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
FGF21_chr19_48750524_48763330	48761845	AGGGGGAC others(133): Show AGGGGGACAGAGACCCAGAGAGAGAGGGGGATAGAGACCCAGAGAGAGAG GGGGACAGAGACCCAGAGAGAGGGGGGGCAGAGACCCAGGGAAAAAGGAA GACAGAGACTCAGAGAGAGGGACAGAGACCCAGAGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01928.hp1 HG01981.hp1 others(16): Show HG00621.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA19003.hp1 NA19007.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0024	19	456	0.0417	-140	c.36 others(11): Show c.3626_*3765del	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		3516		chr19	TogoVar
FLT4_chr5_180596506_180654600	180635077	GGAGGGTG others(133): Show GGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGG TGGATGGATGCATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAG TATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0354 a0002c0002t0001g0354	1	388	0.0026	-140	c.59- others(15): Show c.59-3439_59-3300del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180639239	ACGGATGG others(133): Show ACGGATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGGTGGAG GAGTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATGGACAG ACAGATGAATGGATGGATGGACAGGTAGATGAGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(59): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18993.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0009 a0010 a0024	a0001c0001 a0001c0032 a0001c0047 others(8): Show a0001c0001 a0001c0032 a0001c0047 a0002c0002 a0002c0003 a0002c0011 a0005c0015 a0006c0014 a0009c0024 a0010c0021 a0024c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0032t0026 a0001c0047t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0013 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0011t0014 a0005c0015t0011 a0006c0014t0009 a0009c0024t0001 a0010c0021t0001 a0024c0046t0009	a0001c0001t0001g0075 a0001c0001t0001g0128 a0001c0001t0001g0129 others(57): Show a0001c0001t0001g0075 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0309 a0001c0001t0001g0356 a0001c0001t0001g0365 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0338 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0012g0357 a0001c0001t0012g0358 a0001c0001t0015g0332 a0001c0001t0020g0361 a0001c0032t0026g0333 a0001c0047t0001g0173 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0086 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0211 a0002c0002t0001g0331 a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0005g0340 a0002c0002t0013g0165 a0002c0003t0001g0375 a0002c0003t0002g0325 a0002c0003t0002g0336 a0002c0003t0006g0334 a0002c0003t0006g0335 a0002c0003t0007g0314 a0002c0003t0007g0315 a0002c0011t0014g0166 a0005c0015t0011g0171 a0005c0015t0011g0172 a0006c0014t0009g0301 a0006c0014t0009g0302 a0009c0024t0001g0004 a0010c0021t0001g0326 a0024c0046t0009g0327	62	388	0.1598	-140	c.59- others(15): Show c.59-7601_59-7462del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82580146	TAGCCCTC others(133): Show TAGCCCTCCTCTCCATGTCGCCGGTGAAGTAGCTCCATCCACAGGGCCCA GATCCCTCCCACACATGGCCCAGCCCACCTCTCCATGTCACCATGAAGTA GCTCCCATCCACAGGGCCCAGATCCTTCCCACACATGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(60): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp2 NA18954.hp2 NA18971.hp2 NA18993.hp2 NA18995.hp2 NA19004.hp1 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19081.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0013 a0018	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0017 a0001c0028 a0004c0005 a0006c0008 a0013c0013 a0018c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0036 a0001c0001t0038 a0001c0001t0052 a0001c0003t0001 a0001c0003t0008 a0001c0003t0013 a0001c0007t0001 a0001c0017t0043 a0001c0028t0002 a0004c0005t0001 a0004c0005t0005 a0006c0008t0003 a0013c0013t0018 a0018c0019t0023	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0033 others(60): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0004g0011 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0067 a0001c0001t0004g0091 a0001c0001t0008g0028 a0001c0001t0010g0015 a0001c0001t0010g0021 a0001c0001t0013g0034 a0001c0001t0016g0066 a0001c0001t0017g0089 a0001c0001t0022g0026 a0001c0001t0022g0031 a0001c0001t0022g0068 a0001c0001t0024g0092 a0001c0001t0026g0080 a0001c0001t0027g0030 a0001c0001t0029g0008 a0001c0001t0036g0291 a0001c0001t0038g0095 a0001c0001t0052g0018 a0001c0003t0001g0032 a0001c0003t0008g0029 a0001c0003t0008g0059 a0001c0003t0013g0024 a0001c0007t0001g0085 a0001c0017t0043g0016 a0001c0028t0002g0009 a0004c0005t0001g0014 a0004c0005t0005g0158 a0006c0008t0003g0003 a0013c0013t0018g0292 a0018c0019t0023g0019	63	308	0.2046	-140	c.910 others(17): Show c.910-2576_910-2437del	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRG3_chr15_26966181_27546984	27305620	TATATATA others(133): Show TATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAACATATATAATATAAACCTATATGTTTATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01070.hp1 others(26): Show HG00323.hp1 HG00323.