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
CDKAL1_chr6_20529457_21237404	20613249	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0160 a0001c0002t0005g0160	1	10	0.1000	13	c.287 others(32): Show c.287-36013_287-36001dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20721725	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0088 a0001c0005t0050g0088	1	74	0.0135	13	c.372 others(32): Show c.372-17781_372-17769dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756906	T T	TCCTTCCC others(6): Show TCCTTCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp1 HG02258.hp1 others(8): Show HG01106.hp2 HG02129.hp1 HG02258.hp1 HG02723.hp2 HG02897.hp2 HG03017.hp2 HG03491.hp2 NA18983.hp1 NA19002.hp2 NA19005.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0002t0002 a0001c0002t0043 a0001c0005t0021 a0002c0007t0036	a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0002g0121 others(8): Show a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0002g0121 a0001c0001t0003g0147 a0001c0001t0006g0011 a0001c0001t0008g0117 a0001c0001t0014g0072 a0001c0002t0002g0049 a0001c0002t0043g0190 a0001c0005t0021g0026 a0002c0007t0036g0024	11	174	0.0632	13	c.469 others(30): Show c.469-1683_469-1682insCTCCTTCCCTTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0152 a0001c0001t0024g0152	1	6	0.1667	13	c.638 others(30): Show c.638+3164_638+3176dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0017 a0001c0004t0007g0017	1	23	0.0435	13	c.638 others(32): Show c.638+17792_638+17804dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848279	G G	GTTTTTTT others(6): Show GTTTTTTTGGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01109.hp2 others(36): Show HG00099.hp1 HG00673.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp1 HG01934.hp1 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA18953.hp2 NA18957.hp2 NA18978.hp1 NA18990.hp1 NA19005.hp1 NA19043.hp2 NA19082.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0041 a0001c0002t0047 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0005t0006 a0001c0006t0006 a0001c0008t0011 a0001c0012t0008 a0002c0003t0004 a0002c0003t0010 a0002c0007t0029	a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0104 others(36): Show a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0002g0139 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0003g0082 a0001c0001t0003g0166 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0006g0179 a0001c0001t0008g0016 a0001c0001t0008g0159 a0001c0001t0023g0164 a0001c0001t0024g0169 a0001c0001t0025g0021 a0001c0001t0026g0001 a0001c0001t0027g0180 a0001c0002t0001g0174 a0001c0002t0002g0090 a0001c0002t0005g0160 a0001c0002t0007g0154 a0001c0002t0007g0187 a0001c0002t0041g0012 a0001c0002t0047g0146 a0001c0004t0001g0101 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0017 a0001c0004t0018g0015 a0001c0005t0006g0085 a0001c0006t0006g0023 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0012t0008g0129 a0002c0003t0004g0132 a0002c0003t0010g0134 a0002c0007t0029g0014	39	184	0.2120	13	c.742 others(30): Show c.742+2108_742+2109insGGTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848283	T T	TTTTGGTT others(6): Show TTTTGGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(75): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA19002.hp2 NA19007.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0033 a0001c0002t0040 a0001c0002t0043 a0001c0002t0045 a0001c0005t0001 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0008t0004 a0001c0008t0011 a0001c0009t0004 a0001c0010t0002 a0001c0010t0017 a0001c0011t0004 a0002c0003t0003 a0002c0003t0005 a0002c0007t0030 a0002c0007t0036	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0002g0036 a0001c0001t0002g0121 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0003g0147 a0001c0001t0003g0162 a0001c0001t0005g0189 a0001c0001t0006g0011 a0001c0001t0008g0054 a0001c0001t0008g0117 a0001c0001t0010g0051 a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0017g0115 a0001c0001t0019g0145 a0001c0001t0019g0148 a0001c0001t0021g0177 a0001c0001t0023g0119 a0001c0001t0024g0152 a0001c0001t0026g0058 a0001c0001t0027g0124 a0001c0001t0035g0161 a0001c0001t0042g0142 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0001g0108 a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0002g0195 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0140 a0001c0002t0003g0156 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0005g0175 a0001c0002t0008g0040 a0001c0002t0012g0076 a0001c0002t0012g0151 a0001c0002t0013g0114 a0001c0002t0013g0122 a0001c0002t0020g0120 a0001c0002t0033g0193 a0001c0002t0040g0125 a0001c0002t0043g0190 a0001c0002t0045g0153 a0001c0005t0001g0009 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0002g0157 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0113 a0001c0008t0004g0105 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0002g0106 a0001c0010t0017g0194 a0001c0011t0004g0130 a0002c0003t0003g0107 a0002c0003t0005g0112 a0002c0007t0030g0025 a0002c0007t0036g0024	78	194	0.4021	13	c.742 others(30): Show c.742+2108_742+2109insGGTTTTTTTGTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21072554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02818.hp2 others(1): Show HG02647.hp1 HG02723.hp1 HG02818.