Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CELF2_chr10_11012872_11341675	11025239	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03704.hp1 HG00558.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	194	0.0103	16	c.74+ others(31): Show c.74+7081_74+7082insATATATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(36): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG01099.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02109.hp2 HG02273.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG03098.hp2 HG03486.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18983.hp1 NA18983.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0015 a0001c0003t0038 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0009t0006 a0001c0010t0015 a0002c0007t0037	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 others(36): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0004g0138 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0127 a0001c0001t0017g0153 a0001c0001t0034g0162 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0002g0128 a0001c0002t0002g0140 a0001c0002t0002g0170 a0001c0002t0002g0193 a0001c0002t0004g0120 a0001c0002t0018g0135 a0001c0003t0001g0133 a0001c0003t0003g0137 a0001c0003t0004g0130 a0001c0003t0008g0129 a0001c0003t0015g0132 a0001c0003t0038g0131 a0001c0004t0001g0113 a0001c0004t0001g0124 a0001c0004t0011g0122 a0001c0005t0001g0163 a0001c0009t0006g0125 a0001c0010t0015g0159 a0002c0007t0037g0164	39	194	0.2010	16	c.74+ others(31): Show c.74+7077_74+7078insGTATATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp1 NA18522.hp1 others(1): Show HG00741.hp1 HG02809.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0002t0009 a0001c0006t0020 others(1): Show a0001c0002t0004 a0001c0002t0009 a0001c0006t0020 a0001c0006t0042	a0001c0002t0004g0147 a0001c0002t0009g0148 a0001c0006t0020g0191 others(1): Show a0001c0002t0004g0147 a0001c0002t0009g0148 a0001c0006t0020g0191 a0001c0006t0042g0190	4	194	0.0206	16	c.74+ others(31): Show c.74+7077_74+7078insGTGTATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11032146	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01074.hp2 others(1): Show HG00280.hp1 HG00639.hp1 HG01074.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0003t0016	a0001c0001t0021g0089 a0001c0002t0002g0101 a0001c0002t0003g0165 others(1): Show a0001c0001t0021g0089 a0001c0002t0002g0101 a0001c0002t0003g0165 a0001c0003t0016g0003	4	194	0.0206	16	c.74+ others(33): Show c.74+13993_74+14008dupAAAAAAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11086578	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0013 a0001c0011t0048g0013	1	194	0.0052	16	c.74+ others(33): Show c.74+68432_74+68447dupAAAAAAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11103487	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0042 a0001c0006t0042	a0001c0006t0042g0190 a0001c0006t0042g0190	1	194	0.0052	16	c.75- others(33): Show c.75-61994_75-61979dupTTTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11148843	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02602.hp1 HG01891.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0046 a0001c0004t0001 a0001c0001t0046 a0001c0004t0001	a0001c0001t0046g0069 a0001c0004t0001g0098 a0001c0001t0046g0069 a0001c0004t0001g0098	2	194	0.0103	16	c.75- others(33): Show c.75-16627_75-16612dupCACACACACACACACA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01257.hp2 others(7): Show HG00323.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG04228.hp2 NA18612.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0001c0002t0029 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0005t0053 a0002c0007t0037	a0001c0001t0001g0121 a0001c0002t0001g0154 a0001c0002t0015g0143 others(7): Show a0001c0001t0001g0121 a0001c0002t0001g0154 a0001c0002t0015g0143 a0001c0002t0029g0106 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0008g0129 a0001c0004t0001g0113 a0001c0005t0053g0185 a0002c0007t0037g0164	10	194	0.0516	16	c.272 others(35): Show c.272-20380_272-20365dupGAAAGAAAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11226600	C C	CCACACAA others(9): Show CCACACAAACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03453.hp1 HG02055.hp2 HG02451.