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0002c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0001c0001t0031 a0001c0002t0001 a0001c0002t0026 a0001c0002t0033 a0001c0003t0032 a0001c0004t0002 a0001c0004t0005 a0001c0005t0002 a0001c0005t0005 a0001c0006t0003 a0001c0007t0004 a0001c0007t0036 a0001c0008t0008 a0001c0009t0010 a0001c0013t0023 a0002c0015t0020	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0038 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0004g0007 a0001c0001t0025g0092 a0001c0001t0031g0028 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0026g0070 a0001c0002t0033g0030 a0001c0003t0032g0040 a0001c0004t0002g0015 a0001c0004t0005g0050 a0001c0005t0002g0055 a0001c0005t0005g0037 a0001c0006t0003g0008 a0001c0007t0004g0056 a0001c0007t0036g0016 a0001c0008t0008g0001 a0001c0008t0008g0002 a0001c0009t0010g0051 a0001c0013t0023g0006 a0002c0015t0020g0031	29	92	0.3152	-140	c.271 others(19): Show c.271-20868_271-20729del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27305970	CATATATA others(133): Show CATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAACATATAATATAAACCTATATGTTTATATATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG00738.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0027	a0001c0001t0001g0091 a0001c0002t0027g0080 a0001c0001t0001g0091 a0001c0002t0027g0080	2	92	0.0217	-140	c.271 others(19): Show c.271-20833_271-20694del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806084	TCCCCCCT others(133): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	314	0.0032	-140	c.19 others(11): Show c.1919_*2058del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1798		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806161	CCCCTCAG others(133): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0249	1	314	0.0032	-140	c.19 others(11): Show c.1996_*2135del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1875		chr2	TogoVar
GLB1L2_chr11_134326988_134381324	134375740	GACATGTG others(133): Show GACATGTGAGTCCTGGCAGAAGCCATGGCCCATGTCTGCACATCCAGGGA GGAGGACAGAAGGCCCAGCTCACATGTGAGTCCTGGCAGAAGCCATGGCC CATGTCTGCACATCCAGGGAGGAGGACAGAAGGCCCAGCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG01081.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0013	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0024 a0001c0026 a0001c0027 a0001c0033 a0002c0012 a0002c0038 a0002c0039 a0004c0019 a0011c0021 a0013c0029	a0001c0001t0011 a0001c0002t0002 a0001c0002t0016 others(18): Show a0001c0001t0011 a0001c0002t0002 a0001c0002t0016 a0001c0004t0002 a0001c0004t0011 a0001c0005t0002 a0001c0005t0017 a0001c0007t0002 a0001c0010t0002 a0001c0011t0007 a0001c0013t0002 a0001c0024t0002 a0001c0026t0002 a0001c0027t0002 a0001c0033t0002 a0002c0012t0007 a0002c0038t0007 a0002c0039t0007 a0004c0019t0007 a0011c0021t0002 a0013c0029t0002	a0001c0001t0011g0011 a0001c0001t0011g0091 a0001c0001t0011g0146 others(110): Show a0001c0001t0011g0011 a0001c0001t0011g0091 a0001c0001t0011g0146 a0001c0001t0011g0304 a0001c0001t0011g0305 a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0114 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0128 a0001c0002t0002g0143 a0001c0002t0002g0151 a0001c0002t0002g0176 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0251 a0001c0002t0002g0263 a0001c0002t0002g0269 a0001c0002t0002g0276 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0316 a0001c0002t0002g0374 a0001c0002t0016g0291 a0001c0004t0002g0168 a0001c0004t0011g0218 a0001c0005t0002g0007 a0001c0005t0002g0043 a0001c0005t0002g0053 a0001c0005t0002g0055 a0001c0005t0002g0100 a0001c0005t0002g0117 a0001c0005t0002g0132 a0001c0005t0002g0144 a0001c0005t0002g0192 a0001c0005t0002g0239 a0001c0005t0002g0240 a0001c0005t0002g0259 a0001c0005t0002g0277 a0001c0005t0002g0306 a0001c0005t0002g0309 a0001c0005t0002g0314 a0001c0005t0002g0317 a0001c0005t0002g0318 a0001c0005t0002g0319 a0001c0005t0002g0320 a0001c0005t0002g0377 a0001c0005t0017g0139 a0001c0007t0002g0323 a0001c0007t0002g0324 a0001c0007t0002g0327 a0001c0007t0002g0333 a0001c0007t0002g0363 a0001c0010t0002g0189 a0001c0010t0002g0190 a0001c0010t0002g0237 a0001c0011t0007g0182 a0001c0011t0007g0236 a0001c0011t0007g0378 a0001c0013t0002g0347 a0001c0013t0002g0373 a0001c0024t0002g0147 a0001c0026t0002g0272 a0001c0027t0002g0258 a0001c0033t0002g0283 a0002c0012t0007g0028 a0002c0012t0007g0197 a0002c0012t0007g0379 a0002c0038t0007g0343 a0002c0039t0007g0344 a0004c0019t0007g0375 a0004c0019t0007g0376 a0011c0021t0002g0267 a0013c0029t0002g0217	118	414	0.2850	-140	c.96 others(10): Show c.964_*1103del	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	19/19	964	INFO_REALIGN_3_PRIME	chr11	TogoVar
