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
DTX4_chr11_59167132_59213588	59175236	AACATCCC others(12): Show AACATCCCCATAAACAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	388	0.0026	-19	c.211 others(36): Show c.211+2432_211+2450delCATCCCCATAAACAAAAGA		DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
DTYMK_chr2_241670747_241691815	241677313	TCGCCCAG others(12): Show TCGCCCAGAACCGCCCAAGA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	418	0.0024	-19	c.529 others(36): Show c.529-1095_529-1077delTCTTGGGCGGTTCTGGGCG		DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding	4/4						chr2	TogoVar
DUSP14_chr17_37484891_37518498	37509266	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	420	0.0024	-19	c.-18 others(38): Show c.-180-1410_-180-1392delATATATATATATATATATA		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2						chr17	TogoVar
DUSP18_chr22_30656445_30672875	30658995	GTCCCTGT others(12): Show GTCCCTGTAGTCCCAGCTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-19	c.44 others(30): Show c.4423_*4441delATAGCTGGGACTACAGGGA		DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding					2449		chr22	TogoVar
DUSP22_chr6_287487_356355	322099	CATCTACA others(12): Show CATCTACATAGTGTATACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	220	0.0045	-19	c.138 others(38): Show c.138+10179_138+10197delTACATAGTGTATACATATC		DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP29_chr10_75032472_75078642	75074312	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	337	0.0030	-19	c.-79 others(28): Show c.-797_-779delATATATATATATATTTTTT		DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding					671		chr10	TogoVar
DUSP4_chr8_29328064_29355684	29350795	CGTCCCCC others(12): Show CGTCCCCCGCCCCCCGCGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0035 a0001c0004t0002 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(144): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0003g0009 a0001c0001t0003g0023 a0001c0001t0003g0042 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0006g0039 a0001c0001t0006g0184 a0001c0001t0006g0186 a0001c0001t0007g0193 a0001c0001t0007g0198 a0001c0001t0008g0185 a0001c0001t0009g0024 a0001c0001t0010g0074 a0001c0001t0010g0085 a0001c0001t0011g0046 a0001c0001t0011g0053 a0001c0001t0012g0161 a0001c0001t0012g0162 a0001c0001t0013g0169 a0001c0001t0013g0170 a0001c0001t0016g0164 a0001c0001t0017g0211 a0001c0001t0017g0213 a0001c0001t0018g0217 a0001c0001t0018g0218 a0001c0001t0019g0215 a0001c0001t0019g0216 a0001c0001t0020g0043 a0001c0001t0021g0057 a0001c0001t0022g0048 a0001c0001t0023g0058 a0001c0001t0024g0079 a0001c0001t0025g0073 a0001c0001t0026g0096 a0001c0001t0027g0068 a0001c0001t0028g0065 a0001c0001t0029g0101 a0001c0001t0030g0102 a0001c0001t0031g0103 a0001c0001t0038g0183 a0001c0001t0039g0212 a0001c0001t0040g0206 a0001c0001t0043g0222 a0001c0001t0044g0223 a0001c0002t0001g0178 a0001c0002t0001g0199 a0001c0002t0002g0060 a0001c0002t0002g0083 a0001c0002t0002g0094 a0001c0002t0035g0177 a0001c0004t0002g0071 a0002c0003t0001g0028	238	390	0.6103	-19	c.-53 others(28): Show c.-536_-518delAGCGCGGGGGGCGGGGGAC		DUSP4	ENSG00000120875.9	transcript	ENST00000240100.7	protein_coding					112		chr8	TogoVar
DUXA_chr19_57149021_57172485	57172052	CGGGGGCG others(12): Show CGGGGGCGTGCGAGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01358.hp2 HG02015.hp1 others(11): Show HG01257.hp2 HG01358.hp2 HG02015.hp1 HG02258.hp1 HG02280.hp2 HG02886.hp1 HG03654.hp1 NA18955.hp2 NA18991.hp2 NA19011.hp1 NA19057.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0002g0023 a0001c0001t0002g0056 a0001c0001t0002g0141 a0001c0001t0002g0202	14	359	0.0390	-19	c.-46 others(30): Show c.-4628_-4610delCGCCCCCTCGCACGCCCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4568		chr19	TogoVar
DYM_chr18_49031387_49465645	49393040	AGGAGGAG others(12): Show AGGAGGAGGAGGGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	288	0.0035	-19	c.141 others(36): Show c.141-1414_141-1396delCCTCCTCCCCTCCTCCTCC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17						chr18	TogoVar
