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
CCDC134_chr22_41795679_41837164	41819963	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0124 a0002c0002t0014g0124	1	154	0.0065	26	c.565 others(43): Show c.565-5724_565-5699dupTATATATATATATATATATATATATA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC134_chr22_41795679_41837164	41819978	T T	TATACATA others(19): Show TATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	321	0.0031	26	c.565 others(43): Show c.565-5717_565-5716insCATATATATATATATATATATACATA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(19): Show CTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	31	0.0323	26	c.856 others(43): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC13_chr3_42700756_42778253	42743587	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02109.hp1 HG02602.hp2 others(8): Show HG02015.hp2 HG02109.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03471.hp2 NA18955.hp1 NA18957.hp1 NA19010.hp2 NA19060.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0003 a0003c0003t0011 a0005c0007t0003 a0003c0003t0003 a0003c0003t0011 a0005c0007t0003	a0003c0003t0003g0018 a0003c0003t0003g0020 a0003c0003t0003g0026 others(8): Show a0003c0003t0003g0018 a0003c0003t0003g0020 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0033 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0011g0098 a0005c0007t0003g0023	11	274	0.0401	26	c.826 others(41): Show c.826-531_826-530insTATATATATATATATATATATATATA	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC141_chr2_178824757_179055137	178870231	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0223 a0001c0007t0003g0223	1	50	0.0200	26	c.220 others(43): Show c.2206-927_2206-926insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	14/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178981636	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02615.hp1 HG03688.hp1 others(6): Show HG02155.hp1 HG02615.hp1 HG03688.hp1 HG04204.hp1 NA18949.hp2 NA18979.hp1 NA19043.hp2 NA19058.hp2 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0024	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0008 a0007c0015 a0024c0038	a0001c0001t0001 a0001c0001t0067 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0067 a0001c0002t0002 a0001c0002t0004 a0002c0003t0022 a0003c0004t0021 a0005c0008t0005 a0007c0015t0005 a0024c0038t0008	a0001c0001t0001g0089 a0001c0001t0067g0049 a0001c0002t0002g0173 others(6): Show a0001c0001t0001g0089 a0001c0001t0067g0049 a0001c0002t0002g0173 a0001c0002t0004g0140 a0002c0003t0022g0243 a0003c0004t0021g0088 a0005c0008t0005g0164 a0007c0015t0005g0239 a0024c0038t0008g0130	9	82	0.1098	26	c.226 others(43): Show c.226-2962_226-2961insTATATATATATATATATATATATATA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178981636	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0056 a0001c0011t0031g0056	1	74	0.0135	26	c.226 others(43): Show c.226-2962_226-2961insTATATATATATATATATATATATACA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179002893	A A	ATAATAAC others(19): Show ATAATAACTCTCACAAATACATCAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0017 a0017	a0017c0045 a0017c0045	a0017c0045t0005 a0017c0045t0005	a0017c0045t0005g0262 a0017c0045t0005g0262	1	272	0.0037	26	c.226 others(45): Show c.226-24219_226-24218insATTTGATGTATTTGTGAGAGTTATTA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16718832	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0030 a0001c0001t0021 a0001c0004t0030	a0001c0001t0021g0237 a0001c0004t0030g0286 a0001c0001t0021g0237 a0001c0004t0030g0286	2	221	0.0090	26	c.171 others(45): Show c.1716-1349_1716-1348insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729963	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18953.hp2 NA18961.hp1 others(2): Show HG03098.hp2 NA18953.hp2 NA18961.hp1 NA19001.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0206 a0002c0002t0002g0209 a0002c0002t0002g0211 others(2): Show a0002c0002t0002g0206 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0006g0289	5	106	0.0472	26	c.210 others(45): Show c.2106-1833_2106-1808dupTATATATATATATATATATATATATA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01261.hp1 others(1): Show HG00323.hp1 HG00738.hp1 HG01261.hp1 HG01433.