GNG7_chr19_2506219_2707694	2584906	AGGAAGGA others(133): Show AGGAAGGAAAGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAG GAAAGAAGGAAGGAGGGAGGGAGGGATGGAGGGAGGGAGGGAAGGAAGGA AGGAAAGAAGGAAGGAGGGAGGGAGGGACGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03471.hp1 HG02559.hp2 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0088 a0001c0001t0012 a0001c0001t0017 a0001c0001t0088	a0001c0001t0012g0133 a0001c0001t0017g0042 a0001c0001t0088g0131 a0001c0001t0012g0133 a0001c0001t0017g0042 a0001c0001t0088g0131	3	206	0.0146	-140	c.-77 others(19): Show c.-77-29858_-77-29719del	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GP6_chr19_55008705_55043264	55033254	CGTGTTAG others(133): Show CGTGTTAGACACGGTGGACTCGTTCGTGTTAGACACGGTGGACTCGTTCG TGTTGTGTTAGACACGGTGGACTCGTTCGTGTTGTGTTAGACACGGTGGG CTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG03098.hp2 HG02145.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0385 a0001c0001t0001g0425 a0001c0001t0001g0357 a0001c0001t0001g0385 a0001c0001t0001g0425	3	441	0.0068	-140	c.35- others(13): Show c.35-856_35-717del	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC1_chr2_240430663_240473076	240440534	ACTCCTCC others(133): Show ACTCCTCCTGGCCTCCCTGCCTCCGGTCCTGCCCAGCTCCTCCTGGCCTC CCTGCCTCCGGTCCTGCCCAGCTCCTCCTGGCCTCCCTGCCTCCGGTCCT GCCCAGCTCCTCCTGGCCTCCCTGCCTCCGGTCCTGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp2 others(29): Show HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp1 HG06807.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0014 a0002c0001 a0002c0007 a0004c0010 a0014c0018	a0001c0002t0002 a0001c0002t0006 a0001c0003t0014 others(11): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0014 a0001c0003t0016 a0001c0004t0004 a0001c0004t0012 a0001c0004t0018 a0001c0004t0035 a0001c0005t0005 a0001c0014t0005 a0002c0001t0001 a0002c0007t0001 a0004c0010t0003 a0014c0018t0004	a0001c0002t0002g0034 a0001c0002t0002g0265 a0001c0002t0006g0297 others(23): Show a0001c0002t0002g0034 a0001c0002t0002g0265 a0001c0002t0006g0297 a0001c0003t0014g0269 a0001c0003t0016g0052 a0001c0004t0004g0033 a0001c0004t0004g0292 a0001c0004t0004g0294 a0001c0004t0004g0299 a0001c0004t0012g0267 a0001c0004t0012g0290 a0001c0004t0012g0312 a0001c0004t0018g0291 a0001c0004t0035g0300 a0001c0005t0005g0053 a0001c0005t0005g0295 a0001c0005t0005g0309 a0001c0014t0005g0307 a0001c0014t0005g0308 a0002c0001t0001g0298 a0002c0007t0001g0003 a0002c0007t0001g0268 a0004c0010t0003g0051 a0004c0010t0003g0222 a0004c0010t0003g0270 a0014c0018t0004g0293	32	398	0.0804	-140	c.166 others(17): Show c.166+4583_166+4722del	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM7_chr3_6856115_7746533	7099688	TATGTATA others(133): Show TATGTATATGTACACGCATTATACATGTGCACATACATGTATATGTACAC GCATTATACATGTGCACATACATGTATATGTACACGCATTATACATGTGC ACATACATGTATATGTACACGCATTATACATGTGCACATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02922.hp2 others(3): Show HG02280.hp2 HG02622.hp1 HG02922.hp2 HG03195.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 a0001c0002 a0001c0003 a0001c0013	a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 a0001c0013t0001	a0001c0002t0001g0031 a0001c0002t0003g0017 a0001c0003t0002g0056 others(3): Show a0001c0002t0001g0031 a0001c0002t0003g0017 a0001c0003t0002g0056 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0013t0001g0048	6	80	0.0750	-140	c.520 others(19): Show c.520-46729_520-46590del	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRP_chr18_59215158_59235771	59234462	AATATAAC others(133): Show AATATAACATATTATACATACCATGGTATATATATAATATAACATATTAT ACATACCATGGTATATATATAATATAACATATTATACATACCATGGTATA TATATTATATAACATATTATATATACCATGGTATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	408	0.0025	-140	c.39 others(11): Show c.3995_*4134del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3692		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113330115	GGGTGTGT others(133): Show GGGTGTGTGCATGGAAACCCAGGAGTGTGCATGGAAACTCAGGTGCGTGC ATGGGAGCCCAGGTGCGTGGATGGAAACCCAGATGTGTGCATGGGAGCCC AGGTGCGTGGATGGAAACCCGGGTGTGTGCATGGAAACCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	288	0.0035	-140	c.563 others(17): Show c.563-4164_563-4025del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GTF2H4_chr6_30903207_30919106	30918653	AACCCTGG others(133): Show AACCCTGGGTTCCTATAAACACTGCTCCTACTTTTTTCTAGTCACTCCTG GGGGCCTCTTCCACCTTGACTACTCCCTGCCCCTTCCCCTTTCCAGTTCT ACTGCCTTTAGCTATGTTGGCAGTGAGAGGTGAGGATGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01069.hp2 others(13): Show HG00099.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01433.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03834.hp1 NA18948.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0003t0003g0012 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0003t0003g0012 a0001c0003t0003g0017	16	411	0.0389	-140	c.46 others(11): Show c.4671_*4810del	GTF2H4	ENSG00000213780.11	transcript	ENST00000259895.9	protein_coding		4548		chr6	TogoVar