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0001 a0001c0004t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0003	a0001c0003t0004g0024 a0001c0004t0001g0023 a0001c0004t0003g0025 a0001c0003t0004g0024 a0001c0004t0001g0023 a0001c0004t0003g0025	3	194	0.0155	16	c.354 others(33): Show c.354+9099_354+9100insAACACACACACACACA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG01978.hp1 others(2): Show HG00558.hp2 HG00639.hp2 HG01978.hp1 HG02300.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0034 a0001c0002t0001	a0001c0001t0001g0085 a0001c0001t0011g0080 a0001c0001t0011g0157 others(2): Show a0001c0001t0001g0085 a0001c0001t0011g0080 a0001c0001t0011g0157 a0001c0001t0034g0162 a0001c0002t0001g0107	5	194	0.0258	16	c.539 others(33): Show c.539-3646_539-3631dupTTTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696461	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01255.hp1 HG01256.hp2 others(5): Show HG00423.hp2 HG01255.hp1 HG01256.hp2 HG02109.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0045 a0001c0001t0050	a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0004g0004 others(3): Show a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0004g0004 a0001c0001t0011g0048 a0001c0001t0045g0131 a0001c0001t0050g0142	8	432	0.0185	16	c.69 others(27): Show c.6982_*6997dupGAAAGAAAGAAAGAAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3596		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696490	T T	TTTCTTTC others(9): Show TTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19009.hp2 NA18941.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	432	0.0046	16	c.69 others(27): Show c.6968_*6969insCGAAAGAACGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3567		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(9): Show TTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01515.hp1 HG02735.hp2 others(11): Show HG01433.hp2 HG01515.hp1 HG02735.hp2 NA18942.hp2 NA18949.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18998.hp2 NA19081.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0024 a0001c0001t0028 a0004c0003t0015	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0024 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0006g0037 a0001c0001t0006g0061 a0001c0001t0015g0035 a0001c0001t0024g0123 a0001c0001t0028g0057 a0004c0003t0015g0073	14	432	0.0324	16	c.69 others(27): Show c.6945_*6960dupCGAAAGAACGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02300.hp1 HG02622.hp1 others(4): Show HG02015.hp2 HG02300.hp1 HG02622.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0003g0015 a0001c0001t0006g0012 others(4): Show a0001c0001t0001g0002 a0001c0001t0003g0015 a0001c0001t0006g0012 a0001c0001t0006g0037 a0001c0001t0006g0092 a0001c0001t0008g0010 a0001c0001t0014g0143	7	432	0.0162	16	c.69 others(27): Show c.6960_*6961insCGAAAGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696505	C C	CTTTCTTT others(9): Show CTTTCTTTCGTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0114	1	432	0.0023	16	c.69 others(27): Show c.6953_*6954insAAAAGAACGAAAGAAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3552		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696522	G G	GTTCTTTC others(9): Show GTTCTTTCGTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp2 NA18906.hp1 HG02258.hp2 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0038 a0001c0001t0006g0043 a0001c0001t0006g0044	3	432	0.0069	16	c.69 others(27): Show c.6936_*6937insAGAAAGAACGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3535		chr1	TogoVar
CELF4_chr18_37238040_37570798	37247629	A A	ACACGCAC others(9): Show ACACGCACACACACACG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	184	0.0054	16	c.45 others(33): Show c.45-2448_*45-2433dupCGTGTGTGTGTGCGTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	12/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37353233	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18964.hp1 NA18983.hp2 others(4): Show HG01934.hp1 NA18964.hp1 NA18983.hp2 NA19005.hp2 NA19062.hp1 NA19068.