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
COPS5_chr8_67038079_67067133	67056649	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 NA18963.hp1 others(1): Show HG00099.hp2 HG00544.hp1 NA18963.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0165 a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0165	4	282	0.0142	-19	c.574 others(32): Show c.574-64_574-46delATATATATATATATATTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056651	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp1 HG01934.hp2 others(8): Show HG01106.hp2 HG01934.hp1 HG01934.hp2 HG02129.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG04184.hp1 NA19079.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0171 a0001c0001t0001g0179	11	270	0.0407	-19	c.574 others(32): Show c.574-66_574-48delATATATATATATATATATT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01346.hp2 HG01358.hp1 others(9): Show HG00673.hp1 HG01346.hp2 HG01358.hp1 HG01952.hp1 HG01993.hp2 HG02056.hp1 HG02148.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 NA18944.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0130 a0001c0002t0001g0159	12	230	0.0522	-19	c.574 others(32): Show c.574-68_574-50delATATATATATATATATATA	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPZ1_chr12_54320131_54356846	54326961	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00642.hp2 others(63): Show HG00323.hp2 HG00408.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18939.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0063 others(53): Show a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0011g0211 a0001c0002t0003g0199	66	141	0.4681	-19	c.18+ others(34): Show c.18+1799_18+1817delTTTTTTTTTTTTTTTTTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COQ10B_chr2_197448552_197480310	197463951	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03017.hp1 HG03239.hp2 HG00408.hp1 HG03017.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0267 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0267	3	385	0.0078	-19	c.447 others(36): Show c.447+1222_447+1240delAAAAAAAAAAAAATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463955	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	360	0.0028	-19	c.447 others(36): Show c.447+1226_447+1244delAAAAAAAAATATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ3_chr6_99364401_99399195	99385987	AAAAAAAG others(12): Show AAAAAAAGAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	431	0.0023	-19	c.107 others(36): Show c.107-2182_107-2164delCTTTTTTCTTTTCTTTTTT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ9_chr16_57442479_57466270	57445834	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG03579.hp2 others(1): Show HG02257.hp1 HG02886.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052	4	59	0.0678	-19	c.-16 others(30): Show c.-1671_-1653delTTTTTTTTTTTTTTTTTTT	COQ9	ENSG00000088682.14	transcript	ENST00000262507.11	protein_coding		1644		chr16	TogoVar
CORO2B_chr15_68573993_68732806	68579187	TCCGCCGC others(12): Show TCCGCCGCCGCCCCGGGCCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02738.hp2 HG01884.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0201 a0001c0001t0020g0203 a0001c0001t0019g0201 a0001c0001t0020g0203	2	247	0.0081	-19	c.-62 others(26): Show c.-62_-44delGGGCCGCCGCCGCCGCCCC	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/12	44	INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68650355	CTAAAAAA others(12): Show CTAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 HG03654.hp1 HG02486.hp1 HG03130.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0004g0134 a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0004g0134	3	173	0.0173	-19	c.216 others(36): Show c.216+4996_216+5014delTAAAAAAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11			chr15	TogoVar
CORO2B_chr15_68573993_68732806	68703150	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	44	0.0227	-19	c.334 others(36): Show c.334-7581_334-7563delTTTTTTTTTTTTTTTTTTT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11			chr15	TogoVar