GTPBP6_chrX_299759_323796	321471	AAAAAAAA others(133): Show AAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	155	0.0065	-140	c.-28 others(11): Show c.-2824_-2685del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2676		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106712515	CTCAGATT others(133): Show CTCAGATTTTCTTTATGTCTAGTAATTTTGGATTGGATGCCAGATATCAT AAATTTGACTTCTTAAGTGCTGGATATTTTTATAATCTCATAAATATTAT TGAGCTTTGTTCTGGGATGCAGTTTAATGACTTGGAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00673.hp2 others(27): Show HG00438.hp1 HG00597.hp2 HG00673.hp2 HG01243.hp1 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02965.hp1 HG03041.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp1 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18981.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(16): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0057 a0001c0001t0060 a0001c0001t0071 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0003t0003 a0001c0003t0017 a0001c0003t0026	a0001c0001t0006g0036 a0001c0001t0007g0026 a0001c0001t0007g0055 others(27): Show a0001c0001t0006g0036 a0001c0001t0007g0026 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0160 a0001c0001t0007g0164 a0001c0001t0008g0022 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0054 a0001c0001t0008g0076 a0001c0001t0008g0143 a0001c0001t0017g0072 a0001c0001t0026g0064 a0001c0001t0028g0069 a0001c0001t0043g0041 a0001c0001t0048g0003 a0001c0001t0049g0147 a0001c0001t0057g0038 a0001c0001t0060g0057 a0001c0001t0071g0077 a0001c0002t0001g0204 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0007g0191 a0001c0002t0008g0194 a0001c0002t0017g0224 a0001c0003t0003g0232 a0001c0003t0017g0231 a0001c0003t0026g0230	30	256	0.1172	-140	c.183 others(19): Show c.1837-3989_1837-3850del	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(133): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19063.hp1 HG00642.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0289 a0001c0001t0010g0097 a0001c0001t0001g0289 a0001c0001t0010g0097	2	316	0.0063	-140	c.149 others(17): Show c.149+1685_149+1824del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMA_chr5_55097646_55115252	55105993	AAATAAAA others(133): Show AAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	390	0.0026	-140	c.215 others(15): Show c.215+378_215+517del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
HACL1_chr3_15555699_15606569	15592885	CATGTGTG others(133): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG02683.hp2 others(8): Show HG01255.hp1 HG02056.hp2 HG02683.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp1 HG03669.hp2 HG04115.hp2 NA18956.hp1 NA18992.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0222 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0003c0006t0001g0330	11	428	0.0257	-140	c.228 others(17): Show c.228-1345_228-1206del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDAC4_chr2_239043168_239406020	239231608	TTGCTCCC others(133): Show TTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCCCGAAGCACCCCTCTCCT CAACCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCT CCCCAAAGCGCCCCTGTCCTCAACCGAGGTTGCTGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01257.hp2 others(11): Show HG00558.hp2 HG00741.hp2 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG03130.hp1 HG03453.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp2 NA18950.hp1 NA18954.hp1 NA19068.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0028 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0003t0005 a0001c0006t0002 a0001c0008t0001 a0001c0028t0013 a0002c0017t0013	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(11): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0002g0217 a0001c0001t0005g0016 a0001c0001t0005g0082 a0001c0001t0007g0052 a0001c0002t0001g0214 a0001c0003t0005g0230 a0001c0006t0002g0191 a0001c0008t0001g0221 a0001c0028t0013g0216 a0002c0017t0013g0220	14	242	0.0579	-140	c.94+ others(15): Show c.94+4845_94+4984del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239231801	CCGAGGCT others(133): Show CCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCC CGAAGCGCCCCTGTCCTCAACCGAGGTTGCTGAGCACCTGCTCCCGGATG CCTGAGGTAGGTGTCCTCCCCGAAGCGCCCCTCTCCTCAAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03492.hp1 NA20300.hp1 others(1): Show HG00323.hp1 HG03492.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0046 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0046 a0001c0002t0024	a0001c0001t0003g0087 a0001c0001t0005g0083 a0001c0001t0046g0055 others(1): Show a0001c0001t0003g0087 a0001c0001t0005g0083 a0001c0001t0046g0055 a0001c0002t0024g0145	4	242	0.0165	-140	c.94+ others(15): Show c.94+4652_94+4791del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HIC1_chr17_2050103_2068241	2052787	GGGGGTTA others(133): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG02071.hp1 others(7): Show HG00621.hp1 HG02040.hp1 HG02071.hp1 HG02451.