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0005 a0001c0002t0010 a0002c0003t0002	a0001c0001t0001g0071 a0001c0001t0002g0143 a0001c0001t0002g0152 others(4): Show a0001c0001t0001g0071 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0013g0003 a0001c0002t0005g0067 a0001c0002t0010g0094 a0002c0003t0002g0074	7	184	0.0380	16	c.370 others(35): Show c.370-31353_370-31352insATATATATATATTTTT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37353233	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00639.hp2 others(4): Show HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00741.hp2 HG01258.hp2 HG03490.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0003g0053 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0003g0053 a0001c0001t0005g0105 a0001c0002t0001g0072 a0001c0002t0002g0166 a0001c0002t0022g0156	7	184	0.0380	16	c.370 others(35): Show c.370-31353_370-31352insATATATATATATATTT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37380792	A A	AATCCATC others(9): Show AATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(80): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01433.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0003c0004t0033	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0075 others(80): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0154 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0051 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0005g0091 a0001c0001t0005g0110 a0001c0001t0005g0140 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0007g0111 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0008g0112 a0001c0001t0008g0124 a0001c0001t0008g0130 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0009g0010 a0001c0001t0009g0018 a0001c0001t0012g0032 a0001c0001t0014g0035 a0001c0001t0015g0019 a0001c0001t0015g0039 a0001c0001t0016g0070 a0001c0001t0017g0040 a0001c0001t0026g0022 a0001c0001t0027g0048 a0001c0001t0028g0027 a0001c0001t0030g0011 a0001c0001t0040g0097 a0001c0001t0041g0062 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0072 a0001c0002t0001g0134 a0001c0002t0001g0147 a0001c0002t0002g0166 a0001c0002t0003g0064 a0001c0002t0003g0073 a0001c0002t0003g0163 a0001c0002t0004g0020 a0001c0002t0005g0082 a0001c0002t0005g0174 a0001c0002t0008g0119 a0001c0002t0010g0055 a0001c0002t0010g0063 a0001c0002t0012g0047 a0001c0002t0013g0013 a0001c0002t0014g0002 a0001c0002t0022g0180 a0003c0004t0033g0164	83	184	0.4511	16	c.370 others(35): Show c.370-58927_370-58912dupGGATGGATGGATGGAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444617	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02723.hp1 HG02970.hp1 others(2): Show HG01192.hp2 HG02723.hp1 HG02970.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0038 a0001c0002t0024	a0001c0001t0002g0066 a0001c0001t0004g0029 a0001c0001t0027g0048 others(2): Show a0001c0001t0002g0066 a0001c0001t0004g0029 a0001c0001t0027g0048 a0001c0001t0038g0170 a0001c0002t0024g0181	5	184	0.0272	16	c.369 others(35): Show c.369+40892_369+40907dupGTGTGTGTGTGTGTGT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444652	A A	ACACACAC others(9): Show ACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG03540.hp2 HG02451.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0014 a0001c0001t0001 a0001c0001t0006 a0001c0002t0014	a0001c0001t0001g0179 a0001c0001t0006g0017 a0001c0002t0014g0002 a0001c0001t0001g0179 a0001c0001t0006g0017 a0001c0002t0014g0002	3	184	0.0163	16	c.369 others(35): Show c.369+40872_369+40873insCGTGTGTGTGTGTGTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470890	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0014 a0001c0001t0017 a0001c0002t0014	a0001c0001t0017g0040 a0001c0002t0014g0002 a0001c0001t0017g0040 a0001c0002t0014g0002	2	184	0.0109	16	c.369 others(35): Show c.369+14619_369+14634dupCTCTCTCTCTCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37547160	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01192.hp1 others(6): Show HG00639.hp2 HG01070.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01934.hp1 HG02647.hp1 HG03834.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0002t0010 a0001c0002t0022	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0002g0143 others(6): Show a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0020g0153 a0001c0002t0001g0147 a0001c0002t0010g0138 a0001c0002t0022g0156	9	184	0.0489	16	c.286 others(35): Show c.286+18180_286+18195dupACACACACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01074.hp2 others(25): Show HG00597.hp1 HG01069.