0001g0060 a0002c0003t0002g0148 a0002c0003t0002g0163	4	309	0.0129	-216	c.-34 others(11): Show c.-3491_-3276del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3406		chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163778	GCGGTAAT others(209): Show GCGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGCGGTAATGAGAGGTCATACTGGGTGGGGTGGCGGTAA TGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGG GGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTC ATACCGGGTGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG03704.hp1 others(1): Show HG00099.hp1 HG00621.hp2 HG03704.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0010 a0001c0018 a0002c0010	a0001c0018t0001 a0002c0010t0002 a0002c0010t0020 a0001c0018t0001 a0002c0010t0002 a0002c0010t0020	a0001c0018t0001g0163 a0002c0010t0002g0052 a0002c0010t0002g0133 others(1): Show a0001c0018t0001g0163 a0002c0010t0002g0052 a0002c0010t0002g0133 a0002c0010t0020g0134	4	201	0.0199	-216	c.346 others(19): Show c.3466+2927_3466+3142del	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NTM_chr11_131365615_132341822	131789418	AAAAAGAA others(209): Show AAAAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG03098.hp1 HG02055.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0010g0019 a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0010g0019	3	86	0.0349	-216	c.83- others(19): Show c.83-122134_83-121919del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN5_chr19_48656407_48678017	48669360	CCACCATC others(209): Show CCACCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATC ACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATGAC CACCATCATCACCACCATCACCACCATCACCATCACCACCACCACGACCA TCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19060.hp1 NA18966.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	368	0.0054	-216	c.631 others(15): Show c.631+780_631+995del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
OXSR1_chr3_38160537_38260484	38161858	GTCATATA others(209): Show GTCATATATTATGTATATTTCATATACATATGTCATATATTATGTATATT TCATATACATATGTCATATATTATGTATATTTCATATACATATTTCATAT ATTATGTATATTTCATATACATATTTCATATATTATGTATATTTCATATA CATATTTCATATATTATGTATATTTCATATACATATTTCATATATTATGT AATTTCATATACATATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	239	0.0042	-216	c.-40 others(11): Show c.-4018_-3803del	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3678		chr3	TogoVar
PADI1_chr1_17200128_17251007	17241451	GAGGGTTG others(209): Show GAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTG AAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCAGAATCGG GATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGT TGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTC GGAATCGGGATGGAATC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02886.hp1 HG02976.hp2 others(2): Show HG01167.hp2 HG02886.hp1 HG02976.hp2 NA18944.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0014 others(1): Show a0001c0002 a0001c0004 a0001c0014 a0004c0011	a0001c0002t0001 a0001c0004t0001 a0001c0014t0009 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0014t0009 a0004c0011t0009	a0001c0002t0001g0252 a0001c0004t0001g0349 a0001c0014t0009g0373 others(2): Show a0001c0002t0001g0252 a0001c0004t0001g0349 a0001c0014t0009g0373 a0001c0014t0009g0383 a0004c0011t0009g0315	5	34	0.1471	-216	c.175 others(17): Show c.1758+783_1758+998del	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCMTD2_chr20_64250748_64281226	64270719	AAATGGTA others(209): Show AAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTGATA CGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGT GATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCG TTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTG TTCGTTGTGATACGTAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18954.hp2 NA18971.hp1 others(1): Show HG02055.hp2 NA18954.hp2 NA18971.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0013 a0001c0001t0003 a0001c0002t0002 a0001c0002t0013	a0001c0001t0003g0006 a0001c0002t0002g0004 a0001c0002t0002g0089 others(1): Show a0001c0001t0003g0006 a0001c0002t0002g0004 a0001c0002t0002g0089 a0001c0002t0013g0058	4	230	0.0174	-216	c.707 others(17): Show c.707-2419_707-2204del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64270856	CGTGAGGT others(209): Show CGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAG GGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAG GAAGGGCACGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTC TGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTC CTTCTGAGGAAGGGCAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03471.hp1 HG03486.hp1 others(3): Show HG00621.hp1 HG03471.hp1 HG03486.hp1 HG04184.hp2 NA18963.