DYNC2H1_chr11_103104426_103484863	103419591	AACAATAT others(12): Show AACAATATTTAAAATAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	260	0.0038	-19	c.123 others(42): Show c.12367-16349_12367-16331delAATATTTAAAATAAAAGAC		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	84/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453634	ATATATAT others(12): Show ATATATATACACACATTCAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0005 a0032c0037t0005	a0032c0037t0005g0030 a0032c0037t0005g0030	1	260	0.0038	-19	c.124 others(40): Show c.12457-1549_12457-1531delTATATACACACATTCATTA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103474674	TTGTGGTA others(12): Show TTGTGGTATTGTTACAATTA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0005 a0032c0037t0005	a0032c0037t0005g0030 a0032c0037t0005g0030	1	260	0.0038	-19	c.127 others(40): Show c.12766-4419_12766-4401delGTGGTATTGTTACAATTAT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	88/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2LI1_chr2_43769039_43815010	43785905	GTGAATAA others(12): Show GTGAATAAATTTAATACTAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG02976.hp1 others(3): Show HG01884.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp1 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0032 a0004c0004t0002g0033 a0004c0004t0002g0034 others(3): Show a0004c0004t0002g0032 a0004c0004t0002g0033 a0004c0004t0002g0034 a0004c0004t0002g0035 a0004c0004t0002g0036 a0004c0004t0002g0046	6	292	0.0205	-19	c.162 others(36): Show c.162-1270_162-1252delAAATTTAATACTACTGAAT		DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLL2_chr17_58078419_58100542	58084211	ATGCTTCC others(12): Show ATGCTTCCTCGTTCCCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	304	0.0066	-19	c.-10 others(34): Show c.-10+533_-10+551delTCCTCGTTCCCCAGGTGCT		DYNLL2	ENSG00000264364.3	transcript	ENST00000579991.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
DYRK1A_chr21_37361773_37531358	37479594	GTTTTTGT others(12): Show GTTTTTGTTTTTGTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02818.hp2 others(2): Show HG02257.hp2 HG02258.hp2 HG02818.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0049 a0001c0001t0138 others(2): Show a0001c0001t0048 a0001c0001t0049 a0001c0001t0138 a0001c0001t0142 a0001c0001t0143	a0001c0001t0048g0272 a0001c0001t0049g0271 a0001c0001t0138g0323 others(2): Show a0001c0001t0048g0272 a0001c0001t0049g0271 a0001c0001t0138g0323 a0001c0001t0142g0324 a0001c0001t0143g0322	5	346	0.0145	-19	c.301 others(36): Show c.301-1032_301-1014delGTTTTTGTTTTTTGTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71520520	TTCCATTC others(12): Show TTCCATTCTGATCTGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0128 a0001c0012t0001g0128	1	190	0.0053	-19	c.938 others(34): Show c.938-267_938-249delCCATTCTGATCTGGTCACT		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	10/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71560674	GCGGCGGT others(12): Show GCGGCGGTGCCGCTGCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0008 a0001c0052t0001g0008	1	190	0.0053	-19	c.216 others(38): Show c.2163-1070_2163-1052delGCCGCTGCGCTCCGGCGGT		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71520520	TTCCATTC others(12): Show TTCCATTCTGATCTGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0057 a0001c0013t0001g0057	1	206	0.0049	-19	c.103 others(36): Show c.1034-267_1034-249delCCATTCTGATCTGGTCACT		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	11/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71560674	GCGGCGGT others(12): Show GCGGCGGTGCCGCTGCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0206 a0001c0053t0001g0206	1	206	0.0049	-19	c.221 others(38): Show c.2217-1070_2217-1052delGCCGCTGCGCTCCGGCGGT		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP1_chr13_95573202_95649706	95603306	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	80	0.0125	-19	c.147 others(38): Show c.1477+2678_1477+2696delTTTTTTTTTTTTTTTTTTT		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	14/22						chr13	TogoVar
E2F2_chr1_23501438_23536233	23520243	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18987.hp2 NA19083.hp2 NA18942.hp1 NA18987.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224	3	27	0.1111	-19	c.737 others(34): Show c.737+651_737+669delTTTTTTTTTTTTTTTTTTT		E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	4/6						chr1	TogoVar