CORO2B_chr15_68573993_68732806	68723047	ACAAGAGT others(12): Show ACAAGAGTGAAACTCCGTCT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 NA18947.hp2 others(7): Show HG02015.hp1 HG02040.hp1 NA18947.hp2 NA18966.hp2 NA18968.hp1 NA18975.hp2 NA18983.hp2 NA19002.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0002g0102 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0002g0102 a0001c0001t0002g0148 a0001c0001t0002g0231 a0001c0001t0003g0158 a0001c0001t0004g0103 a0001c0001t0004g0205 a0001c0001t0005g0208 a0001c0001t0007g0193	10	254	0.0394	-19	c.131 others(38): Show c.1312-2792_1312-2774delGAGTGAAACTCCGTCTCAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO7_chr16_4349542_4421596	4351142	CCGCCGCC others(12): Show CCGCCGCCCAGCCCGGAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03704.hp2 HG01361.hp1 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0155 a0002c0001t0001g0251 a0002c0001t0001g0155 a0002c0001t0001g0251	2	296	0.0068	-19	c.39 others(30): Show c.3997_*4015delAGCTCCGGGCTGGGCGGCG	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding		3399		chr16	TogoVar
CORO7_chr16_4349542_4421596	4417124	CCTCTGCA others(12): Show CCTCTGCATCCGGCCAGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0003 a0018c0016t0003	a0018c0016t0003g0257 a0018c0016t0003g0257	1	296	0.0034	-19	c.-62 others(28): Show c.-625_-607delCGCCTGGCCGGATGCAGAG	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding		529		chr16	TogoVar
COX10_chr17_14064504_14213677	14073350	GGATGTTC others(12): Show GGATGTTCCTGAAGTCTTCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(13): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01358.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02293.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG04204.hp1 HG06807.hp2 NA20129.hp1	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0009 a0003c0017 a0004c0018 others(2): Show a0003c0009 a0003c0017 a0004c0018 a0004c0019 a0010c0026	a0003c0009t0007 a0003c0017t0003 a0004c0018t0001 others(3): Show a0003c0009t0007 a0003c0017t0003 a0004c0018t0001 a0004c0019t0001 a0004c0019t0003 a0010c0026t0001	a0003c0009t0007g0035 a0003c0009t0007g0036 a0003c0009t0007g0049 others(13): Show a0003c0009t0007g0035 a0003c0009t0007g0036 a0003c0009t0007g0049 a0003c0009t0007g0050 a0003c0009t0007g0051 a0003c0009t0007g0052 a0003c0009t0007g0053 a0003c0009t0007g0054 a0003c0009t0007g0055 a0003c0009t0007g0056 a0003c0017t0003g0037 a0004c0018t0001g0060 a0004c0018t0001g0061 a0004c0019t0001g0059 a0004c0019t0003g0058 a0010c0026t0001g0057	16	320	0.0500	-19	c.44- others(32): Show c.44-955_44-937delCAGATGTTCCTGAAGTCTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPA3_chr3_148860296_148902203	148899547	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02818.hp2 HG02886.hp2 others(1): Show HG00741.hp2 HG02818.hp2 HG02886.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0188 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0188 a0001c0001t0001g0226 a0001c0001t0001g0227	4	16	0.2500	-19	c.28 others(30): Show c.2841_*2859delAAAAAAAAAAAAAAAAAAA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding		2345		chr3	TogoVar
CPA6_chr8_67417038_67751360	67475785	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp2 HG01884.hp1 others(12): Show HG01069.hp2 HG01255.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03540.hp1 NA18981.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0010	a0001c0001 a0002c0002 a0004c0005 others(3): Show a0001c0001 a0002c0002 a0004c0005 a0006c0006 a0008c0009 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0005t0001 a0006c0006t0001 a0008c0009t0004 a0010c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0002g0071 a0002c0002t0001g0130 a0004c0005t0001g0117 a0006c0006t0001g0052 a0008c0009t0004g0110 a0010c0008t0001g0124	15	130	0.1154	-19	c.838 others(36): Show c.838+7964_838+7982delAAAGAAAGAAAGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16903366	TGGGGGTG others(12): Show TGGGGGTGGCACACCTGAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02257.hp1 others(11): Show HG01167.hp1 HG01169.hp2 HG02257.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp1 NA20129.hp2	a0007 a0009 a0025 others(10): Show a0007 a0009 a0025 a0026 a0033 a0040 a0043 a0086 a0088 a0091 a0093 a0095 a0103	a0007c0016 a0009c0004 a0025c0147 others(10): Show a0007c0016 a0009c0004 a0025c0147 a0026c0067 a0033c0071 a0040c0175 a0043c0167 a0086c0079 a0088c0172 a0091c0098 a0093c0144 a0095c0162 a0103c0110	a0007c0016t0001 a0009c0004t0001 a0025c0147t0001 others(10): Show a0007c0016t0001 a0009c0004t0001 a0025c0147t0001 a0026c0067t0001 a0033c0071t0001 a0040c0175t0001 a0043c0167t0001 a0086c0079t0001 a0088c0172t0001 a0091c0098t0001 a0093c0144t0001 a0095c0162t0001 a0103c0110t0001	a0007c0016t0001g0123 a0007c0016t0001g0124 a0009c0004t0001g0069 others(11): Show a0007c0016t0001g0123 a0007c0016t0001g0124 a0009c0004t0001g0069 a0025c0147t0001g0009 a0026c0067t0001g0004 a0033c0071t0001g0070 a0040c0175t0001g0075 a0043c0167t0001g0272 a0086c0079t0001g0080 a0088c0172t0001g0006 a0091c0098t0001g0065 a0093c0144t0001g0118 a0095c0162t0001g0017 a0103c0110t0001g0055	14	276	0.0507	-19	c.447 others(36): Show c.4470+176_4470+194delTCTCAGGTGTGCCACCCCC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	34/41			chr19	TogoVar
