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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DRD4_chr11_632269_645706	639557	TCCCCGCC others(20): Show TCCCCGCCCGCGCCCCGGCGCCCCCGCG	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	421	0.0024	-27	c.398 others(40): Show c.398+23_398+49delGCCCCGGCGCCCCCGCGCCCCGCCCGC		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
DSPP_chr4_87603529_87621873	87615701	TGATAGCA others(20): Show TGATAGCAGTAATAGTAGTGACAGCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18948.hp1 NA18948.hp1	a0051 a0051	a0051c0056 a0051c0056	a0051c0056t0001 a0051c0056t0001	a0051c0056t0001g0002 a0051c0056t0001g0002	1	450	0.0022	-27	c.304 others(36): Show c.3040_3066delGATAGCAGTAATAGTAGTGACAGCAGC	p.Asp others(15): Show p.Asp1014_Ser1022del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3160/4331	3040/3906	1014/1301			chr4	TogoVar
DSPP_chr4_87603529_87621873	87616053	GACAGCAG others(20): Show GACAGCAGTGATAGCAGTGACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(190): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(20): Show a0001 a0004 a0007 a0009 a0010 a0014 a0015 a0019 a0022 a0023 a0025 a0028 a0031 a0033 a0034 a0035 a0037 a0039 a0040 a0044 a0050 a0051 a0057	a0001c0001 a0004c0005 a0004c0010 others(29): Show a0001c0001 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0007c0006 a0007c0015 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0014c0013 a0015c0024 a0015c0038 a0019c0036 a0019c0068 a0019c0075 a0022c0025 a0023c0027 a0025c0029 a0028c0035 a0031c0032 a0033c0069 a0034c0054 a0035c0049 a0037c0072 a0039c0067 a0040c0055 a0044c0073 a0050c0074 a0051c0056 a0057c0062	a0001c0001t0001 a0004c0005t0001 a0004c0010t0001 others(29): Show a0001c0001t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0007c0006t0001 a0007c0015t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0014c0013t0001 a0015c0024t0001 a0015c0038t0001 a0019c0036t0001 a0019c0068t0001 a0019c0075t0001 a0022c0025t0001 a0023c0027t0001 a0025c0029t0001 a0028c0035t0001 a0031c0032t0001 a0033c0069t0001 a0034c0054t0001 a0035c0049t0001 a0037c0072t0001 a0039c0067t0001 a0040c0055t0001 a0044c0073t0001 a0050c0074t0001 a0051c0056t0001 a0057c0062t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0061 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 a0007c0006t0001g0020 a0007c0006t0001g0021 a0007c0006t0001g0037 a0007c0006t0001g0064 a0007c0015t0001g0015 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0014c0013t0001g0002 a0014c0013t0001g0009 a0014c0013t0001g0012 a0015c0024t0001g0016 a0015c0024t0001g0017 a0015c0024t0001g0036 a0015c0038t0001g0020 a0019c0036t0001g0043 a0019c0036t0001g0046 a0019c0068t0001g0056 a0019c0075t0001g0045 a0022c0025t0001g0002 a0023c0027t0001g0027 a0025c0029t0001g0002 a0025c0029t0001g0025 a0028c0035t0001g0030 a0031c0032t0001g0002 a0033c0069t0001g0058 a0034c0054t0001g0026 a0035c0049t0001g0002 a0037c0072t0001g0015 a0039c0067t0001g0005 a0040c0055t0001g0012 a0044c0073t0001g0063 a0050c0074t0001g0069 a0051c0056t0001g0002 a0057c0062t0003g0053	193	450	0.4289	-27	c.340 others(36): Show c.3402_3428delTAGCAGTGACAGCAGCAACAGCAGTGA	p.Ser others(15): Show p.Ser1135_Asp1143del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3522/4331	3402/3906	1134/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSTYK_chr1_205137505_205216702	205207755	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0123 a0001c0007t0012g0123	1	348	0.0029	-27	c.265 others(44): Show c.265+3489_265+3515delTTTTTTTTTTTTTTTTTTTTTTTTTTT		DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12						chr1	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp1 HG02572.hp1 others(6): Show HG00323.hp1 HG02055.hp1 HG02572.hp1 HG02630.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0011 a0002c0009t0006 a0001c0001t0001 a0001c0001t0011 a0002c0009t0006	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0011g0252 a0001c0001t0011g0253 a0001c0001t0011g0254 a0002c0009t0006g0135	9	364	0.0247	-27	c.460 others(44): Show c.460+4043_460+4069delTTTTTTTTTTTTTTTTTTTTTTTTTTT		DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