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0004 a0001c0001t0026 a0001c0002t0007 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0002t0007 a0001c0008t0011	a0001c0001t0004g0002 a0001c0001t0026g0001 a0001c0002t0007g0187 others(1): Show a0001c0001t0004g0002 a0001c0001t0026g0001 a0001c0002t0007g0187 a0001c0008t0011g0068	4	45	0.0889	13	c.123 others(32): Show c.1236+7340_1236+7352dupAAAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50358636	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp2 HG02109.hp2 HG01109.hp2 HG01943.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0043 a0001c0001t0125 a0001c0001t0023 a0001c0001t0043 a0001c0001t0125	a0001c0001t0023g0274 a0001c0001t0043g0273 a0001c0001t0125g0263 a0001c0001t0023g0274 a0001c0001t0043g0273 a0001c0001t0125g0263	3	110	0.0273	13	c.290 others(28): Show c.290+379_290+391dupAAAAAAAAAAAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(6): Show CTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02145.hp1 HG02622.hp2 others(6): Show HG00733.hp2 HG02145.hp1 HG02622.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0035 a0001c0001t0043 others(6): Show a0001c0001t0002 a0001c0001t0035 a0001c0001t0043 a0001c0001t0046 a0001c0001t0087 a0001c0001t0090 a0001c0001t0097 a0001c0001t0112 a0002c0002t0042	a0001c0001t0002g0211 a0001c0001t0035g0227 a0001c0001t0043g0292 others(6): Show a0001c0001t0002g0211 a0001c0001t0035g0227 a0001c0001t0043g0292 a0001c0001t0046g0104 a0001c0001t0087g0069 a0001c0001t0090g0063 a0001c0001t0097g0166 a0001c0001t0112g0172 a0002c0002t0042g0282	9	173	0.0520	13	c.168 others(32): Show c.168+14898_168+14899insAAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL5_chrX_18420608_18645196	18435071	G G	GAACAACT others(6): Show GAACAACTTACTGA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	190	0.0053	13	c.-16 others(32): Show c.-163+9377_-163+9389dupAACAACTTACTGA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0115 a0001c0001t0015g0115	1	54	0.0185	13	c.249 others(32): Show c.2496+1414_2496+1415insTCTCTCTCTCTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17			chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681271	T T	TCTCTCTT others(6): Show TCTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG04115.hp2 others(2): Show HG02071.hp1 HG02132.hp2 HG04115.hp2 NA18970.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0001c0001t0001 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0199 a0001c0001t0001g0278 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0199 a0001c0001t0001g0278 a0001c0001t0011g0248 a0002c0002t0002g0108	5	452	0.0111	13	c.-6+ others(28): Show c.-6+2475_-6+2476insCTCTTTCTTTCCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681332	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	390	0.0026	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(6): Show TTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	155	0.0065	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681335	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	451	0.0022	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTTCTTTC	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2			chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681351	T T	TTTCTTTT others(6): Show TTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03927.hp2 HG02071.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0270 a0001c0001t0011g0248 a0001c0001t0001g0270 a0001c0001t0011g0248	2	452	0.0044	13	c.-6+ others(28): Show c.-6+2555_-6+2556insCTTTTTCTTTCTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681360	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02976.hp2 others(2): Show HG02451.hp1 HG02559.hp1 HG02976.hp2 HG06807.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0006 a0004c0010t0001 a0001c0001t0001 a0001c0001t0006 a0004c0010t0001	a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0001t0006g0242 others(2): Show a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0001t0006g0242 a0001c0001t0006g0243 a0004c0010t0001g0226	5	429	0.0117	13	c.-6+ others(28): Show c.-6+2565_-6+2566insCTTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681361	T T	TTTCTTTC others(6): Show TTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	330	0.0030	13	c.-6+ others(28): Show c.