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG03098.hp1 HG03098.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0004t0014 a0001c0004t0019 a0002c0003t0021 a0002c0003t0035 a0002c0003t0038	a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0008g0001 others(5): Show a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0008g0001 a0001c0004t0014g0002 a0001c0004t0019g0002 a0002c0003t0021g0004 a0002c0003t0035g0004 a0002c0003t0038g0004	10	414	0.0242	-140	c.-24 others(11): Show c.-2471_-2332del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2315		chr17	TogoVar
HUNK_chr21_31868020_32009064	31918984	GGAGGGGC others(133): Show GGAGGGGCTGGACTGAGCGGTATGAGGAGGAGGGGCTGGACTGAGCGGTA TGAGGAGGAGGGGCTGGACTGAGCGGTATGAGGATGAGGGGCTGGACTGA GCGGTATGAGGAGGAGGGGCTGGACTGAGCGGTATGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG02602.hp2 others(9): Show HG00639.hp1 HG02559.hp1 HG02602.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 NA18979.hp2 NA19066.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0003c0011	a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 a0001c0002t0016 a0001c0002t0038 a0001c0005t0001 a0001c0006t0002 a0003c0011t0001	a0001c0001t0001g0069 a0001c0001t0001g0182 a0001c0001t0001g0268 others(9): Show a0001c0001t0001g0069 a0001c0001t0001g0182 a0001c0001t0001g0268 a0001c0001t0001g0294 a0001c0001t0001g0321 a0001c0001t0027g0208 a0001c0002t0002g0180 a0001c0002t0016g0183 a0001c0002t0038g0147 a0001c0005t0001g0157 a0001c0006t0002g0319 a0003c0011t0001g0257	12	328	0.0366	-140	c.262 others(17): Show c.262-5429_262-5290del	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31919096	GGAGGGGC others(133): Show GGAGGGGCTGGACTGAGCGGTATGAGGATGAGGGGCTGGACTGAGCGGTA TGAGGAGGAGGGGCTGGACTGAGCGGTATGAGGTTGAGGGGCTGGACTGA GCGGTATGAGGAGGAGGGGCTGGAATGAGTGGTATGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02148.hp2 HG02976.hp2 others(7): Show HG02040.hp2 HG02148.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0026 a0001c0005t0059 others(3): Show a0001c0001t0001 a0001c0001t0026 a0001c0005t0059 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009	a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0026g0162 others(7): Show a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0026g0162 a0001c0005t0059g0323 a0002c0003t0003g0142 a0002c0003t0003g0151 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0004g0185 a0002c0003t0009g0072	10	328	0.0305	-140	c.262 others(17): Show c.262-5360_262-5221del	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IL3RA_chrX_1331785_1387689	1360876	TCTCTGTC others(133): Show TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	115	0.0087	-140	c.759 others(17): Show c.759+2064_759+2203del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL4_chr5_132668989_132687678	132680583	AGAAGCAA others(133): Show AGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGA TGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACC ACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19007.hp1 HG01358.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0093 a0001c0001t0001g0106	2	422	0.0047	-140	c.360 others(15): Show c.360+765_360+904del	IL4	ENSG00000113520.11	transcript	ENST00000231449.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76703025	TGGGGCAT others(133): Show TGGGGCATTGAGAAGGGGTCTTGCTCTGTCGCCCAGGCTGGAATACAGTG GCATGTATGCCCAGGACTGGAACTTTCATGATCTCATTTTTCCCTCTTTC CTAGAATGGTTTTTCTTTTTTGTGGGGGGAGGGGGTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02572.hp2 HG02965.hp1 HG03453.hp1	a0003 a0006 a0025 a0003 a0006 a0025	a0003c0004 a0006c0008 a0025c0051 a0003c0004 a0006c0008 a0025c0051	a0003c0004t0005 a0006c0008t0002 a0025c0051t0002 a0003c0004t0005 a0006c0008t0002 a0025c0051t0002	a0003c0004t0005g0050 a0006c0008t0002g0103 a0006c0008t0002g0130 others(1): Show a0003c0004t0005g0050 a0006c0008t0002g0103 a0006c0008t0002g0130 a0025c0051t0002g0112	4	222	0.0180	-140	c.461 others(17): Show c.4614+449_4614+588del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	35/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGB2_chr21_44880953_44925899	44912804	AGCTTCAG others(133): Show AGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCC CCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTC CAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(256): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0029 a0001c0030 a0001c0032 a0001c0034 a0003c0045 a0006c0028 a0008c0027 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0004t0001 a0001c0006t0001 a0001c0006t0003 a0001c0006t0004 a0001c0006t0012 a0001c0008t0001 a0001c0008t0003 a0001c0011t0001 a0001c0012t0004 a0001c0013t0003 a0001c0016t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0022t0001 