DUSP14_chr17_37484891_37518498	37509270	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG02004.hp2 others(1): Show HG01109.hp1 HG01361.hp2 HG02004.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0261 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	4	421	0.0095	-27	c.-18 others(46): Show c.-180-1406_-180-1380delATATATATATATATATATATATATAT A		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2						chr17	TogoVar
DUSP15_chr20_31856077_31875527	31861975	GCTTTGCA others(20): Show GCTTTGCACTTCTGGGTAACTCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG03209.hp1 others(3): Show HG02055.hp2 HG02630.hp2 HG03209.hp1 HG06807.hp1 NA18522.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0006 a0002c0002t0001 a0003c0008t0001 a0001c0001t0006 a0002c0002t0001 a0003c0008t0001	a0001c0001t0006g0049 a0002c0002t0001g0036 a0002c0002t0001g0095 others(2): Show a0001c0001t0006g0049 a0002c0002t0001g0036 a0002c0002t0001g0095 a0002c0002t0001g0096 a0003c0008t0001g0097	6	378	0.0159	-27	c.436 others(42): Show c.436-327_436-301delTGGGAGGAGTTACCCAGAAGTGCAAAG		DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding	6/6						chr20	TogoVar
DUSP16_chr12_12468282_12567863	12472706	CCACCTGG others(20): Show CCACCTGGAACTCGCACTGGCCTGCAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(78): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02922.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0015 a0002c0002t0023 a0002c0002t0026 a0002c0003t0004 a0002c0003t0013 a0002c0003t0036 a0002c0003t0039 a0002c0009t0004	a0001c0001t0001g0086 a0001c0001t0003g0026 a0001c0001t0003g0036 others(75): Show a0001c0001t0001g0086 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0015g0113 a0002c0002t0003g0007 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0004g0128 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0004g0193 a0002c0002t0004g0195 a0002c0002t0004g0295 a0002c0002t0004g0322 a0002c0002t0011g0029 a0002c0002t0011g0031 a0002c0002t0011g0032 a0002c0002t0011g0050 a0002c0002t0015g0289 a0002c0002t0023g0037 a0002c0002t0026g0061 a0002c0003t0004g0001 a0002c0003t0004g0118 a0002c0003t0004g0124 a0002c0003t0004g0185 a0002c0003t0004g0186 a0002c0003t0004g0240 a0002c0003t0004g0242 a0002c0003t0004g0244 a0002c0003t0004g0245 a0002c0003t0004g0246 a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253 a0002c0003t0013g0068 a0002c0003t0013g0069 a0002c0003t0036g0250 a0002c0003t0039g0241 a0002c0009t0004g0194	81	352	0.2301	-27	c.41 others(38): Show c.4100_*4126delCTTGCAGGCCAGTGCGAGTTCCAGGTG		DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding					575		chr12	TogoVar
DUSP22_chr6_287487_356355	317891	AGAAATCA others(20): Show AGAAATCATGTCTCATCACGTCTTTGGC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	221	0.0045	-27	c.138 others(44): Show c.138+5930_138+5956delGAAATCATGTCTCATCACGTCTTTGGC		DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	3/6						chr6	TogoVar
DUSP2_chr2_96138169_96150440	96138597	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(68): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0007t0001g0016 a0004c0005t0001g0012	71	422	0.1683	-27	c.51 others(38): Show c.5199_*5225delATGGTTGGGGCGGGGCTGCAGGTGGAG		DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding					4571		chr2	TogoVar
DUXA_chr19_57149021_57172485	57158257	GGCCCATG others(20): Show GGCCCATGTGGCTTCCCTTCCTGTATAC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	446	0.0022	-27	c.438 others(40): Show c.438+44_438+70delGTATACAGGAAGGGAAGCCACATGGGC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5						chr19	TogoVar