-6+2565_-6+2566insCTTTCTTTTTCTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12723287	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02293.hp2 HG03098.hp1 others(10): Show HG01109.hp1 HG02293.hp2 HG03098.hp1 HG03834.hp2 NA18963.hp1 NA18991.hp1 NA19007.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp2 NA19074.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0003t0003 a0001c0003t0004 a0002c0002t0004	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0005 others(5): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0008g0005 a0001c0003t0003g0005 a0001c0003t0004g0005 a0002c0002t0004g0033	13	220	0.0591	13	c.22 others(24): Show c.2260_*2261insTTTTTTTTTTTTT	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding		919		chr12	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02896.hp1 others(7): Show HG00733.hp2 HG01361.hp2 HG02896.hp1 HG03098.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 NA18971.hp1 NA19004.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0005t0003	a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0002g0111 a0001c0001t0003g0007 a0004c0005t0003g0076	10	76	0.1316	13	c.151 others(28): Show c.151-380_151-368dupAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02896.hp1 others(7): Show HG00733.hp2 HG01361.hp2 HG02896.hp1 HG03098.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 NA18971.hp1 NA19004.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0362 others(6): Show a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0362 a0001c0001t0002g0299 a0001c0001t0003g0006 a0001c0001t0003g0060 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0010g0235	10	71	0.1408	13	c.194 others(28): Show c.194-380_194-368dupAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	377	0.0027	13	c.193 others(30): Show c.193+3487_193+3488insCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01975.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG01975.hp2 HG02145.hp2 NA18948.hp1 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	7	15	0.4667	13	c.-18 others(24): Show c.-1895_-1894insTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDO1_chr5_115799733_115821659	115804617	C C	CAACAAAA others(6): Show CAACAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	131	0.0076	13	c.81 others(22): Show c.815_*816insTTTTTTTTTTGTT	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding		115		chr5	TogoVar
CDON_chr11_125951821_126067866	125958592	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0072 a0001c0001t0058g0072	1	332	0.0030	13	c.23 others(24): Show c.2349_*2350insCACACACACACAC	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2349		chr11	TogoVar
CDON_chr11_125951821_126067866	125971411	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02630.hp1 others(4): Show HG01123.hp2 HG01884.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp2	a0002 a0009 a0023 a0002 a0009 a0023	a0002c0014 a0009c0016 a0023c0050 a0002c0014 a0009c0016 a0023c0050	a0002c0014t0012 a0002c0014t0027 a0009c0016t0034 others(3): Show a0002c0014t0012 a0002c0014t0027 a0009c0016t0034 a0009c0016t0071 a0009c0016t0104 a0023c0050t0057	a0002c0014t0012g0013 a0002c0014t0027g0131 a0009c0016t0034g0267 others(4): Show a0002c0014t0012g0013 a0002c0014t0027g0131 a0009c0016t0034g0267 a0009c0016t0034g0275 a0009c0016t0071g0132 a0009c0016t0104g0319 a0023c0050t0057g0031	7	326	0.0215	13	c.335 others(32): Show c.3356+6892_3356+6893insTATTTATTTATTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125973018	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp1 HG02896.hp1 others(6): Show HG01496.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 NA18942.hp2 NA18951.hp1 NA18957.hp1 NA19003.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0022 a0024	a0001c0004 a0002c0002 a0002c0013 others(4): Show a0001c0004 a0002c0002 a0002c0013 a0004c0026 a0013c0060 a0022c0057 a0024c0036	a0001c0004t0003 a0001c0004t0032 a0002c0002t0009 others(6): Show a0001c0004t0003 a0001c0004t0032 a0002c0002t0009 a0002c0002t0066 a0002c0013t0010 a0004c0026t0003 a0013c0060t0017 a0022c0057t0103 a0024c0036t0026	a0001c0004t0003g0169 a0001c0004t0032g0051 a0002c0002t0009g0284 others(6): Show a0001c0004t0003g0169 a0001c0004t0032g0051 a0002c0002t0009g0284 a0002c0002t0066g0010 a0002c0013t0010g0222 a0004c0026t0003g0229 a0013c0060t0017g0038 a0022c0057t0103g0321 a0024c0036t0026g0144	9	37	0.2432	13	c.335 others(32): Show c.3356+5273_3356+5285dupAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125981970	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0110 a0009c0016t0110	a0009c0016t0110g0327 a0009c0016t0110g0327	1	24	0.0417	13	c.299 others(30): Show c.2996-654_2996-642dupAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126003822	A A	AAAAAATA others(6): Show AAAAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02698.hp1 HG03491.hp2 HG02622.hp1 HG02698.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0012 a0001c0009 a0002c0012	a0001c0009t0039 a0002c0012t0040 a0002c0012t0076 a0001c0009t0039 a0002c0012t0040 a0002c0012t0076	a0001c0009t0039g0136 a0002c0012t0040g0214 a0002c0012t0076g0253 a0001c0009t0039g0136 a0002c0012t0040g0214 a0002c0012t0076g0253	3	332	0.0090	13	c.202 others(28): Show c.2026+79_2026+80insATAATTTATTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	10/19			chr11	TogoVar