a0001c0025t0004 a0001c0029t0004 a0001c0030t0001 a0001c0032t0001 a0001c0034t0001 a0003c0045t0004 a0006c0028t0003 a0008c0027t0001 a0009c0024t0002	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0021 others(240): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0362 a0001c0001t0001g0387 a0001c0001t0001g0404 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0070 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0218 a0001c0001t0002g0253 a0001c0001t0002g0341 a0001c0001t0002g0374 a0001c0001t0002g0400 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0099 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0168 a0001c0001t0003g0177 a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0003g0255 a0001c0001t0003g0291 a0001c0001t0003g0354 a0001c0001t0003g0360 a0001c0001t0003g0363 a0001c0001t0003g0373 a0001c0001t0003g0377 a0001c0001t0003g0398 a0001c0001t0003g0412 a0001c0001t0003g0416 a0001c0001t0003g0417 a0001c0001t0004g0201 a0001c0001t0004g0280 a0001c0001t0004g0283 a0001c0001t0004g0337 a0001c0001t0004g0345 a0001c0001t0004g0370 a0001c0001t0004g0407 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0105 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0212 a0001c0002t0001g0228 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0278 a0001c0002t0001g0295 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0323 a0001c0002t0001g0326 a0001c0002t0001g0401 a0001c0002t0002g0066 a0001c0002t0002g0083 a0001c0002t0002g0317 a0001c0002t0003g0268 a0001c0003t0001g0209 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0020 a0001c0003t0002g0037 a0001c0003t0002g0049 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0059 a0001c0003t0002g0065 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0187 a0001c0003t0002g0258 a0001c0003t0002g0309 a0001c0003t0002g0325 a0001c0003t0002g0378 a0001c0003t0002g0405 a0001c0003t0002g0413 a0001c0003t0002g0414 a0001c0003t0003g0311 a0001c0003t0006g0217 a0001c0003t0006g0324 a0001c0004t0001g0022 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0001g0063 a0001c0004t0001g0097 a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0148 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0171 a0001c0004t0001g0216 a0001c0004t0001g0225 a0001c0004t0001g0247 a0001c0004t0001g0256 a0001c0004t0001g0262 a0001c0004t0001g0286 a0001c0004t0001g0290 a0001c0004t0001g0304 a0001c0004t0001g0340 a0001c0004t0001g0358 a0001c0004t0001g0359 a0001c0004t0001g0375 a0001c0004t0001g0384 a0001c0004t0001g0390 a0001c0004t0001g0391 a0001c0006t0001g0011 a0001c0006t0001g0094 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0243 a0001c0006t0001g0276 a0001c0006t0001g0349 a0001c0006t0001g0415 a0001c0006t0003g0014 a0001c0006t0003g0098 a0001c0006t0003g0113 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0330 a0001c0006t0004g0334 a0001c0006t0004g0406 a0001c0006t0012g0420 a0001c0008t0001g0144 a0001c0008t0001g0159 a0001c0008t0003g0096 a0001c0008t0003g0149 a0001c0008t0003g0272 a0001c0008t0003g0289 a0001c0008t0003g0300 a0001c0008t0003g0301 a0001c0011t0001g0001 a0001c0011t0001g0138 a0001c0012t0004g0190 a0001c0012t0004g0194 a0001c0012t0004g0203 a0001c0012t0004g0236 a0001c0012t0004g0242 a0001c0012t0004g0264 a0001c0012t0004g0402 a0001c0013t0003g0025 a0001c0013t0003g0056 a0001c0013t0003g0376 a0001c0013t0003g0383 a0001c0016t0001g0353 a0001c0016t0001g0399 a0001c0018t0001g0364 a0001c0019t0001g0024 a0001c0019t0001g0132 a0001c0021t0002g0294 a0001c0022t0001g0095 a0001c0025t0004g0235 a0001c0029t0004g0230 a0001c0030t0001g0316 a0001c0032t0001g0189 a0001c0034t0001g0080 a0003c0045t0004g0335 a0006c0028t0003g0346 a0008c0027t0001g0238 a0009c0024t0002g0068	259	444	0.5833	-140	c.-3- others(15): Show c.-3-2159_-3-2020del	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITPR1_chr3_4488348_4852506	4619626	CTCTGCTC others(133): Show CTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTC CCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTC CTCTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG03098.hp1 others(1): Show HG02572.hp1 HG02976.hp1 HG03098.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0026 a0001c0074 others(1): Show a0001c0002 a0001c0026 a0001c0074 a0006c0098	a0001c0002t0015 a0001c0026t0018 a0001c0074t0003 others(1): Show a0001c0002t0015 a0001c0026t0018 a0001c0074t0003 a0006c0098t0004	a0001c0002t0015g0130 a0001c0026t0018g0117 a0001c0074t0003g0048 others(1): Show a0001c0002t0015g0130 a0001c0026t0018g0117 a0001c0074t0003g0048 a0006c0098t0004g0016	4	176	0.0227	-140	c.164 others(17): Show c.164-8131_164-7992del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4619632	TCTCCCCT others(133): Show TCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGC TCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGC TCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCTTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 homoSapiens_chm13v2.hp1 HG02148.