E2F3_chr6_20396879_20498714	20462859	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03942.hp2 HG04228.hp1 HG02129.hp2 HG03942.hp2 HG04228.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0005c0005t0004 a0001c0001t0001 a0005c0005t0001 a0005c0005t0004	a0001c0001t0001g0237 a0005c0005t0001g0147 a0005c0005t0004g0178 a0001c0001t0001g0237 a0005c0005t0001g0147 a0005c0005t0004g0178	3	22	0.1364	-19	c.394 others(38): Show c.394-16968_394-16950delTTTTTTTTTTTTTTTTTTT		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F5_chr8_85172154_85219518	85178817	GAAGTAGA others(12): Show GAAGTAGATCTTTTCAGTGC	G G	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	334	0.0030	-19	c.234 others(36): Show c.234+1164_234+1182delAAGTAGATCTTTTCAGTGC		E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7						chr8	TogoVar
EAF2_chr3_121830209_121891526	121841504	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18959.hp2 NA18994.hp1 NA18946.hp1 NA18959.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0078 a0001c0002t0001g0152 a0001c0002t0001g0153	3	192	0.0156	-19	c.107 others(36): Show c.107-2928_107-2910delAAAAAAAAAAAAAAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121841525	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG02622.hp1 others(1): Show HG01074.hp1 HG02615.hp1 HG02622.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	4	316	0.0127	-19	c.107 others(36): Show c.107-2924_107-2906delAAAAAAAAAAAAAAAGAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF1_chr5_158690920_159104916	158840654	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	196	0.0051	-19	c.555 others(34): Show c.555-563_555-545delCAAAAAAAAAAAAAAAAAA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	159006647	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp2 others(1): Show HG00140.hp2 HG00639.hp1 HG00735.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0141 a0001c0002t0001g0158 others(1): Show a0001c0002t0001g0109 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0161	4	19	0.2105	-19	c.554 others(38): Show c.554+66730_554+66748delTTTTTTTTTTTTTTTTTTT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	25950099	TATAAACC others(12): Show TATAAACCATGGCCACCTTA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18953.hp2 NA18947.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0124 a0001c0001t0002g0125	2	218	0.0092	-19	c.552 others(38): Show c.552-41563_552-41545delTAAGGTGGCCATGGTTTAT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
ECE2_chr3_184271022_184298031	184274771	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01192.hp2 HG01346.hp2 others(25): Show HG00558.hp1 HG01192.hp2 HG01346.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02132.hp1 HG02293.hp1 NA18612.hp1 NA18747.hp2 NA18948.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18998.hp2 NA19004.hp2 NA19007.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0131 others(14): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0002g0037 a0001c0002t0002g0136 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0008g0133	28	395	0.0709	-19	c.-13 others(30): Show c.-1382_-1364delAAAGAAAGAAAGAAAGAGA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding					1250		chr3	TogoVar
ECI1_chr16_2234402_2256587	2243081	GCAGTGCT others(12): Show GCAGTGCTCTGCACCTGCTC	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0105 a0009c0011t0001g0105	1	434	0.0023	-19	c.688 others(26): Show c.688_706delGAGCAGGTGCAGAGCACTG	p.Glu others(5): Show p.Glu230fs	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	6/7	727/1507	688/909	230/302			chr16	TogoVar