CPEB1_chr15_82538201_82652363	82579918	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG02451.hp2 others(8): Show HG01346.hp2 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp2 HG03471.hp1 HG03486.hp1 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 others(8): Show a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0224 a0001c0001t0009g0251 a0001c0001t0017g0228 a0001c0001t0024g0120	11	23	0.4783	-19	c.272 others(36): Show c.272-8405_272-8387delTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82610958	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	95	0.0105	-19	c.271 others(38): Show c.271+16216_271+16234delTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92190665	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	30	0.0333	-19	c.116 others(38): Show c.1165+1793_1165+1811delTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	3/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	120997928	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0009 a0001c0003t0013g0009	1	127	0.0079	-19	c.249 others(36): Show c.249+8062_249+8080delTAAAATAAAATAAAATAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121277067	GAGTATAA others(12): Show GAGTATAAAAGAGAAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0113 a0001c0007t0001g0113	1	138	0.0072	-19	c.286 others(38): Show c.2868+5645_2868+5663delAAGAGAAGTGTAAGTATAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX1_chr4_779957_831129	784291	CGGCCTGA others(12): Show CGGCCTGAACCACCGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(97): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18960.hp1 NA18964.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0003t0002 a0002c0002t0002	a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0016 others(93): Show a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0302 a0001c0001t0002g0317 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0007g0035 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0081 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0123 a0001c0001t0007g0154 a0001c0001t0007g0189 a0001c0001t0007g0201 a0001c0001t0007g0259 a0001c0001t0007g0263 a0001c0001t0007g0272 a0001c0001t0007g0275 a0001c0001t0007g0288 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0314 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0368 a0001c0001t0007g0375 a0001c0001t0008g0265 a0001c0001t0010g0010 a0001c0001t0010g0087 a0001c0001t0010g0105 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0010g0152 a0001c0001t0010g0175 a0001c0001t0010g0325 a0001c0001t0010g0377 a0001c0001t0014g0127 a0001c0001t0014g0298 a0001c0001t0017g0024 a0001c0001t0020g0320 a0001c0001t0022g0346 a0001c0001t0023g0278 a0001c0001t0026g0284 a0001c0003t0002g0324 a0002c0002t0002g0182	100	414	0.2415	-19	c.21 others(30): Show c.2191_*2209delAGGTGCGGTGGTTCAGGCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		665		chr4	TogoVar
CPLX1_chr4_779957_831129	826421	CCGGGGGC others(12): Show CCGGGGGCGGGGGCGGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03516.hp1 HG03704.hp1 others(6): Show HG02129.hp2 HG03516.hp1 HG03704.hp1 HG04204.hp2 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18975.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0027	a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0005g0002 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0005g0002 a0001c0001t0005g0086 a0001c0001t0005g0099 a0001c0001t0006g0073 a0001c0001t0007g0112 a0001c0001t0027g0042	9	400	0.0225	-19	c.-47 others(28): Show c.-474_-456delCCCCCCGCCCCCGCCCCCG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		293		chr4	TogoVar