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0023 a0001c0004 a0006c0023	a0001c0004t0005 a0001c0004t0015 a0006c0023t0015 a0001c0004t0005 a0001c0004t0015 a0006c0023t0015	a0001c0004t0005g0280 a0001c0004t0005g0281 a0001c0004t0015g0282 others(1): Show a0001c0004t0005g0280 a0001c0004t0005g0281 a0001c0004t0015g0282 a0006c0023t0015g0287	4	303	0.0132	26	c.210 others(45): Show c.2106-1808_2106-1807insTATATATATATATATATACACACACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC146_chr7_77117615_77300204	77295947	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01515.hp1 HG01517.hp2 others(3): Show HG00099.hp2 HG01515.hp1 HG01517.hp2 HG02922.hp1 NA18947.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0061 a0001c0001t0002g0092 a0001c0001t0002g0093 others(3): Show a0001c0001t0002g0061 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0002c0002t0002g0174	6	126	0.0476	26	c.10 others(37): Show c.1081_*1082insTGTGTGTGTGTGTGTGTGTGTGTGTG	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding		744		chr7	TogoVar
CCDC149_chr4_24798514_24918042	24813489	A A	AATATATC others(19): Show AATATATCTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0326 a0001c0001t0070g0326	1	35	0.0286	26	c.117 others(45): Show c.1178-4671_1178-4670insATATATATATATATATATAGATATAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	12/12			chr4	TogoVar
CCDC154_chr16_1429383_1449556	1432006	T T	TTGATCAA others(19): Show TTGATCAAGAGCCATGGAGCCCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01099.hp2 others(1): Show HG00140.hp1 HG00642.hp1 HG01099.hp2 NA20300.hp1	a0001 a0006 a0030 a0001 a0006 a0030	a0001c0001 a0006c0011 a0030c0016 a0001c0001 a0006c0011 a0030c0016	a0001c0001t0001 a0006c0011t0007 a0030c0016t0007 a0001c0001t0001 a0006c0011t0007 a0030c0016t0007	a0001c0001t0001g0001 a0006c0011t0007g0176 a0006c0011t0007g0177 others(1): Show a0001c0001t0001g0001 a0006c0011t0007g0176 a0006c0011t0007g0177 a0030c0016t0007g0178	4	239	0.0167	26	c.24 others(37): Show c.2401_*2402insCAGTGGGGCTCCATGGCTCTTGATCA	CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding		2376		chr16	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCACGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	39	0.0256	26	c.822 others(39): Show c.822+63_822+64insGCGCGCGCGCACGCGCGCACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp2 NA19064.hp2 others(1): Show HG01981.hp1 HG02273.hp2 NA19064.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0096 a0002c0002t0002g0109 others(1): Show a0002c0002t0002g0078 a0002c0002t0002g0096 a0002c0002t0002g0109 a0002c0002t0002g0114	4	42	0.0952	26	c.822 others(39): Show c.822+63_822+64insGCGCGCGCGCGCGCACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18971.hp2 NA19054.hp2 HG03491.hp1 NA18971.hp2 NA19054.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0016 a0004c0004t0003 a0002c0002t0002 a0002c0002t0016 a0004c0004t0003	a0002c0002t0002g0122 a0002c0002t0016g0009 a0004c0004t0003g0056 a0002c0002t0002g0122 a0002c0002t0016g0009 a0004c0004t0003g0056	3	41	0.0732	26	c.822 others(39): Show c.822+63_822+64insGCGCGCGCGCGCGCGCACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	39	0.0256	26	c.822 others(39): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15664567	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01891.hp2 others(23): Show HG00558.hp1 HG01069.hp2 HG01891.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02735.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 NA18942.hp1 NA18964.hp2 NA18972.hp2 NA18980.hp1 NA18983.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19058.hp2 NA19081.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0008 a0015 a0017	a0002c0002 a0003c0003 a0004c0004 others(4): Show a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0008c0008 a0015c0018 a0017c0026	a0002c0002t0002 a0002c0002t0021 a0003c0003t0002 others(9): Show a0002c0002t0002 a0002c0002t0021 a0003c0003t0002 a0003c0003t0006 a0003c0003t0007 a0003c0003t0018 a0004c0004t0001 a0004c0004t0003 a0006c0006t0003 a0008c0008t0008 a0015c0018t0002 a0017c0026t0024	a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0094 others(23): Show a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0094 a0002c0002t0002g0116 a0002c0002t0021g0098 a0003c0003t0002g0049 a0003c0003t0006g0253 