EAF1_chr3_15422598_15447613	15434345	CAGAGCTG others(20): Show CAGAGCTGAGGGCAGCAGTAAAATCCAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0024 a0003c0008t0024	a0003c0008t0024g0106 a0003c0008t0024g0106	1	418	0.0024	-27	c.336 others(36): Show c.336-2_360delAGAGCTGAGGGCAGCAGTAAAATCCAG	p.Ala others(5): Show p.Ala113fs	EAF1	ENSG00000144597.14	transcript	ENST00000396842.7	protein_coding	4/6		336/807	112/268			chr3	TogoVar
EAF2_chr3_121830209_121891526	121841517	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp1 HG01070.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0227 a0001c0001t0001g0228	2	318	0.0063	-27	c.107 others(44): Show c.107-2932_107-2906delAAAAAAAAAAAAAAAAAAAAAAAGAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF1_chr5_158690920_159104916	158840646	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp2 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0045 a0001c0001t0015 a0001c0001t0045	a0001c0001t0015g0035 a0001c0001t0045g0031 a0001c0001t0015g0035 a0001c0001t0045g0031	2	196	0.0102	-27	c.555 others(42): Show c.555-563_555-537delCAAAAAAAAAAAAAAAAAAAAAAAAAA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBI3_chr19_4224523_4242528	4228709	CTGTCGTC others(20): Show CTGTCGTCTCCCTGTCTCTCTATCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(71): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02572.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp1 NA18522.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18959.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0004 a0003c0009 a0004c0006	a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002 a0003c0009t0002 a0004c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0003t0002g0188 a0001c0008t0001g0193 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0050 a0002c0002t0002g0059 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0127 a0002c0002t0002g0143 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0006g0159 a0002c0004t0002g0040 a0002c0004t0002g0060 a0002c0004t0002g0061 a0003c0009t0002g0144 a0004c0006t0002g0059	74	438	0.1690	-27	c.-84 others(36): Show c.-841_-815delTGTCGTCTCCCTGTCTCTCTATCTCTT		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding					813		chr19	TogoVar
ECE2_chr3_184271022_184298031	184274763	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	398	0.0025	-27	c.-13 others(38): Show c.-1390_-1364delAAAGAAAGAAAGAAAGAAAGAAAGAGA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding					1258		chr3	TogoVar
ECSCR_chr5_139443560_139467743	139459102	AAACTAGT others(20): Show AAACTAGTGACATTTCTAAGGACAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	369	0.0027	-27	c.62- others(40): Show c.62-946_62-920delCTTCTGTCCTTAGAAATGTCACTAGTT		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9						chr5	TogoVar
ECT2L_chr6_138791087_138909070	138854842	TGAAGAGA others(20): Show TGAAGAGAAACTTCAGAAGCATTAAGTC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	326	0.0031	-27	c.119 others(44): Show c.1198+689_1198+715delGAAGAGAAACTTCAGAAGCATTAAGTC		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21						chr6	TogoVar
ECT2L_chr6_138791087_138909070	138856191	ACCCCCAC others(20): Show ACCCCCACCACAGCAATTCTTTTTGTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023	a0001c0001 a0001c0003 a0001c0009 others(33): Show a0001c0001 a0001c0003 a0001c0009 a0001c0018 a0001c0021 a0001c0022 a0001c0033 a0001c0034 a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0004c0008 a0005c0007 a0005c0024 a0006c0010 a0007c0011 a0007c0015 a0008c0013 a0008c0031 a0009c0012 a0009c0025 a0010c0019 a0010c0023 a0011c0017 a0012c0016 a0013c0038 a0014c0020 a0015c0036 a0016c0032 a0017c0027 a0018c0026 a0019c0028 a0020c0029 a0022c0035 a0023c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0009t0004 a0001c0009t0028 a0001c0018t0020 a0001c0021t0004 a0001c0022t0003 