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG02055.hp1 HG02083.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18973.hp1 NA19007.hp1 NA19007.hp2 NA19067.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 a0001c0005t0004 a0001c0012t0005 a0004c0011t0002	a0001c0001t0001g0003 a0001c0001t0001g0119 a0001c0001t0001g0196 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0119 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0258 a0001c0001t0004g0129 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0005g0203 a0001c0001t0005g0208 a0001c0003t0004g0128 a0001c0005t0004g0210 a0001c0012t0005g0114 a0004c0011t0002g0192	28	262	0.1069	16	c.259 others(33): Show c.259+1463_259+1478dupCACACACACACACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235646	G G	GTGGATGG others(9): Show GTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	262	0.0038	16	c.259 others(35): Show c.259+10667_259+10682dupGATGGATGGATGGATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235789	A A	AATGGATG others(9): Show AATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0093	1	262	0.0038	16	c.259 others(35): Show c.259+10803_259+10818dupGATGGATGGATGGATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3248853	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	262	0.0038	16	c.260 others(33): Show c.260-2092_260-2077dupCCTTCCTTCCTTCCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	262	0.0038	16	c.342 others(33): Show c.342+5006_342+5007insAAAAAAAAAAAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG02273.hp2 others(7): Show HG01884.hp1 HG01928.hp1 HG02273.hp2 HG02559.hp1 HG02922.hp2 HG03098.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0169 a0001c0001t0002g0198 a0001c0001t0003g0019 others(5): Show a0001c0001t0002g0169 a0001c0001t0002g0198 a0001c0001t0003g0019 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0206	10	300	0.0333	16	c.345 others(33): Show c.345+1240_345+1255dupAAAAAAAAAAAAAAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12			chr15	TogoVar
CELF6_chr15_72279727_72325157	72325145	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02622.hp2 NA18994.hp2 HG00621.hp2 HG02622.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0174 a0001c0001t0002g0187 a0001c0001t0002g0007 a0001c0001t0002g0174 a0001c0001t0002g0187	3	300	0.0100	16	c.-52 others(27): Show c.-5272_-5271insGAAAGAAAGAAAGAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding		4989		chr15	TogoVar
CELSR1_chr22_46356174_46542620	46523527	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19030.hp2 HG01496.hp2 NA19030.hp2	a0017 a0047 a0017 a0047	a0017c0061 a0047c0056 a0017c0061 a0047c0056	a0017c0061t0002 a0047c0056t0001 a0017c0061t0002 a0047c0056t0001	a0017c0061t0002g0097 a0047c0056t0001g0092 a0017c0061t0002g0097 a0047c0056t0001g0092	2	104	0.0192	16	c.354 others(37): Show c.3544+10084_3544+10099dupATTTATTTATTTATTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71683549	C C	CACACACA others(9): Show CACACACACACACTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG02572.hp1 others(9): Show HG01978.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG03540.hp1 HG04115.hp1 NA18975.hp2 NA18992.hp2 NA19001.hp1 NA19068.hp2 NA19079.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0004c0005 a0011c0020	a0001c0001t0012 a0001c0001t0021 a0001c0001t0040 others(5): Show a0001c0001t0012 a0001c0001t0021 a0001c0001t0040 a0001c0001t0052 a0002c0002t0021 a0002c0008t0012 a0004c0005t0021 a0011c0020t0012	a0001c0001t0012g0204 a0001c0001t0012g0220 a0001c0001t0012g0239 others(9): Show a0001c0001t0012g0204 a0001c0001t0012g0220 a0001c0001t0012g0239 a0001c0001t0012g0263 a0001c0001t0012g0314 a0001c0001t0021g0203 a0001c0001t0040g0033 a0001c0001t0052g0212 a0002c0002t0021g0063 a0002c0008t0012g0086 a0004c0005t0021g0097 a0011c0020t0012g0051	12	320	0.0375	16	c.16 others(27): Show c.1647_*1648insTTGAGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1647		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71687462	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0025 a0001c0025t0025	a0001c0025t0025g0256 a0001c0025t0025g0256	1	320	0.0031	16	c.385 others(35): Show c.3852-1632_3852-1617dupCACACACACACACACA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	22/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02572.hp1 HG06807.hp2 others(3): Show HG02074.hp1 HG02572.hp1 HG06807.hp2 NA18962.hp2 NA18964.hp1 NA19057.