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0117 a0001c0001t0001g0125	6	164	0.0366	-216	c.707 others(17): Show c.707-2257_707-2042del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271253	TACGTACA others(209): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp1 HG01361.hp1 others(21): Show HG00735.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG02015.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG03130.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0003g0130 a0001c0001t0006g0110 a0001c0001t0019g0075 a0001c0003t0001g0003	24	155	0.1548	-216	c.707 others(17): Show c.707-1916_707-1701del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDS5B_chr13_32581452_32783019	32599513	CTTGGGCT others(209): Show CTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGGGATTACCACACCTGG CCTATTTGATTTGTAAGTTGATACTTTTTCCCAAAATTTGGTACATTTTA GACCTTACTTAAAAAATACCGGCCGGGCGCGGTGACTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGATGGATCATGAGGTCAGGAGATCTG GACCATCCTGGCTAACA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0297 a0001c0001t0020g0297	1	332	0.0030	-216	c.-20 others(19): Show c.-20+12922_-20+13137del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PFN3_chr5_177395109_177405661	177396430	ATCCGCTC others(209): Show ATCCGCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCCCCCGC GGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCC CCGCGGAGGTCCGCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGT GCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGATCCGCTCTCC CAGTGCCCCCGCGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03491.hp2 HG03017.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	407	0.0049	-216	c.35 others(11): Show c.3517_*3732del	PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding		3678		chr5	TogoVar
PKD1_chr16_2083708_2140898	2128090	GAGGGAGG others(209): Show GAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGG CTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGA GGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGT GGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAG AGGTGGGAGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(12): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2	a0005 a0009 a0040 others(4): Show a0005 a0009 a0040 a0042 a0050 a0055 a0073	a0005c0005 a0005c0110 a0009c0016 others(6): Show a0005c0005 a0005c0110 a0009c0016 a0009c0048 a0040c0109 a0042c0121 a0050c0123 a0055c0049 a0073c0111	a0005c0005t0004 a0005c0110t0004 a0009c0016t0007 others(6): Show a0005c0005t0004 a0005c0110t0004 a0009c0016t0007 a0009c0048t0007 a0040c0109t0004 a0042c0121t0004 a0050c0123t0028 a0055c0049t0027 a0073c0111t0009	a0005c0005t0004g0007 a0005c0005t0004g0008 a0005c0005t0004g0009 others(12): Show a0005c0005t0004g0007 a0005c0005t0004g0008 a0005c0005t0004g0009 a0005c0005t0004g0010 a0005c0005t0004g0011 a0005c0005t0004g0013 a0005c0110t0004g0014 a0009c0016t0007g0002 a0009c0016t0007g0003 a0009c0048t0007g0004 a0040c0109t0004g0012 a0042c0121t0004g0015 a0050c0123t0028g0216 a0055c0049t0027g0215 a0073c0111t0009g0016	15	200	0.0750	-216	c.215 others(17): Show c.215+7169_215+7384del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PKP3_chr11_389209_409908	400807	CCCCGCCC others(209): Show CCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCC GACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCC CGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCAC CCCGGACCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	211	0.0047	-216	c.173 others(17): Show c.1737+117_1737+332del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401058	GCCCCGCT others(209): Show GCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGC TCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACAC CCGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0040 a0001c0005t0001g0040	1	213	0.0047	-216	c.173 others(17): Show c.1737+354_1737+569del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401131	CCCCGGCC others(209): Show CCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0182 a0003c0014t0001g0182	1	206	0.0049	-216	c.173 others(17): Show c.1737+445_1737+660del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806000	CCACCATC others(209): Show CCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACC ACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCATCACCACCACCA CCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0147 a0001c0006t0004g0147	1	404	0.0025	-216	c.265 others(19): Show c.2653-1602_2653-1387del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3165288	TGGACTCA others(209): Show TGGACTCACCTGGGCTCAGGGACAGGGTTGCACTTGGCCTCAGGGGCATG GACTCACCTGGGCTCAGGGACGGTGACTCACCTGGGCTCAGAGACAGGGA CTCACCAGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACT CACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACTCA CCTGGGCTCAGGGACAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0067 a0001c0001t0082g0067	1	203	0.0049	-216	c.38- others(17): Show c.38-20812_38-20597del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165668	GACAGTGA others(209): Show GACAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCTGGGCTCAGGGA CAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCCCAGGGACA GGGACTCACCAGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGCACAGG GACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGA CTCACCAGGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(20): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19085.