CDR2L_chr17_74982632_75010800	74989410	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	2	0.5000	13	c.79+ others(28): Show c.79+1288_79+1289insCACACACACACAC	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4			chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01891.hp1 HG01256.hp2 HG01258.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0006g0049 a0001c0001t0001g0002 a0001c0001t0006g0049	3	8	0.3750	13	c.20 others(24): Show c.2024_*2025insTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDS1_chr4_84578127_84656334	84601172	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	133	0.0075	13	c.118 others(30): Show c.118-3068_118-3056dupAAAAAAAAAAAAA	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5135446	C C	CTGTTTGT others(6): Show CTGTTTGTGTGTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03516.hp1 HG02280.hp2 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0033 a0001c0001t0023g0302 a0001c0001t0023g0303 a0001c0001t0001g0033 a0001c0001t0023g0302 a0001c0001t0023g0303	3	346	0.0087	13	c.57+ others(28): Show c.57+8299_57+8311dupGTTTGTGTGTCAT	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDS2_chr20_5122008_5202887	5145822	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01071.hp2 others(19): Show HG00099.hp1 HG00408.hp1 HG01071.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG02135.hp2 HG02258.hp1 HG02615.hp2 HG03017.hp1 HG03239.hp2 NA18942.hp2 NA18944.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18980.hp1 NA18987.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0017 others(4): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0017 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0002t0054	a0001c0002t0004g0066 a0001c0002t0004g0090 a0001c0002t0004g0111 others(19): Show a0001c0002t0004g0066 a0001c0002t0004g0090 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0002t0004g0239 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0010g0110 a0001c0002t0010g0210 a0001c0002t0010g0291 a0001c0002t0017g0043 a0001c0002t0017g0048 a0001c0002t0049g0235 a0001c0002t0050g0234 a0001c0002t0052g0331 a0001c0002t0054g0233	22	186	0.1183	13	c.57+ others(30): Show c.57+18673_57+18674insGTTTTTTTTTTTT	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12			chr20	TogoVar
CDSN_chr6_31110087_31125446	31118837	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	2	292	0.0068	13	c.86- others(28): Show c.86-1309_86-1308insAAAAAAAAAAAAA	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding	1/1			chr6	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00733.hp2 others(38): Show HG00438.hp1 HG00597.hp1 HG00733.hp2 HG00738.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19079.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0002g0074 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0004g0025 a0001c0001t0004g0094	41	134	0.3060	13	c.317 others(30): Show c.317+1737_317+1749dupTTTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDV3_chr3_133568686_133595261	133594387	T T	TCCATGGT others(6): Show TCCATGGTTCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	13	c.63 others(24): Show c.6341_*6342insCCATGGTTCTCAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4127		chr3	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp1 others(8): Show HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01167.hp1 HG02004.hp1 HG03579.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020	a0001c0001t0002g0060 a0001c0001t0003g0005 a0001c0001t0003g0008 others(6): Show a0001c0001t0002g0060 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0020 a0001c0001t0003g0092 a0001c0001t0013g0055 a0001c0001t0019g0003 a0001c0001t0020g0006	11	20	0.5500	13	c.63 others(24): Show c.6387_*6388insAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL_chr6_4771404_4960544	4959971	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02723.hp2 others(4): Show HG01109.hp1 HG02572.hp1 HG02723.hp2 HG03490.hp2 HG03492.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0076 others(4): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0076 a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0005t0002g0162 a0001c0005t0002g0166	7	26	0.2692	13	c.59 others(24): Show c.5915_*5916insAAAAAAAAAAAAA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding		4428		chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668129	T T	TTTATATA others(6): Show TTTATATAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	361	0.0028	13	c.