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0016 a0001c0001 a0003c0003 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0039 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0039 a0001c0001t0040 a0003c0003t0010 a0009c0016t0017	a0001c0001t0001g0154 a0001c0001t0002g0146 a0001c0001t0039g0240 others(3): Show a0001c0001t0001g0154 a0001c0001t0002g0146 a0001c0001t0039g0240 a0001c0001t0040g0033 a0003c0003t0010g0209 a0009c0016t0017g0195	6	320	0.0188	16	c.243 others(33): Show c.2436-552_2436-537dupATATATATATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTAT others(9): Show CTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG03704.hp1 others(3): Show HG01123.hp2 HG01361.hp1 HG03704.hp1 HG03831.hp2 HG04204.hp1 NA18944.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0039 a0002c0002 a0013c0039	a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 others(1): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 a0013c0039t0016	a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0050 others(3): Show a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0014g0052 a0002c0002t0016g0049 a0013c0039t0016g0048	6	320	0.0188	16	c.204 others(35): Show c.2049+1613_2049+1614insTATATATATATAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(9): Show CTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	320	0.0031	16	c.204 others(35): Show c.2049+1613_2049+1614insTATATATATAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	320	0.0031	16	c.204 others(35): Show c.2049+1613_2049+1614insTATATATAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728241	A A	ATATATAT others(9): Show ATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0199 a0007c0010t0004g0199	1	320	0.0031	16	c.204 others(35): Show c.2049+1603_2049+1604insCGTATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71755346	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01934.hp1 others(13): Show HG00140.hp2 HG01099.hp1 HG01934.hp1 HG02074.hp2 HG02451.hp2 HG02486.hp2 HG02818.hp2 HG02896.hp2 HG03225.hp2 HG03704.hp1 NA18522.hp2 NA18906.hp2 NA18977.hp2 NA18992.hp1 NA19005.hp2 NA20805.hp1	a0002 a0007 a0011 a0002 a0007 a0011	a0002c0002 a0002c0007 a0002c0008 others(3): Show a0002c0002 a0002c0007 a0002c0008 a0007c0010 a0007c0026 a0011c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 a0002c0007t0006 a0002c0007t0008 a0002c0008t0006 a0007c0010t0004 a0007c0010t0009 a0007c0010t0028 a0007c0026t0009 a0011c0020t0003	a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0053 others(13): Show a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0071 a0002c0002t0002g0037 a0002c0002t0017g0042 a0002c0007t0006g0271 a0002c0007t0008g0270 a0002c0007t0008g0274 a0002c0008t0006g0091 a0007c0010t0004g0035 a0007c0010t0009g0045 a0007c0010t0028g0047 a0007c0026t0009g0273 a0011c0020t0003g0068	16	320	0.0500	16	c.-12 others(33): Show c.-12-4977_-12-4962dupGTGTGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756191	C C	CTAGATAG others(9): Show CTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp1 HG02922.hp1 others(1): Show HG01361.hp1 HG01934.hp1 HG02922.hp1 NA18990.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0039 a0001c0001 a0002c0002 a0013c0039	a0001c0001t0001 a0002c0002t0001 a0002c0002t0026 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0026 a0013c0039t0016	a0001c0001t0001g0309 a0002c0002t0001g0053 a0002c0002t0026g0060 others(1): Show a0001c0001t0001g0309 a0002c0002t0001g0053 a0002c0002t0026g0060 a0013c0039t0016g0048	4	320	0.0125	16	c.-12 others(33): Show c.-12-5822_-12-5807dupTCTATCTATCTATCTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71762503	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0035 a0007c0014t0035	a0007c0014t0035g0093 a0007c0014t0035g0093	1	320	0.0031	16	c.-13 others(33): Show c.