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0001c0016 a0001c0020 a0001c0025 a0004c0010 a0009c0028 a0010c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0043 a0001c0001t0046 a0001c0001t0069 a0001c0002t0002 a0001c0002t0005 a0001c0002t0018 a0001c0002t0064 a0001c0002t0079 a0001c0008t0001 a0001c0013t0001 a0001c0016t0020 a0001c0020t0005 a0001c0025t0044 a0004c0010t0026 a0009c0028t0015 a0010c0023t0025	a0001c0001t0001g0179 a0001c0001t0002g0012 a0001c0001t0011g0047 others(20): Show a0001c0001t0001g0179 a0001c0001t0002g0012 a0001c0001t0011g0047 a0001c0001t0014g0069 a0001c0001t0019g0101 a0001c0001t0020g0105 a0001c0001t0023g0072 a0001c0001t0043g0060 a0001c0001t0046g0042 a0001c0001t0069g0115 a0001c0002t0002g0169 a0001c0002t0005g0141 a0001c0002t0018g0085 a0001c0002t0064g0182 a0001c0002t0079g0188 a0001c0008t0001g0005 a0001c0013t0001g0104 a0001c0016t0020g0108 a0001c0020t0005g0196 a0001c0025t0044g0109 a0004c0010t0026g0122 a0009c0028t0015g0209 a0010c0023t0025g0007	23	208	0.1106	-216	c.38- others(17): Show c.38-20452_38-20237del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151820431	GGAACACC others(209): Show GGAACACCGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCT ACTCGGAACACCGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACA CTCTACTCGGAACACCGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGG CACACTCTACTCGGAACACCGCTCCGTGGCCTGGCCCCTCTGGCTACTGC AGGGCACACTCTACTCT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	250	0.0040	-216	c.115 others(19): Show c.115-34106_115-33891del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRR7_chr5_177441814_177461286	177451316	CAGCCTGC others(209): Show CAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGAGCAC CCTGTAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGA GCACCCTGTAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCA GGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTGTGGAACCCACCCTCA GGCAGGGAGCACCCTGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	328	0.0030	-216	c.-32 others(19): Show c.-324-2458_-324-2243del	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PXDNL_chr8_51314577_51814445	51534514	AGTCCGGG others(209): Show AGTCCGGGAGGAGGTGGGGGGATCAGCCCCCACCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAGCCCGCCCGGCCAGCCGCCCCGTCCAGG AGGGAGGTGGGGGGATCAGCCCCCACTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCT GCCCGGCCAGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0058 a0011c0013t0001g0058	1	86	0.0116	-216	c.380 others(19): Show c.380+22110_380+22325del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
RASA3_chr13_113972783_114137623	114083861	GTCCTCGC others(209): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	62	0.0161	-216	c.56- others(17): Show c.56-10240_56-10025del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114084887	CTCCTCGC others(209): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	55	0.0182	-216	c.56- others(17): Show c.56-11266_56-11051del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086129	GTCCTCGC others(209): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18971.hp1 HG01993.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0030 a0001c0003t0003g0020 a0001c0003t0003g0030	2	44	0.0455	-216	c.56- others(17): Show c.56-12508_56-12293del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086578	CCGGGGAA others(209): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC TCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02300.hp2 HG02257.