a0003c0003t0006g0266 a0003c0003t0007g0262 a0003c0003t0007g0264 a0003c0003t0007g0265 a0003c0003t0018g0260 a0004c0004t0001g0038 a0004c0004t0003g0004 a0004c0004t0003g0007 a0004c0004t0003g0039 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0043 a0004c0004t0003g0045 a0004c0004t0003g0047 a0004c0004t0003g0048 a0006c0006t0003g0033 a0008c0008t0008g0072 a0015c0018t0002g0097 a0017c0026t0024g0075	26	39	0.6667	26	c.916 others(43): Show c.916-1574_916-1573insACACACACACACACACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15860936	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0002 a0016c0025t0002	a0016c0025t0002g0232 a0016c0025t0002g0232	1	24	0.0417	26	c.346 others(47): Show c.3468+11990_3468+12015dupTGTGTGTGTGTGTGTGTGTGTGTG TG	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC175_chr14_59500067_59581812	59502750	A A	ATTTTTGT others(19): Show ATTTTTGTTTTTTTGTTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG02615.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0148 a0001c0008t0001g0260 a0001c0004t0001g0148 a0001c0008t0001g0260	2	272	0.0074	26	c.24 others(37): Show c.2488_*2489insCAAAAACAAAAACAAAAAAACAAAAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2316		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59502750	A A	ATTTTTGT others(19): Show ATTTTTGTTTTTTTTTTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02895.hp1 others(2): Show HG02258.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0216 others(2): Show a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218	5	275	0.0182	26	c.24 others(37): Show c.2488_*2489insCAAAAACAAAAAAAAAAAAACAAAAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2316		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59502750	A A	ATTTTTTT others(19): Show ATTTTTTTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp2 others(3): Show HG00140.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp1 HG02071.hp1 NA20752.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0046 a0004c0006t0001g0102 a0004c0006t0001g0116 others(3): Show a0004c0006t0001g0046 a0004c0006t0001g0102 a0004c0006t0001g0116 a0004c0006t0001g0142 a0004c0006t0001g0143 a0004c0006t0001g0146	6	276	0.0217	26	c.24 others(37): Show c.2488_*2489insCAAAACAAAACAAAACAAAAAAAAAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2316		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59502753	T T	TTTGTTTT others(19): Show TTTGTTTTGTTTTGTTTTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02970.hp1 HG02976.hp1 HG01081.hp2 HG02970.hp1 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0054 a0003c0003t0001g0033 a0003c0003t0001g0147 a0001c0001t0001g0054 a0003c0003t0001g0033 a0003c0003t0001g0147	3	218	0.0138	26	c.24 others(37): Show c.2485_*2486insCAAAACAAAAAAACAAAACAAAACAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2313		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59508399	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01109.hp2 others(25): Show HG00408.hp1 HG00544.hp2 HG01109.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02109.hp1 HG02155.hp2 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG03471.hp2 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG04228.hp1 NA18945.hp1 NA18964.hp2 NA18983.hp1 NA18995.hp1 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0003c0003 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0003c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0128 a0001c0004t0001g0156 others(21): Show a0001c0001t0001g0020 a0001c0001t0001g0128 a0001c0004t0001g0156 a0001c0004t0001g0169 a0001c0004t0001g0214 a0001c0004t0001g0218 a0001c0008t0001g0263 a0002c0002t0001g0002 a0002c0002t0001g0136 a0002c0002t0001g0163 a0002c0002t0001g0172 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0249 a0003c0003t0001g0033 a0003c0003t0001g0093 a0003c0005t0001g0264	28	38	0.7368	26	c.230 others(45): Show c.2305+2221_2305+2246dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	19/19			chr14	TogoVar
CCDC175_chr14_59500067_59581812	59508423	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	291	0.0034	26	c.230 others(45): Show c.2305+2222_2305+2223insATGTGTGTGTGTGTGTGTGTGTGTGT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	19/19			chr14	TogoVar