a0001c0033t0002 a0001c0034t0023 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0005t0002 a0003c0004t0004 a0003c0004t0007 a0004c0006t0001 a0004c0006t0009 a0004c0006t0015 a0004c0008t0009 a0005c0007t0001 a0005c0024t0005 a0006c0010t0010 a0007c0011t0014 a0007c0011t0021 a0007c0015t0003 a0008c0013t0002 a0008c0013t0005 a0008c0031t0017 a0009c0012t0003 a0009c0012t0018 a0009c0025t0020 a0010c0019t0011 a0010c0023t0002 a0011c0017t0012 a0012c0016t0002 a0013c0038t0002 a0014c0020t0002 a0015c0036t0002 a0016c0032t0005 a0017c0027t0001 a0018c0026t0012 a0019c0028t0002 a0020c0029t0001 a0022c0035t0003 a0023c0037t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(270): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0001g0293 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0240 a0001c0001t0002g0296 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0095 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0291 a0001c0001t0004g0040 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0157 a0001c0001t0004g0195 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0001t0004g0249 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0005g0115 a0001c0001t0005g0277 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0001t0006g0029 a0001c0001t0006g0055 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0254 a0001c0001t0006g0256 a0001c0001t0006g0258 a0001c0001t0006g0270 a0001c0001t0006g0278 a0001c0001t0006g0286 a0001c0001t0007g0006 a0001c0001t0008g0158 a0001c0001t0008g0250 a0001c0001t0008g0318 a0001c0001t0009g0152 a0001c0001t0016g0211 a0001c0001t0016g0212 a0001c0001t0022g0287 a0001c0001t0024g0031 a0001c0001t0029g0262 a0001c0003t0002g0037 a0001c0003t0002g0058 a0001c0003t0002g0075 a0001c0003t0002g0150 a0001c0003t0002g0163 a0001c0003t0002g0172 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0185 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0200 a0001c0003t0002g0304 a0001c0003t0002g0326 a0001c0003t0003g0020 a0001c0003t0003g0124 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0003t0003g0214 a0001c0003t0003g0232 a0001c0003t0003g0235 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0248 a0001c0003t0005g0259 a0001c0003t0005g0260 a0001c0003t0005g0275 a0001c0003t0005g0292 a0001c0003t0013g0222 a0001c0009t0004g0121 a0001c0009t0028g0107 a0001c0018t0020g0007 a0001c0021t0004g0143 a0001c0022t0003g0142 a0001c0033t0002g0299 a0001c0034t0023g0016 a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0097 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0162 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0189 a0002c0002t0001g0205 a0002c0002t0001g0253 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0002g0057 a0002c0002t0002g0077 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0003g0022 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0004g0002 a0002c0002t0004g0096 a0002c0002t0004g0131 a0002c0002t0004g0139 a0002c0002t0004g0147 a0002c0002t0004g0216 a0002c0002t0004g0234 a0002c0002t0005g0290 a0002c0002t0006g0033 a0002c0002t0006g0224 a0002c0002t0006g0261 a0002c0002t0006g0284 a0002c0002t0007g0166 a0002c0002t0007g0233 a0002c0002t0007g0247 a0002c0002t0007g0288 a0002c0002t0008g0064 a0002c0002t0008g0118 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0153 a0002c0002t0019g0091 a0002c0002t0019g0167 a0002c0002t0026g0039 a0002c0002t0027g0062 a0002c0005t0002g0069 a0002c0005t0002g0070 a0002c0005t0002g0223 a0002c0005t0002g0323 a0003c0004t0004g0241 a0003c0004t0004g0242 a0003c0004t0004g0243 a0003c0004t0007g0320 a0003c0004t0007g0321 a0003c0004t0007g0322 a0003c0004t0007g0324 a0004c0006t0001g0311 a0004c0006t0001g0313 a0004c0006t0009g0310 a0004c0006t0015g0213 a0004c0006t0015g0312 a0004c0008t0009g0298 a0004c0008t0009g0309 a0004c0008t0009g0314 a0005c0007t0001g0300 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303 a0005c0007t0001g0317 a0005c0024t0005g0276 