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
CNTLN_chr9_17130040_17508923	17440588	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02109.hp2 HG02723.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0077 a0006c0007t0002g0078 a0006c0007t0002g0077 a0006c0007t0002g0078	2	111	0.0180	19	c.311 others(40): Show c.3115-16922_3115-16921insAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40822148	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00738.hp1 others(14): Show HG00140.hp1 HG00642.hp2 HG00738.hp1 HG01433.hp2 HG01981.hp2 HG02083.hp1 HG02300.hp2 HG03239.hp2 HG04115.hp1 NA18943.hp2 NA18950.hp2 NA18977.hp2 NA18988.hp2 NA19010.hp2 NA19011.hp1 NA19062.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0022 a0001c0002t0027 a0001c0013t0001	a0001c0001t0002g0024 a0001c0001t0002g0109 a0001c0002t0001g0040 others(14): Show a0001c0001t0002g0024 a0001c0001t0002g0109 a0001c0002t0001g0040 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0111 a0001c0002t0001g0129 a0001c0002t0001g0162 a0001c0002t0001g0173 a0001c0002t0001g0189 a0001c0002t0005g0097 a0001c0002t0010g0126 a0001c0002t0010g0127 a0001c0002t0022g0171 a0001c0002t0027g0041 a0001c0013t0001g0050	17	53	0.3208	19	c.-76 others(38): Show c.-76-86203_-76-86185dupTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA18522.hp1 HG02895.hp2 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0058 a0001c0004t0007g0003 a0001c0004t0007g0004 a0001c0001t0007g0058 a0001c0004t0007g0003 a0001c0004t0007g0004	3	28	0.1071	19	c.-76 others(38): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41059187	C C	CCTTAATA others(12): Show CCTTAATACCAAATACCGAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0212 a0001c0004t0007g0212	1	230	0.0043	19	c.298 others(40): Show c.2981-10755_2981-10737dupGATCTTAATACCAAATACC	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2238735	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00735.hp1 others(13): Show HG00438.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01361.hp2 HG01978.hp2 HG02074.hp1 HG02074.hp2 HG02602.hp1 HG02738.hp2 HG02818.hp2 HG03486.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0013 a0001c0020 a0001c0023	a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 others(9): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0007t0016 a0001c0009t0004 a0001c0009t0014 a0001c0013t0007 a0001c0020t0002 a0001c0023t0004	a0001c0002t0002g0038 a0001c0002t0002g0078 a0001c0002t0004g0018 others(13): Show a0001c0002t0002g0038 a0001c0002t0002g0078 a0001c0002t0004g0018 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0107 a0001c0003t0003g0047 a0001c0004t0001g0027 a0001c0004t0002g0017 a0001c0004t0002g0048 a0001c0007t0016g0105 a0001c0009t0004g0005 a0001c0009t0014g0039 a0001c0013t0007g0056 a0001c0020t0002g0082 a0001c0023t0004g0041	16	90	0.1778	19	c.-14 others(42): Show c.-144-100433_-144-100432insTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2294288	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02074.hp2 HG01175.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0006 a0001c0007t0016 a0001c0003t0006 a0001c0007t0016	a0001c0003t0006g0040 a0001c0007t0016g0105 a0001c0003t0006g0040 a0001c0007t0016g0105	2	100	0.0200	19	c.-14 others(40): Show c.-144-44875_-144-44874insTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2611297	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	42	0.0238	19	c.55+ others(36): Show c.55+39754_55+39755insAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2804737	C C	CTTTAGTT others(12): Show CTTTAGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp1 others(2): Show HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01978.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0004t0006	a0001c0001t0001g0050 a0001c0001t0005g0098 a0001c0004t0001g0097 others(2): Show a0001c0001t0001g0050 a0001c0001t0005g0098 a0001c0004t0001g0097 a0001c0004t0001g0106 a0001c0004t0006g0044	5	92	0.0543	19	c.359 others(38): Show c.359-14746_359-14745insAGTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2804737	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(11): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01243.hp2 HG02074.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG02683.hp2 HG02818.hp2 HG03239.hp2 NA18990.hp1 NA18990.