CCDC177_chr14_69564799_69579871	69578481	A A	ACTTCTGA others(19): Show ACTTCTGAATCTTATTAATTGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	336	0.0030	26	c.-39 others(37): Show c.-3969_-3968insGAGAGGCAATTAATAAGATTCAGAAG	CCDC177	ENSG00000267909.3	transcript	ENST00000599174.3	protein_coding		3611		chr14	TogoVar
CCDC178_chr18_32932406_33445721	33179095	A A	ATATATAA others(19): Show ATATATAAACTATATATATATATAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03710.hp2 HG02572.hp1 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0037 a0003c0003t0001g0017 a0003c0003t0001g0037	2	45	0.0444	26	c.223 others(47): Show c.2238+32800_2238+32801insGTTTATATATATATATAGTTTATA TA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC178_chr18_32932406_33445721	33179116	A A	ATATATAT others(19): Show ATATATATATAAACTATATATATAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03041.hp1 others(3): Show HG02257.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp2 NA18522.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0027 a0003c0003t0001g0035 others(3): Show a0003c0003t0001g0021 a0003c0003t0001g0027 a0003c0003t0001g0035 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0044	6	39	0.1538	26	c.223 others(47): Show c.2238+32779_2238+32780insGTTTATATATATAGTTTATATATA TA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC178_chr18_32932406_33445721	33179148	A A	ATATATAT others(19): Show ATATATATAAACTATATATATATAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0031 a0007c0008t0001g0031	1	56	0.0179	26	c.223 others(47): Show c.2238+32747_2238+32748insGTTTATATATATATAGTTTATATA TA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC178_chr18_32932406_33445721	33435684	T T	TAATAATA others(19): Show TAATAATAATATTTATTATTATAATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02145.hp1 others(17): Show HG01243.hp1 HG01433.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03540.hp2 HG03710.hp2 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18988.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008 a0009c0005 a0010c0012 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0007c0008t0001 a0009c0005t0003 a0010c0012t0001 a0011c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0030 a0002c0002t0001g0018 a0002c0002t0001g0020 a0003c0003t0001g0017 a0003c0003t0001g0021 a0003c0003t0001g0027 a0007c0008t0001g0031 a0009c0005t0003g0006 a0010c0012t0001g0054 a0011c0007t0001g0024	20	56	0.3571	26	c.-23 others(43): Show c.-23+4252_-23+4277dupGTATTATAATAATAAATATTATTATT	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	2/22			chr18	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp2 NA18965.hp2 HG00621.hp1 NA18941.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	3	79	0.0380	26	c.196 others(43): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAATATATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(19): Show ATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19070.hp1 HG00741.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0002 a0002c0002t0002g0007	2	78	0.0256	26	c.196 others(43): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAAAATATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATTT others(19): Show ATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19054.hp2 NA19070.hp2 NA18962.hp2 NA19054.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0034 a0002c0002t0002g0007 a0002c0002t0002g0008 a0001c0001t0001g0034 a0002c0002t0002g0007 a0002c0002t0002g0008	3	79	0.0380	26	c.196 others(43): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAAAAAATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC187_chr9_136244973_136309094	136293453	T T	TCACACAC others(19): Show TCACACACATGCTCACACACATGCTCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03098.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2	a0057 a0116 a0057 a0116	a0057c0136 a0057c0177 a0116c0134 a0057c0136 a0057c0177 a0116c0134	a0057c0136t0059 a0057c0177t0060 a0116c0134t0039 a0057c0136t0059 a0057c0177t0060 a0116c0134t0039	a0057c0136t0059g0196 a0057c0177t0060g0269 a0116c0134t0039g0212 a0057c0136t0059g0196 a0057c0177t0060g0269 a0116c0134t0039g0212	3	196	0.0153	26	c.833 others(43): Show c.833-1159_833-1158insTGAGCATGTGTGTGAGCATGTGTGTG	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	4/25			chr9	TogoVar