a0006c0010t0010g0206 a0006c0010t0010g0209 a0006c0010t0010g0210 a0007c0011t0014g0013 a0007c0011t0014g0237 a0007c0011t0021g0236 a0007c0015t0003g0238 a0007c0015t0003g0239 a0008c0013t0002g0043 a0008c0013t0005g0267 a0008c0013t0005g0269 a0008c0031t0017g0316 a0009c0012t0003g0021 a0009c0012t0018g0008 a0009c0012t0018g0009 a0009c0025t0020g0004 a0010c0019t0011g0151 a0010c0019t0011g0168 a0010c0023t0002g0180 a0011c0017t0012g0219 a0011c0017t0012g0221 a0012c0016t0002g0307 a0012c0016t0002g0308 a0013c0038t0002g0173 a0014c0020t0002g0315 a0015c0036t0002g0305 a0016c0032t0005g0268 a0017c0027t0001g0005 a0018c0026t0012g0218 a0019c0028t0002g0089 a0020c0029t0001g0054 a0022c0035t0003g0159 a0023c0037t0002g0036	273	326	0.8374	-27	c.119 others(46): Show c.1198+2046_1198+2072delACAGCAATTCTTTTTGTCTCCCCCAC C		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138856200	ACAGCAAT others(20): Show ACAGCAATTCTTTTTGTCTCCCCCACCC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02895.hp2 others(2): Show HG02615.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0010 a0002c0002t0017 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0017 a0002c0005t0013	a0001c0001t0001g0306 a0001c0001t0010g0319 a0002c0002t0017g0010 others(2): Show a0001c0001t0001g0306 a0001c0001t0010g0319 a0002c0002t0017g0010 a0002c0005t0013g0217 a0002c0005t0013g0220	5	326	0.0153	-27	c.119 others(46): Show c.1198+2049_1198+2075delGCAATTCTTTTTGTCTCCCCCACCCC A		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
EDIL3_chr5_83935554_84389880	84049719	GCTCAAAG others(20): Show GCTCAAAGTATTAGTTGAATTTTAAAGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0040 a0001c0001t0006g0041	2	158	0.0127	-27	c.113 others(48): Show c.1137+10554_1137+10580delACTTTAAAATTCAACTAATACTTT GAG		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10						chr5	TogoVar
EEA1_chr12_92765637_92934295	92895133	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0033 a0002c0004t0033	a0002c0004t0033g0233 a0002c0004t0033g0233	1	244	0.0041	-27	c.25- others(42): Show c.25-3439_25-3413delAAAAAAAAAAAAAAAAAAAAAAAAAAA		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28						chr12	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263189	CTGGAAGA others(20): Show CTGGAAGAGAGTCCAGAAAATTCCACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	378	0.0027	-27	c.46 others(38): Show c.4615_*4641delTGGAAGAGAGTCCAGAAAATTCCACAT		EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding					4431		chr3	TogoVar
EEF1B2_chr2_206154895_206167928	206162904	ATTTAAAT others(20): Show ATTTAAATAAAAGATTGAAAGATTACCT	A A	splice_region_variant splice_region_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	360	0.0028	-27	c.22 others(34): Show c.22_*48delTTTAAATAAAAGATTGAAAGATTACCT		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding	6/6						chr2	TogoVar
EEF1D_chr8_143574728_143602415	143575823	GGGTGGGG others(20): Show GGGTGGGGAAGGAGGTGCCAGTGCCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	389	0.0026	-27	c.39 others(38): Show c.3942_*3968delTAGGGCACTGGCACCTCCTTCCCCACC		EEF1D	ENSG00000104529.19	transcript	ENST00000618139.4	protein_coding					3904		chr8	TogoVar
EEF1D_chr8_143574728_143602415	143575880	TGAAGGGG others(20): Show TGAAGGGGGTGGCAGTGCCCTGGGTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	389	0.0026	-27	c.38 others(38): Show c.3885_*3911delCCCACCCAGGGCACTGCCACCCCCTTC		EEF1D	ENSG00000104529.19	transcript	ENST00000618139.4	protein_coding					3847		chr8	TogoVar