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0018 a0001c0091 a0001c0018 a0001c0091	a0001c0018t0001 a0001c0091t0001 a0001c0018t0001 a0001c0091t0001	a0001c0018t0001g0097 a0001c0091t0001g0091 a0001c0018t0001g0097 a0001c0091t0001g0091	2	176	0.0114	-140	c.164 others(17): Show c.164-8111_164-7972del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL10_chr17_41832825_41853384	41850275	AAATCAGG others(133): Show AAATCAGGAAAACCTGCACACATCATCATGCAATGAAGGACTTACCCCTT CTTTTCAGCCATGGCCTAGGCTGCCTGCTAAGTTAAAAAACAACAGTTTC AATCAAGGTTTTAAAACCAGATTATGCCTAAATCTTATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	394	0.0025	-140	c.19 others(11): Show c.1969_*2108del	KLHL10	ENSG00000161594.7	transcript	ENST00000293303.5	protein_coding		1892		chr17	TogoVar
KNDC1_chr10_133155219_133231412	133223422	TGAGAGCC others(133): Show TGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGCGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0005 a0006c0019t0005	a0006c0019t0005g0277 a0006c0019t0005g0278 a0006c0019t0005g0277 a0006c0019t0005g0278	2	332	0.0060	-140	c.501 others(19): Show c.5019-1233_5019-1094del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522725	CGTTGCCG others(133): Show CGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACATGTTGCCGTATTCTT GGGCCAGTACGCTGGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGG TGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02630.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	460	0.0044	-140	c.-45 others(11): Show c.-4575_-4436del	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4541		chr11	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	AAGTATCT others(133): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTATATA AAATATAGTATCTCTATTTATAGAGATACTATATAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01099.hp1 others(13): Show HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02559.hp1 HG02976.hp1 HG03486.hp1 NA18906.hp1 NA18975.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0004t0006 a0002c0002t0001 a0002c0006t0001 a0003c0005t0004	a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0029 others(13): Show a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0092 a0001c0001t0004g0007 a0001c0001t0004g0060 a0001c0001t0006g0093 a0001c0001t0008g0070 a0001c0004t0006g0074 a0002c0002t0001g0022 a0002c0002t0001g0068 a0002c0006t0001g0051 a0003c0005t0004g0085 a0003c0005t0004g0086	16	94	0.1702	-140	c.144 others(21): Show c.1445-33599_1445-33460del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAT2_chr7_74205006_74234834	74214447	TATATATA others(133): Show TATATATATGAAAATATATATATAAATATATATATATGAAAATATATATA TAAATATATATATATGAAAATATATATAAATATATATATGAATATATATA TATATATATGAAAATATATATATATGAAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG03831.hp2 others(9): Show HG02723.hp2 HG03195.hp1 HG03831.hp2 HG03834.hp2 NA18950.hp1 NA18967.hp1 NA18977.hp1 NA19000.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0229	12	344	0.0349	-140	c.-21 others(17): Show c.-218-366_-218-227del	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LDHAL6A_chr11_18450856_18484601	18467920	CACACACA others(133): Show CACACACATATATATATACACACACATATATATATACGTATATATATACG TATATATATACGTATATATATGCATATATATACGTATATATATACATATA TATACGTATATATATATACATATATATACGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0343 a0001c0001t0012g0343	1	420	0.0024	-140	c.418 others(17): Show c.418+2114_418+2253del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LMF1_chr16_848634_975984	952893	CCACCCCA others(133): Show CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCC ACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18522.hp1 HG01109.hp1 NA18522.hp1	a0001 a0017 a0001 a0017	a0001c0053 a0017c0050 a0001c0053 a0017c0050	a0001c0053t0002 a0017c0050t0001 a0001c0053t0002 a0017c0050t0001	a0001c0053t0002g0031 a0017c0050t0001g0051 a0001c0053t0002g0031 a0017c0050t0001g0051	2	294	0.0068	-140	c.503 others(17): Show c.503+1324_503+1463del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953438	CGGACCCC others(133): Show CGGACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATC CACACAGACACCCCAAACCAGCCTCCTACATATCCACACAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0031 a0001c0053t0002g0031	1	294	0.0034	-140	c.503 others(15): Show c.503+779_503+918del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493981	GGGCGGGG others(133): Show GGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCA GTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGAG GGGCGGGGCAGTGGCGTGGGGAGGGGCAGTGGCGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp1 NA18964.hp2 others(1): Show HG02647.hp1 HG03579.hp1 NA18964.hp2 NA19060.hp2	a0115 a0142 a0148 others(1): Show a0115 a0142 a0148 a0236	a0115c0128 a0142c0125 a0148c0101 