-38 others(24): Show c.-3803_-3802insTTATATAATATAA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3352		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTTCTTT others(6): Show TTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03471.hp1 HG03490.hp1 others(2): Show HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp2	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0002 a0005c0005 a0009c0007 a0002c0002 a0005c0005 a0009c0007	a0002c0002t0001 a0005c0005t0001 a0009c0007t0001 a0002c0002t0001 a0005c0005t0001 a0009c0007t0001	a0002c0002t0001g0003 a0002c0002t0001g0038 a0002c0002t0001g0238 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0038 a0002c0002t0001g0238 a0005c0005t0001g0232 a0009c0007t0001g0066	5	285	0.0175	13	c.52+ others(28): Show c.52+1287_52+1299dupGGAAAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41728786	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0055 a0005c0005t0006g0055	1	200	0.0050	13	c.37 others(28): Show c.37-391_*37-379dupAAAAAAAAAAAAA	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581918	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	247	0.0081	13	c.41 others(28): Show c.41-566_*41-565insATATATATATATA	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18982.hp1 NA18906.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0001 a0001c0001t0001g0022	2	65	0.0308	13	c.41 others(28): Show c.41-568_*41-567insATATATATATATT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42584202	T T	TACACACA others(6): Show TACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0116 a0003c0003t0005g0116	1	290	0.0034	13	c.959 others(28): Show c.959-866_959-865insTGTGTGTGTGTGT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	4/5			chr19	TogoVar
CECR2_chr22_17364460_17563151	17404364	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01258.hp2 HG02257.hp1 others(7): Show HG00673.hp1 HG01258.hp2 HG02257.hp1 HG02818.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp2 NA18906.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0015	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007 a0015c0018	a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 others(7): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0057 a0002c0002t0003 a0002c0002t0011 a0003c0003t0006 a0005c0007t0007 a0015c0018t0002	a0001c0001t0013g0309 a0001c0001t0014g0048 a0001c0001t0019g0297 others(7): Show a0001c0001t0013g0309 a0001c0001t0014g0048 a0001c0001t0019g0297 a0001c0001t0028g0287 a0001c0001t0057g0129 a0002c0002t0003g0062 a0002c0002t0011g0281 a0003c0003t0006g0183 a0005c0007t0007g0277 a0015c0018t0002g0112	10	223	0.0448	13	c.126 others(32): Show c.126+34458_126+34459insTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428798	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03942.hp2 HG01433.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0207 a0001c0001t0001g0063 a0001c0001t0002g0207	2	134	0.0149	13	c.127 others(32): Show c.127-48790_127-48789insGTGTGTGTGTGTG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17431770	A A	ATTTTTTC others(6): Show ATTTTTTCACAGAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01123.hp2 others(30): Show HG00621.hp1 HG00673.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG02071.hp1 HG02165.hp1 HG02647.hp2 HG02896.hp1 HG03239.hp1 HG03688.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0010 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0006t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0010t0037 a0014c0021t0021	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0093 others(30): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0002g0029 a0001c0001t0002g0200 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0004g0022 a0001c0001t0004g0105 a0001c0001t0004g0254 a0001c0001t0008g0126 a0001c0001t0011g0310 a0001c0001t0015g0166 a0001c0001t0017g0276 a0001c0006t0004g0123 a0002c0002t0001g0078 a0002c0002t0001g0184 a0002c0002t0002g0081 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0149 a0002c0002t0003g0025 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0110 a0002c0002t0003g0153 a0002c0002t0003g0208 a0002c0002t0003g0233 a0002c0002t0005g0302 a0002c0002t0005g0303 a0002c0002t0007g0306 a0002c0010t0037g0269 a0014c0021t0021g0005	33	322	0.1025	13	c.127 others(32): Show c.127-45812_127-45811insCACAGATTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17447033	C C	CTGGTTTT others(6): Show CTGGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0159 a0001c0001t0020g0285 a0001c0001t0020g0159 a0001c0001t0020g0285	2	152	0.0132	13	c.127 others(32): Show c.127-30554_127-30553insGGTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar

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