EEFSEC_chr3_128148481_128413646	128330861	CCCCATTC others(20): Show CCCCATTCCTCAGTGCATCTCCCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02922.hp2 others(2): Show HG02280.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0210 a0003c0004t0001g0211 others(2): Show a0003c0004t0001g0070 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213	5	272	0.0184	-27	c.787 others(46): Show c.787-10368_787-10342delATTCCTCAGTGCATCTCCCCTCTTCC C		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128331116	CCCCCCTT others(20): Show CCCCCCTTCTCAGTGCATCTCCCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0017 a0002c0007t0001g0017	1	272	0.0037	-27	c.787 others(46): Show c.787-10111_787-10085delTTCTCAGTGCATCTCCCCTCTTCCCC C		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128374309	TGTGCTTG others(20): Show TGTGCTTGTAGACTTGTGTAAGCGGACC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02015.hp1 HG00438.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0161	2	272	0.0074	-27	c.160 others(48): Show c.1600+15943_1600+15969delGTAGACTTGTGTAAGCGGACCGTG CTT		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG2_chr1_108555100_108644322	108560276	GCCCCGGC others(20): Show GCCCCGGCCGCGGCCGGCCTGCGGCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0022 a0001c0001t0011g0020 a0001c0001t0011g0022	2	272	0.0074	-27	c.-14 others(36): Show c.-141_-115delGCCGGCCTGCGGCGCCCCCCGGCCGCG		EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/11				115	INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245082500	GTTGGTTC others(20): Show GTTGGTTCATCATAGAAGTCTTGTGCCC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	290	0.0035	-27	c.263 others(42): Show c.263+339_263+365delTTGGTTCATCATAGAAGTCTTGTGCCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	5/7						chr1	TogoVar
EFHC1_chr6_52415342_52502198	52472636	TCATACAA others(20): Show TCATACAAGAGATATGTAATATCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(136): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0011	a0001c0001 a0002c0003 a0002c0007 others(3): Show a0001c0001 a0002c0003 a0002c0007 a0005c0005 a0007c0008 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0001t0065 a0001c0001t0085 a0001c0001t0087 a0001c0001t0092 a0001c0001t0095 a0001c0001t0099 a0002c0003t0003 a0002c0003t0018 a0002c0003t0022 a0002c0007t0001 a0002c0007t0051 a0005c0005t0001 a0007c0008t0014 a0011c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0264 a0001c0001t0009g0008 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0093 a0001c0001t0019g0008 a0001c0001t0019g0091 a0001c0001t0019g0106 a0001c0001t0020g0086 a0001c0001t0020g0087 a0001c0001t0020g0094 a0001c0001t0027g0092 a0001c0001t0037g0088 a0001c0001t0039g0187 a0001c0001t0039g0198 a0001c0001t0065g0177 a0001c0001t0085g0069 a0001c0001t0087g0074 a0001c0001t0092g0279 a0001c0001t0095g0197 a0001c0001t0099g0183 a0002c0003t0003g0004 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0084 a0002c0003t0003g0085 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0104 a0002c0003t0003g0105 a0002c0003t0003g0218 a0002c0003t0018g0004 a0002c0003t0018g0098 a0002c0003t0018g0100 a0002c0003t0022g0219 a0002c0007t0001g0159 a0002c0007t0001g0160 a0002c0007t0001g0161 a0002c0007t0001g0163 a0002c0007t0051g0162 a0005c0005t0001g0022 a0005c0005t0001g0076 a0005c0005t0001g0079 a0005c0005t0001g0080 a0005c0005t0001g0081 a0005c0005t0001g0082 a0005c0005t0001g0083 a0005c0005t0001g0096 a0007c0008t0014g0012 a0007c0008t0014g0095 a0011c0015t0001g0028	139	396	0.3510	-27	c.127 others(46): Show c.1278+3263_1278+3289delTATCTTTTACATACAAGAGATATGTA A		EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHD1_chr2_232628604_232687776	232682368	CTTGCTCC others(20): Show CTTGCTCCGTCTATGTCTTCCCAGCTCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0216 a0001c0001t0016g0216	1	382	0.0026	-27	c.65 others(36): Show c.650_*676delTTGCTCCGTCTATGTCTTCCCAGCTCA		EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	4/4				650		chr2	TogoVar