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0004 a0001c0001t0001 a0002c0004t0004	a0001c0001t0001g0034 a0002c0004t0004g0001 a0001c0001t0001g0034 a0002c0004t0004g0001	2	66	0.0303	-216	c.56- others(17): Show c.56-12957_56-12742del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086777	CTCCTCGC others(209): Show CTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18954.hp2 NA18971.hp1 HG01993.hp1 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	3	51	0.0588	-216	c.56- others(17): Show c.56-13156_56-12941del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086794	ACGGGGAA others(209): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0028 a0001c0001t0005g0023 a0001c0001t0001g0028 a0001c0001t0005g0023	2	49	0.0408	-216	c.56- others(17): Show c.56-13173_56-12958del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086885	GTCCTCGC others(209): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCC	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	45	0.0222	-216	c.56- others(17): Show c.56-13263_56-13048del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120312	ATCAGGGC others(209): Show ATCAGGGCCCTCCCTCCTCTCTCCAGCCAGCCAGGCGTCGATCAGGGCCC CCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAG CCAGGCGTCGATCAGGGCCCTCCCTCCTCTCTCCAGCCAGGCGTCGATCA GGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCTCT CTCCAGCCAGACGTCGG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	66	0.0152	-216	c.55+ others(17): Show c.55+11907_55+12122del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7008918	CTCCCTTC others(209): Show CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00741.hp1 others(12): Show HG00280.hp2 HG00609.hp2 HG00741.hp1 HG01175.hp1 HG02738.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA18994.hp1 NA18994.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0002t0028 a0002c0005t0003 a0003c0003t0034	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0067 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0002g0044 a0001c0001t0003g0041 a0001c0001t0010g0037 a0001c0001t0011g0035 a0001c0001t0014g0046 a0001c0001t0017g0014 a0001c0001t0019g0055 a0001c0001t0021g0062 a0001c0002t0028g0031 a0002c0005t0003g0043 a0003c0003t0034g0061	15	68	0.2206	-216	c.-15 others(19): Show c.-15-43133_-15-42918del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130545643	GGTAACAT others(209): Show GGTAACATGACCGAGGAACGAGCCCAGTTCAGAGCCGCCGTCGAGTGTCA CGTCTGGGGAGGAGAGGGGAGCGCCGTGCTAAGGGGCTTACGCAGAATCT TCTTCAAAGCTGTCAAATCTCCATCTCCGCCAGCCATCACTGCTGCCTCT ACACCAGAAGCACGTGAGAACGTGTGGGTCCCATTTTTCATACAAATGTT TAAAATATATTCTGTGC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0164 a0001c0007t0001g0164	1	178	0.0056	-216	c.-21 others(21): Show c.-216-27942_-216-27727del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646053	CCCTCACC others(209): Show CCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCC CTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT CCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACC ACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0172 a0002c0010t0001g0172	1	177	0.0056	-216	c.-35 others(21): Show c.-351-17813_-351-17598del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646130	TCCACCTC others(209): Show TCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACC TCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTG CCTCACCACCTCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0150 a0001c0007t0001g0149 a0001c0003t0001g0150 a0001c0007t0001g0149	2	109	0.0183	-216	c.-35 others(21): Show c.-351-17890_-351-17675del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646190	ACCACTTC others(209): Show ACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCA CCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACC TCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTC CCTCACCACCTGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG03486.hp2 others(2): Show HG01891.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA19030.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0003 a0001c0005 a0002c0010 others(2): Show a0001c0003 a0001c0005 a0002c0010 a0004c0030 a0016c0051	a0001c0003t0001 a0001c0005t0001 a0002c0010t0001 others(2): Show a0001c0003t0001 a0001c0005t0001 a0002c0010t0001 a0004c0030t0002 a0016c0051t0003	a0001c0003t0001g0154 a0001c0005t0001g0129 a0002c0010t0001g0131 others(2): Show a0001c0003t0001g0154 a0001c0005t0001g0129 a0002c0010t0001g0131 a0004c0030t0002g0142 a0016c0051t0003g0093	5	171	0.0292	-216	c.-35 others(21): Show c.-351-17950_-351-17735del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646226	ACCACCTG others(209): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCAC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCA CCTGCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACC TCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTC CCTCTCCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02622.hp2 HG01074.hp1 HG02622.hp2	a0005 a0008 a0005 a0008	a0005c0015 a0008c0013 a0005c0015 a0008c0013	a0005c0015t0001 a0008c0013t0003 a0005c0015t0001 a0008c0013t0003	a0005c0015t0001g0139 a0008c0013t0003g0175 a0005c0015t0001g0139 a0008c0013t0003g0175	2	149	0.0134	-216	c.-35 others(21): Show c.-351-17986_-351-17771del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar

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