others(1): Show a0115c0128 a0142c0125 a0148c0101 a0236c0267	a0115c0128t0001 a0142c0125t0003 a0148c0101t0002 others(1): Show a0115c0128t0001 a0142c0125t0003 a0148c0101t0002 a0236c0267t0003	a0115c0128t0001g0281 a0142c0125t0003g0237 a0148c0101t0002g0142 others(1): Show a0115c0128t0001g0281 a0142c0125t0003g0237 a0148c0101t0002g0142 a0236c0267t0003g0262	4	310	0.0129	-140	c.143 others(17): Show c.1432-325_1432-186del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(133): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	238	0.0042	-140	c.179 others(19): Show c.1791+1297_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LYRM4_chr6_5103419_5265950	5135146	CGGGGCTG others(133): Show CGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTT CACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGT GCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0249 a0002c0002t0015g0249	1	286	0.0035	-140	c.208 others(19): Show c.208-25795_208-25656del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAEA_chr4_1284891_1345137	1333703	CCCCCTTG others(133): Show CCCCCTTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGC CCACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCAT GTGCCCACCCCTGCACCCACCCCATGCCCACCGTGTGCTCA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18989.hp2 NA18972.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0367 a0001c0002t0001g0115 a0001c0001t0001g0367 a0001c0002t0001g0115	2	388	0.0052	-140	c.765 others(15): Show c.765+843_765+982del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP4K4_chr2_101692707_101899690	101785667	TTTCTTTC others(133): Show TTTCTTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02027.hp1 others(14): Show HG01257.hp2 HG01258.hp2 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp2 HG02630.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03710.hp2 NA18522.hp2 NA18612.hp1 NA18947.hp1 NA18992.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0002t0005 a0001c0002t0027 a0003c0006t0014	a0001c0001t0002g0083 a0001c0001t0002g0283 a0001c0001t0002g0286 others(14): Show a0001c0001t0002g0083 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0004g0159 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0016g0160 a0001c0001t0016g0169 a0001c0002t0005g0219 a0001c0002t0005g0220 a0001c0002t0005g0224 a0001c0002t0027g0221 a0003c0006t0014g0165	17	310	0.0548	-140	c.124 others(17): Show c.124-5044_124-4905del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBTPS1_chr16_84048763_84121942	84050794	CCCCATGT others(133): Show CCCCATGTGGGTAAGGAGAGCAGCAAGGCCCGCATGTGGGTAAGGAGAGC TGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0003 a0012c0023t0003	a0012c0023t0003g0378 a0012c0023t0003g0378	1	424	0.0024	-140	c.35 others(11): Show c.3515_*3654del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2968		chr16	TogoVar
MGMT_chr10_129462241_129775983	129773308	TGTGGCCT others(133): Show TGTGGCCTGCTGGGGTGTCCCTCCAAGGTGTGGCCTGCTGGGGTGTCCCT CCAAGGCGTGGCCTGCTGGGGTGTCCCTGCAAGGCGTGGCCTGCTGGGGT GTCCCTCCAAGGCGTGGCCTGCTGGGGTGTCCCTCCAAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0040	a0001c0005t0040g0194 a0001c0005t0040g0194	1	194	0.0052	-140	c.63 others(11): Show c.6312_*6451del	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding		2326		chr10	TogoVar
MOXD1_chr6_132291055_132406475	132303806	CATGTGTG others(133): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA TATATATATATATATATATATATACATATATACATAAAACCTTAGGACAA TTCTCTGGGTGGCCCTGGACCAATCCAATCCATTCTCATTT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	318	0.0031	-140	c.150 others(19): Show c.1509-5991_1509-5852del	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	10/11			chr6	TogoVar
MSH3_chr5_80649652_80881815	80692356	ATAGATAA others(133): Show ATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGAT AGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAG ATAAACATGTATATGTTTAGATAGATAAACATGTATATGTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18948.hp1 NA18949.hp2 others(1): Show HG06807.hp2 NA18948.hp1 NA18949.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0114 a0001c0002t0001g0143 a0001c0002t0001g0147 others(1): Show a0001c0002t0001g0114 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0005g0037	4	362	0.0111	-140	c.134 others(21): Show c.1340+13270_1340+13409del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MUC5AC_chr11_1152953_1206138	1166859	AACACACA others(133): Show AACACACAGTCTCCCCAAGATGAGACCCTGCACCCGACACACAGTCTCTG CACGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACCCTG CACCCAACACACAGTCTCCCCAAGATGAGACCCTGCACCCG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0164 a0004c0047t0001g0164	1	292	0.0034	-140	c.138 others(18): Show c.1387-1005_1387-866del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar

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