EDA_chrX_69611113_70044472	69612321	ATTTTATT others(12): Show ATTTTATTTTATTTTATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	226	0.0044	-19	c.-39 others(30): Show c.-3987_-3969delTTTTATTTTATTTTATTTT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding					3791		chrX	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02129.hp1 others(7): Show HG01243.hp1 HG01255.hp1 HG02129.hp1 HG02145.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0138 a0001c0001t0001g0141 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0003g0175 a0001c0001t0004g0137 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0179	10	13	0.7692	-19	c.397 others(40): Show c.397-146742_397-146724delAAAAAAAAAAAAAAAAAAA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69978318	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03195.hp2 HG01081.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0174 a0001c0001t0004g0199 a0001c0001t0001g0174 a0001c0001t0004g0199	2	38	0.0526	-19	c.502 others(38): Show c.502+21203_502+21221delAAAAAAAAAAAAAAAAAAA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDN1_chr6_12285361_12302194	12288509	GGAGGCCA others(12): Show GGAGGCCAGGGGCCCCGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG01891.hp2 others(24): Show HG00735.hp2 HG01243.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0003	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0062 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0003g0023 a0001c0001t0003g0035 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0096 a0001c0003t0001g0037 a0001c0003t0001g0112 a0002c0002t0003g0015	27	450	0.0600	-19	c.-21 others(30): Show c.-2120_-2102delGAGGCCAGGGGCCCCGGCA		EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding					1851		chr6	TogoVar
EEA1_chr12_92765637_92934295	92867062	CCAGAGGA others(12): Show CCAGAGGAATCTTTCTAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(20): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01433.hp2 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 NA18747.hp1 NA18906.hp2 NA19004.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0003 a0001c0002t0045 a0003c0005t0003 others(1): Show a0001c0002t0003 a0001c0002t0045 a0003c0005t0003 a0003c0005t0042	a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 others(20): Show a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0045g0038 a0003c0005t0003g0021 a0003c0005t0003g0022 a0003c0005t0003g0023 a0003c0005t0003g0032 a0003c0005t0003g0033 a0003c0005t0003g0034 a0003c0005t0003g0035 a0003c0005t0003g0036 a0003c0005t0003g0239 a0003c0005t0042g0039	23	242	0.0950	-19	c.118 others(36): Show c.118-2094_118-2076delTTTTAGAAAGATTCCTCTG		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92869752	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02258.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0054 a0001c0001t0001 a0001c0001t0013 a0001c0001t0054	a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0013g0071 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0013g0071 a0001c0001t0013g0093 a0001c0001t0013g0140 a0001c0001t0054g0072	6	21	0.2857	-19	c.118 others(36): Show c.118-4784_118-4766delTTTTTTTTTTTTTTTTTTT		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92886560	AGGGAGGG others(12): Show AGGGAGGGGAGAGAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02451.hp2 others(2): Show HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG03486.hp1	a0002 a0009 a0002 a0009	a0002c0004 a0009c0014 a0002c0004 a0009c0014	a0002c0004t0018 a0002c0004t0041 a0009c0014t0006 a0002c0004t0018 a0002c0004t0041 a0009c0014t0006	a0002c0004t0018g0202 a0002c0004t0018g0210 a0002c0004t0018g0212 others(2): Show a0002c0004t0018g0202 a0002c0004t0018g0210 a0002c0004t0018g0212 a0002c0004t0041g0201 a0009c0014t0006g0204	5	242	0.0207	-19	c.117 others(36): Show c.117+5050_117+5068delCTCCCTTCTCTCCCCTCCC		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92895133	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02896.hp2 others(3): Show HG02630.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0001c0002t0040 a0002c0004t0014 a0001c0002t0003 a0001c0002t0040 a0002c0004t0014	a0001c0002t0003g0024 a0001c0002t0040g0224 a0002c0004t0014g0240 others(3): Show a0001c0002t0003g0024 a0001c0002t0040g0224 a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 a0002c0004t0014g0243	6	10	0.6000	-19	c.25- others(34): Show c.25-3431_25-3413delAAAAAAAAAAAAAAAAAAA		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92931602	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	132	0.0076	-19	c.-25 others(30): Show c.-2555_-2537delAAAAAAAAAAAAAAAAAAA		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding					2308		chr12	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57770001	GGAAGTGC others(12): Show GGAAGTGCAAAGGGGTCAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	360	0.0028	-19	c.-27 others(30): Show c.-2723_-2705delGAAGTGCAAAGGGGTCAAC		EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding					2612		chr12	TogoVar