CPN2_chr3_194334768_194356328	194349778	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0063 a0001c0005t0002g0063	1	56	0.0179	-19	c.-4+ others(34): Show c.-4+1445_-4+1463delAAAAAAAAAAAAAAAAAAA	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708959	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	92	0.0109	-19	c.361 others(36): Show c.361-8998_361-8980delTATATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801371	CCATATAT others(12): Show CCATATATATATATATGGTA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0069 a0001c0003t0010g0087 a0001c0001t0002g0069 a0001c0003t0010g0087	2	92	0.0217	-19	c.181 others(38): Show c.181-77765_181-77747delTACCATATATATATATATG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01169.hp2 HG01069.hp1 HG01071.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0076 a0001c0001t0003g0020 a0001c0002t0001g0021 a0001c0001t0002g0076 a0001c0001t0003g0020 a0001c0002t0001g0021	3	12	0.2500	-19	c.180 others(38): Show c.180+90673_180+90691delAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89571126	CGGGCACG others(12): Show CGGGCACGGGAGGAGGTGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA19088.hp2 NA18940.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0048 a0001c0002t0004g0056 a0001c0001t0001g0048 a0001c0002t0004g0056	2	344	0.0058	-19	c.-47 others(30): Show c.-4771_-4753delGGGCACGGGAGGAGGTGAG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4631		chr16	TogoVar
CPQ_chr8_96640242_97148501	96777744	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	85	0.0118	-19	c.-34 others(36): Show c.-34-7118_-34-7100delATATATATATATATATTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96777746	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02273.hp2 HG01261.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0002t0001g0040 a0001c0001t0001g0046 a0001c0002t0001g0040	2	110	0.0182	-19	c.-34 others(36): Show c.-34-7116_-34-7098delATATATATATATATTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97080341	GACATTTC others(12): Show GACATTTCAGTCTTAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00733.hp2 others(48): Show HG00099.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp2 NA18747.hp1 NA18949.hp1 NA18962.hp1 NA18964.hp2 NA18989.hp2 NA18990.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0005 a0005c0009 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0003c0005t0001 a0005c0009t0001 a0007c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0033 others(48): Show a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0002g0022 a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0113 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0007t0001g0038 a0001c0008t0001g0116 a0002c0003t0001g0008 a0002c0003t0001g0052 a0002c0003t0001g0055 a0002c0003t0001g0118 a0003c0005t0001g0007 a0003c0005t0001g0069 a0005c0009t0001g0063 a0007c0012t0001g0090	51	124	0.4113	-19	c.125 others(40): Show c.1255+14140_1255+14158delGTCTTAGAGTAACATTTCA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210644893	ATTAATGG others(12): Show ATTAATGGAATTTTGGGAGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG02258.hp1 HG03225.hp1	a0003 a0008 a0003 a0008	a0003c0031 a0008c0014 a0003c0031 a0008c0014	a0003c0031t0002 a0008c0014t0007 a0003c0031t0002 a0008c0014t0007	a0003c0031t0002g0018 a0008c0014t0007g0065 a0003c0031t0002g0018 a0008c0014t0007g0065	2	338	0.0059	-19	c.314 others(38): Show c.3141+2245_3141+2263delAGCTTAATGGAATTTTGGG	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	25/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPT1A_chr11_68749883_68846916	68817797	GGGGTCAA others(12): Show GGGGTCAAGGGCAGGGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0227 a0001c0001t0037g0227	1	234	0.0043	-19	c.-13 others(36): Show c.-13-2329_-13-2311delGACACCCTGCCCTTGACCC	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49699457	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	86	0.0116	-19	c.282 others(36): Show c.282-1211_282-1193delAAAAAAAAAAAAAAAAAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPVL_chr7_28990235_29151537	29123597	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0141 a0004c0009t0002g0141	1	161	0.0062	-19	c.-10 others(36): Show c.-10-2545_-10-2527delTTTTTTTTTTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123611	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02965.hp2 NA20129.hp1 HG01071.hp2 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 a0001c0001 a0001c0005 a0001c0014	a0001c0001t0001 a0001c0005t0001 a0001c0014t0001 a0001c0001t0001 a0001c0005t0001 a0001c0014t0001	a0001c0001t0001g0249 a0001c0005t0001g0056 a0001c0014t0001g0060 a0001c0001t0001g0249 a0001c0005t0001g0056 a0001c0014t0001g0060	3	278	0.0108	-19	c.