CCDC191_chr3_113959137_114061526	114006587	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0289 a0001c0004t0001g0289	1	161	0.0062	26	c.141 others(43): Show c.1414-651_1414-626dupATATATATATATATATATATATATAT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	9/16			chr3	TogoVar
CCDC192_chr5_127698391_127946507	127792525	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	126	0.0079	26	c.223 others(43): Show c.223-4556_223-4555insATATATATATATATATATATATATAT	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	111	0.0090	26	c.535 others(43): Show c.535+8683_535+8708dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127918216	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	144	0.0069	26	c.536 others(45): Show c.536-22947_536-22946insAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(19): Show AAAGAAAGAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	155	0.0065	26	c.82 others(37): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18962.hp2 NA18981.hp1 others(2): Show NA18953.hp2 NA18962.hp2 NA18981.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0001c0001t0001 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0001 a0001c0001t0001g0089 a0002c0002t0002g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0089 a0002c0002t0002g0003 a0002c0002t0007g0020	5	159	0.0314	26	c.82 others(37): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382280	A A	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	42	0.0238	26	c.82 others(37): Show c.8228_*8229insCTTTCTTTCTTTCTTTCTTTCTTTTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4915		chr19	TogoVar
CCDC200_chr17_43216420_43233623	43223459	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01361.hp1 others(19): Show HG00597.hp2 HG00621.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp1 HG02004.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02809.hp2 HG02976.hp1 NA18944.hp1 NA18963.hp2 NA18981.hp1 NA19009.hp1 NA19058.hp2 NA19078.hp1 NA19081.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0044 others(17): Show a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0001g0162 a0002c0005t0001g0164	22	65	0.3385	26	c.480 others(39): Show c.480+96_480+97insGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	3/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225680	G G	GTATATAT others(19): Show GTATATATAAATATATATATAGATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0063 a0005c0006t0001g0063	1	159	0.0063	26	c.106 others(43): Show c.106-1132_106-1131insTATATCTATATATATATTTATATATA	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	204	0.0049	26	c.106 others(43): Show c.106-1145_106-1144insTTTTATATATATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20129.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0152 a0001c0002t0001g0153	2	205	0.0098	26	c.106 others(43): Show c.106-1145_106-1144insTTATATATATATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC22_chrX_49230470_49255520	49230645	A A	AGGCCTTG others(19): Show AGGCCTTGGGATTCCCCCCTCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	294	0.0034	26	c.-49 others(37): Show c.-4992_-4991insGGCCTTGGGATTCCCCCCTCCACCCT	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding		4824		chrX	TogoVar
CCDC34_chr11_27333512_27368215	27356896	T T	TGGGGTGG others(19): Show TGGGGTGGGGTTGGGGGTGGTGGGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	356	0.0028	26	c.498 others(41): Show c.498+481_498+506dupCACCCCACCACCCCCAACCCCACCCC	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	2/5			chr11	TogoVar
CCDC34_chr11_27333512_27368215	27356932	T T	TGGGGGTG others(19): Show TGGGGGTGGTGGGGTGGGGTGGGGTTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	356	0.0028	26	c.498 others(41): Show c.498+470_498+471insCAACCCCACCCCACCCCACCACCCCC	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	2/5			chr11	TogoVar
CCDC40_chr17_80031642_80105613	80037690	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18998.hp2 NA18945.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0033 a0001c0001t0001g0059	2	119	0.0168	26	c.30- others(39): Show c.30-428_30-427insTATATATATATATATATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar

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