EFNA2_chr19_1280873_1306431	1282621	GGGGAGGA others(20): Show GGGGAGGAGGGAGGGAGGAGGGTGTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 NA19030.hp2 HG01891.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0044 a0001c0004t0081 a0001c0001t0002 a0001c0001t0044 a0001c0004t0081	a0001c0001t0002g0067 a0001c0001t0044g0053 a0001c0004t0081g0127 a0001c0001t0002g0067 a0001c0001t0044g0053 a0001c0004t0081g0127	3	294	0.0102	-27	c.-35 others(38): Show c.-3547_-3521delGGGAGGAGGGAGGGAGGAGGGTGTGAA		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					3251		chr19	TogoVar
EFNA5_chr5_107371894_107675937	107591890	ATTATATA others(20): Show ATTATATATAATATATAATATAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	190	0.0053	-27	c.125 others(46): Show c.125+78572_125+78598delATTTTTTATATTATATATTATATATA A		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591891	TTATATAT others(20): Show TTATATATAATATATAATATAAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(55): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18965.hp1 NA18965.hp2 NA18978.hp2 NA18983.hp2 NA18994.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19086.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0041 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0065 a0001c0001t0072 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099	a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0001g0134 others(55): Show a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0069 a0001c0001t0002g0144 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0184 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0148 a0001c0001t0005g0147 a0001c0001t0007g0119 a0001c0001t0007g0142 a0001c0001t0007g0146 a0001c0001t0008g0017 a0001c0001t0008g0125 a0001c0001t0008g0157 a0001c0001t0009g0127 a0001c0001t0009g0143 a0001c0001t0009g0174 a0001c0001t0009g0182 a0001c0001t0010g0050 a0001c0001t0010g0137 a0001c0001t0010g0141 a0001c0001t0010g0154 a0001c0001t0011g0173 a0001c0001t0012g0178 a0001c0001t0014g0045 a0001c0001t0015g0181 a0001c0001t0016g0035 a0001c0001t0016g0123 a0001c0001t0017g0156 a0001c0001t0018g0064 a0001c0001t0020g0149 a0001c0001t0021g0118 a0001c0001t0023g0155 a0001c0001t0024g0046 a0001c0001t0024g0138 a0001c0001t0029g0150 a0001c0001t0030g0042 a0001c0001t0031g0001 a0001c0001t0035g0167 a0001c0001t0041g0172 a0001c0001t0053g0036 a0001c0001t0054g0140 a0001c0001t0057g0177 a0001c0001t0065g0048 a0001c0001t0072g0014 a0001c0001t0091g0151 a0001c0001t0092g0023 a0001c0001t0094g0116 a0001c0001t0098g0084 a0001c0001t0099g0128	58	190	0.3053	-27	c.125 others(46): Show c.125+78571_125+78597delTATTTTTTATATTATATATTATATAT A		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EGFR_chr7_55014017_55216628	55203116	TACACATA others(20): Show TACACATACACACATATACACACACCAC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	250	0.0040	-27	c.327 others(44): Show c.3271+503_3271+529delCATATACACACACCACACACATACACA		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT2_chr6_31874759_31902698	31901932	AGCGCGCA others(20): Show AGCGCGCAGGCGCGGGGATGCACGGGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA19088.hp2 NA18995.hp1 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0013 a0001c0004t0001g0013	2	413	0.0048	-27	c.-42 others(38): Show c.-4282_-4256delGTCCCGTGCATCCCCGCGCCTGCGCGC		EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding					4235		chr6	TogoVar
EID2_chr19_39533707_39545161	39539773	CTTCCCTG others(20): Show CTTCCCTGGCCGCCGCCGCCGCCGGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0000 a0007c0010t0004g0000	1	420	0.0024	-27	c.280 others(34): Show c.280_306delAGCCCGGCGGCGGCGGCGGCCAGGGAA	p.Ser others(12): Show p.Ser94_Glu102del	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding	1/1	388/1455	280/711	94/236			chr19	TogoVar
EIF2A_chr3_150541787_150591016	150565902	TCTCCTGC others(20): Show TCTCCTGCCTCAGCCTCCTGAGTAGCTG	T T	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0085 a0005c0007t0001g0085	1	394	0.0025	-27	c.475 others(44): Show c.475+1522_475+1548delCTCCTGCCTCAGCCTCCTGAGTAGCTG		EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	6/13						chr3	TogoVar