-10 others(36): Show c.-10-2559_-10-2541delATTTTTTTTTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123613	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	280	0.0036	-19	c.-10 others(36): Show c.-10-2561_-10-2543delATATTTTTTTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPXM1_chr20_2789074_2805627	2800117	CGCGCGCG others(12): Show CGCGCGCGTGCACTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(66): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp2 HG01243.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19012.hp2 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0015 a0001c0001 a0003c0004 a0003c0015	a0001c0001t0001 a0003c0004t0001 a0003c0015t0001 a0001c0001t0001 a0003c0004t0001 a0003c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0044 a0003c0004t0001g0022 a0003c0015t0001g0068	69	452	0.1527	-19	c.172 others(34): Show c.172+265_172+283delACACACAGTGCACGCGCGC	CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding	1/13			chr20	TogoVar
CPXM2_chr10_123740639_123896807	123878296	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	102	0.0098	-19	c.403 others(36): Show c.403+1896_403+1914delAAAAAAAAAAAAAAAAAAA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	2/13			chr10	TogoVar
CRACD_chr4_56044098_56335609	56308302	CACCATCC others(12): Show CACCATCCTGTCTAAATTTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	248	0.0040	-19	c.285 others(34): Show c.285+605_285+623delCCATCCTGTCTAAATTTGA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3660868	ACACACAC others(12): Show ACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	318	0.0031	-19	c.672 others(36): Show c.672-1233_672-1215delGTGTGTGTGTGTGTGTGTG	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19			chr12	TogoVar
CRADD_chr12_93672375_93855756	93809088	ATTTTTAA others(12): Show ATTTTTAATGGAAACAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02809.hp1 others(9): Show HG02055.hp1 HG02257.hp2 HG02809.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0055 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0221 a0001c0001t0001g0243 a0002c0003t0001g0076	12	246	0.0488	-19	c.299 others(38): Show c.299-40879_299-40861delTTTAATGGAAACAGAGTTT	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRADD_chr12_93672375_93855756	93810551	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19066.hp2 HG03540.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0199 a0001c0001t0001g0070 a0001c0001t0001g0199	2	20	0.1000	-19	c.299 others(38): Show c.299-39397_299-39379delAAAAAAAAAAAAAAAAAAA	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRB1_chr1_197263252_197483455	197354823	CCACCCCC others(12): Show CCACCCCCCCCCCCCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG02293.hp2 others(2): Show HG01261.hp1 HG01261.hp2 HG02293.hp2 HG03831.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0002g0051	5	172	0.0291	-19	c.989 others(36): Show c.989-2006_989-1988delACCCCCCCCCCCCGCCCAC	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197354837	CGCCCACC others(12): Show CGCCCACCCCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0180 a0001c0002t0001g0169 a0001c0001t0001g0180 a0001c0002t0001g0169	2	182	0.0110	-19	c.989 others(36): Show c.989-1993_989-1975delGCCCACCCCCCCCCCCCCG	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11			chr1	TogoVar
CRB2_chr9_123351197_123383753	123378798	GTTTTTTG others(12): Show GTTTTTTGTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02723.hp2 HG00558.hp1 HG02723.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0002 a0005c0008t0001 a0001c0002t0002 a0005c0008t0001	a0001c0002t0002g0003 a0005c0008t0001g0026 a0001c0002t0002g0003 a0005c0008t0001g0026	2	216	0.0093	-19	c.17 others(30): Show c.1737_*1755delTTTTTTGTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		46		chr9	TogoVar
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02129.hp1 HG02523.hp1 others(2): Show HG01361.hp1 HG02129.hp1 HG02523.hp1 HG03927.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	20	0.2500	-19	c.-32 others(30): Show c.-3211_-3193delTTTTTTTTTTTTTTTTTTT	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		3037		chr19	TogoVar
CREBBP_chr16_3720054_3885713	3849419	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	284	0.0035	-19	c.798 others(34): Show c.798+859_798+877delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar

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