EEF1B2_chr2_206154895_206167928	206163742	GTTCTCAT others(12): Show GTTCTCATGCTGCAGGTAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	358	0.0028	-19	c.86 others(28): Show c.860_*878delTTCTCATGCTGCAGGTAAA		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					815		chr2	TogoVar
EEF1B2_chr2_206154895_206167928	206166304	TCTCAGAA others(12): Show TCTCAGAAGGCACTGGTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	-19	c.34 others(30): Show c.3422_*3440delCTCAGAAGGCACTGGTTTC		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					3377		chr2	TogoVar
EEF1B2_chr2_206154895_206167928	206166564	CAGCCTAC others(12): Show CAGCCTACTGAGTAGCTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	-19	c.36 others(30): Show c.3682_*3700delAGCCTACTGAGTAGCTGGG		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					3637		chr2	TogoVar
EEF1B2_chr2_206154895_206167928	206167784	ACAGTTTA others(12): Show ACAGTTTAATCCTATTTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	-19	c.49 others(30): Show c.4902_*4920delCAGTTTAATCCTATTTCAT		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					4857		chr2	TogoVar
EEF1E1_chr6_8074395_8107548	8101236	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	440	0.0045	-19	c.87+ others(34): Show c.87+1180_87+1198delATATATATATATTTTTTTT		EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3						chr6	TogoVar
EEPD1_chr7_36148254_36306538	36304368	ACGTGCTC others(12): Show ACGTGCTCATGTGTGCACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0040 a0003c0002t0040	a0003c0002t0040g0041 a0003c0002t0040g0041	1	344	0.0029	-19	c.51 others(30): Show c.5163_*5181delCGTGCTCATGTGTGCACAC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding					2831		chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570229	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02723.hp1 HG02055.hp2 HG02572.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0235 a0001c0001t0001g0036 a0001c0001t0001g0235	3	426	0.0070	-19	c.107 others(34): Show c.107-677_107-659delATATATATTTTTTTTTTTT		EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4						chr7	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG01099.hp1 HG01167.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	9	41	0.2195	-19	c.25+ others(34): Show c.25+9608_25+9626delAAAAAAAAAAAAAAAAAAA		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG02486.hp1 others(10): Show HG01433.hp1 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp2 NA18906.hp1 NA18964.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0006 others(1): Show a0002c0002 a0003c0003 a0003c0006 a0003c0013	a0002c0002t0002 a0003c0003t0002 a0003c0006t0002 others(1): Show a0002c0002t0002 a0003c0003t0002 a0003c0006t0002 a0003c0013t0002	a0002c0002t0002g0013 a0003c0003t0002g0129 a0003c0003t0002g0130 others(10): Show a0002c0002t0002g0013 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0139 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 a0003c0013t0002g0217	13	31	0.4194	-19	c.104 others(38): Show c.1045-7244_1045-7226delTTTTTTTTTTTTTTTTTTT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097042	ACATATAC others(12): Show ACATATACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(11): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG02132.hp1 HG02280.hp2 HG02895.hp2 HG02976.hp2 HG03139.hp2 HG03453.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0005 a0002c0017 others(3): Show a0001c0001 a0002c0005 a0002c0017 a0003c0003 a0003c0006 a0007c0009	a0001c0001t0001 a0002c0005t0002 a0002c0017t0002 others(3): Show a0001c0001t0001 a0002c0005t0002 a0002c0017t0002 a0003c0003t0002 a0003c0006t0002 a0007c0009t0002	a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 others(11): Show a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0182 a0002c0005t0002g0025 a0002c0017t0002g0035 a0003c0003t0002g0144 a0003c0006t0002g0003 a0003c0006t0002g0004 a0007c0009t0002g0103	14	246	0.0569	-19	c.432 others(38): Show c.4321+4107_4321+4125delCATATACATATATATATAT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22						chr17	TogoVar

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