-13+5838_-13+5853dupTTTTTTTTTTTTTTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80786556	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0004 a0011c0032t0004	a0011c0032t0004g0075 a0011c0032t0004g0075	1	254	0.0039	16	c.-17 others(35): Show c.-176+6966_-176+6981dupGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80800021	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG02109.hp1 others(6): Show HG01099.hp2 HG01255.hp2 HG02109.hp1 HG02572.hp1 HG03239.hp1 HG03453.hp1 HG03704.hp2 NA19065.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0006t0001 a0001c0008t0003 a0001c0010t0001	a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0002g0225 a0001c0002t0004g0139 a0001c0006t0001g0096 a0001c0008t0003g0140 a0001c0010t0001g0247	9	254	0.0354	16	c.-17 others(37): Show c.-176+20433_-176+20448dupGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80829990	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG03540.hp1 HG02717.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0005 a0001c0002t0001 a0001c0014t0001 a0001c0001t0005 a0001c0002t0001 a0001c0014t0001	a0001c0001t0005g0249 a0001c0002t0001g0251 a0001c0014t0001g0248 a0001c0001t0005g0249 a0001c0002t0001g0251 a0001c0014t0001g0248	3	254	0.0118	16	c.-17 others(37): Show c.-175-43536_-175-43535insTGTTTGTGTGTGTGTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02572.hp2 HG02809.hp1 others(2): Show HG02015.hp2 HG02572.hp2 HG02809.hp1 HG02897.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0008t0003 a0002c0004t0023	a0001c0001t0001g0201 a0001c0001t0002g0210 a0001c0003t0001g0250 others(2): Show a0001c0001t0001g0201 a0001c0001t0002g0210 a0001c0003t0001g0250 a0001c0008t0003g0073 a0002c0004t0023g0194	5	254	0.0197	16	c.-17 others(37): Show c.-175-41215_-175-41214insCTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01928.hp1 HG01975.hp1 others(9): Show HG01243.hp1 HG01928.hp1 HG01975.hp1 HG02300.hp1 HG02723.hp1 HG02976.hp1 HG03209.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18747.hp2 NA19056.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0001c0017 a0002c0004 a0010c0021	a0001c0001t0001 a0001c0001t0016 a0001c0003t0011 others(5): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0011 a0001c0007t0013 a0001c0013t0001 a0001c0017t0001 a0002c0004t0001 a0010c0021t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0067 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0179 a0001c0001t0016g0154 a0001c0003t0011g0245 a0001c0007t0013g0205 a0001c0013t0001g0232 a0001c0017t0001g0186 a0002c0004t0001g0037 a0010c0021t0001g0087	12	254	0.0472	16	c.-17 others(37): Show c.-175-41192_-175-41177dupGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02155.hp2 others(3): Show HG01243.hp1 HG02055.hp1 HG02155.hp2 HG02647.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0001c0017	a0001c0001t0001 a0001c0006t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0014t0001 a0001c0017t0001	a0001c0001t0001g0035 a0001c0001t0001g0098 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0098 a0001c0001t0001g0240 a0001c0006t0001g0231 a0001c0014t0001g0248 a0001c0017t0001g0186	6	254	0.0236	16	c.-17 others(37): Show c.-175-34222_-175-34207dupGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80848900	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02683.hp1 HG03139.hp1 others(3): Show HG01175.hp2 HG02683.hp1 HG03139.hp1 HG03453.hp2 NA19000.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0024 others(1): Show a0001c0001 a0001c0002 a0001c0024 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0024t0005 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0077 a0001c0001t0002g0219 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0077 a0001c0001t0002g0219 a0001c0002t0001g0168 a0001c0024t0005g0120 a0002c0004t0002g0223	6	254	0.0236	16	c.-17 others(37): Show c.-175-24626_-175-24611dupACACACACACACACAC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900585	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02132.hp2 HG01257.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0024 a0001c0002t0001g0173 a0001c0001t0015g0024 a0001c0002t0001g0173	2	254	0.0079	16	c.141 others(35): Show c.1411+4574_1411+4589dupGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar

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