EIF4E3_chr3_71670414_71730402	71714279	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAACG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	398	0.0025	-27	c.177 others(44): Show c.177-3822_177-3796delCGTTCCTTCCTTCCTTCCTTCCTTCCT		EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6						chr3	TogoVar
EIF4E_chr4_98874276_98934133	98930785	CAGAAGTG others(20): Show CAGAAGTGATTAATGAAAGCTTTTGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	300	0.0033	-27	c.-17 others(38): Show c.-1700_-1674delAGACAAAAGCTTTCATTAATCACTTCT		EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding					1653		chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20981590	CATACATG others(20): Show CATACATGTATACGCACATACTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02300.hp1 HG02129.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0054 a0001c0001t0002g0059	2	312	0.0064	-27	c.199 others(42): Show c.199-390_199-364delACATACAGTATGTGCGTATACATGTAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36						chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01975.hp2 HG03195.hp2 others(4): Show HG01070.hp1 HG01975.hp2 HG03195.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0160 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0160 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0280	7	374	0.0187	-27	c.60- others(40): Show c.60-797_60-771delTTTTTTTTTTTTTTTTTTTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3247001	GGAGGAGA others(20): Show GGAGGAGAGAGCGAGGGAGGGAGAGAGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	250	0.0040	-27	c.416 others(46): Show c.416+10271_416+10297delGCTCTCTCCCTCCCTCGCTCTCTCCT C		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02602.hp2 HG02717.hp1 others(8): Show HG02004.hp2 HG02602.hp2 HG02717.hp1 HG03209.hp2 HG03540.hp1 NA18747.hp1 NA18946.hp2 NA18984.hp1 NA19068.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 others(8): Show a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0237 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0006g0166 a0001c0002t0002g0035 a0001c0002t0002g0044	11	352	0.0313	-27	c.-15 others(46): Show c.-15-17757_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT T		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELF2_chr4_139052265_139182218	139151033	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp2 others(4): Show HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01346.hp1 NA19066.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0320 others(4): Show a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0328	7	342	0.0205	-27	c.-25 others(48): Show c.-251-11563_-251-11537delCTTTCTTTCTTTCTTTCTTTCTTT CTT		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9						chr4	TogoVar
ELMOD1_chr11_107586147_107671779	107590331	TTTCTCTC others(20): Show TTTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG00639.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0003g0195 a0001c0001t0001g0159 a0001c0001t0003g0195	2	342	0.0059	-27	c.-11 others(38): Show c.-1163_-1137delTTCTCTCTCTCTCTCTCTCTCTCTCTC		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding					815		chr11	TogoVar
ELOF1_chr19_11548046_11564230	11550951	ACACACAC others(20): Show ACACACACACACACACACACACACGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	412	0.0024	-27	c.27 others(38): Show c.2768_*2794delGGTCGTGTGTGTGTGTGTGTGTGTGTG		ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding					2094		chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53306237	AGGGAGAG others(20): Show AGGGAGAGGGGAGAGGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	320	0.0031	-27	c.-8- others(44): Show c.-8-10557_-8-10531delCTCTCCCTCTCCCCTCTCCCCTCTCCC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar

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