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0013 a0001c0020 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0003t0011 a0001c0004t0002 a0001c0009t0004 a0001c0013t0007 a0001c0020t0002 a0005c0026t0017	a0001c0001t0001g0100 a0001c0001t0002g0070 a0001c0001t0005g0115 others(11): Show a0001c0001t0001g0100 a0001c0001t0002g0070 a0001c0001t0005g0115 a0001c0002t0002g0102 a0001c0003t0001g0045 a0001c0003t0001g0071 a0001c0003t0001g0094 a0001c0003t0001g0116 a0001c0003t0011g0113 a0001c0004t0002g0072 a0001c0009t0004g0005 a0001c0013t0007g0056 a0001c0020t0002g0082 a0005c0026t0017g0046	14	101	0.1386	19	c.359 others(38): Show c.359-14740_359-14739insTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2834898	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03486.hp1 HG01361.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0004 a0001c0023t0004 a0001c0002t0004 a0001c0023t0004	a0001c0002t0004g0018 a0001c0023t0004g0041 a0001c0002t0004g0018 a0001c0023t0004g0041	2	23	0.0870	19	c.454 others(38): Show c.454+15331_454+15332insCTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2834898	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG02074.hp2 others(6): Show HG01175.hp2 HG01256.hp2 HG02074.hp2 HG02965.hp1 HG03239.hp2 NA18990.hp1 NA18990.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0005 a0001c0002t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0007 a0001c0002t0012 a0001c0003t0001 a0001c0003t0006 a0001c0007t0016	a0001c0001t0002g0055 a0001c0001t0002g0086 a0001c0001t0005g0115 others(6): Show a0001c0001t0002g0055 a0001c0001t0002g0086 a0001c0001t0005g0115 a0001c0002t0007g0080 a0001c0002t0012g0013 a0001c0003t0001g0071 a0001c0003t0001g0116 a0001c0003t0006g0040 a0001c0007t0016g0105	9	30	0.3000	19	c.454 others(38): Show c.454+15323_454+15341dupTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp1 HG01891.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0003 a0001c0002t0003 a0001c0006t0003	a0001c0002t0003g0024 a0001c0006t0003g0069 a0001c0002t0003g0024 a0001c0006t0003g0069	2	27	0.0741	19	c.455 others(36): Show c.455-1997_455-1996insAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2961231	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	63	0.0159	19	c.135 others(40): Show c.1359-27113_1359-27095dupAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp2 others(12): Show HG00738.hp1 HG01081.hp2 HG01099.hp2 HG02004.hp2 HG02723.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 NA18939.hp1 NA19000.hp2 NA19043.hp1 NA19070.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0005 a0008c0012 a0009c0008 a0011c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0002c0002t0001 a0002c0002t0003 a0003c0003t0017 a0005c0004t0002 a0005c0004t0020 a0006c0005t0001 a0008c0012t0008 a0009c0008t0007 a0011c0009t0005	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0004g0029 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0004g0029 a0001c0001t0006g0040 a0001c0001t0010g0047 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0003c0003t0017g0065 a0005c0004t0002g0001 a0005c0004t0020g0024 a0006c0005t0001g0035 a0008c0012t0008g0026 a0009c0008t0007g0038 a0011c0009t0005g0056	15	22	0.6818	19	c.-20 others(42): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCTTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99358255	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	8	0.1250	19	c.-71 others(38): Show c.-71+32773_-71+32791dupTTTTTTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02004.hp1 NA19000.hp1 others(1): Show HG01169.hp2 HG02004.hp1 NA19000.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0002c0002t0008 a0004c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0008 a0004c0006t0001 a0004c0006t0014	a0001c0001t0001g0054 a0002c0002t0008g0019 a0004c0006t0001g0005 others(1): Show a0001c0001t0001g0054 a0002c0002t0008g0019 a0004c0006t0001g0005 a0004c0006t0014g0058	4	21	0.1905	19	c.56- others(36): Show c.56-92228_56-92210dupAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1332526	G G	GGAAGGGG others(12): Show GGAAGGGGCGAGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03669.hp1 HG02074.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0057 a0001c0009t0001g0032 a0001c0002t0001g0057 a0001c0009t0001g0032	2	107	0.0187	19	c.136 others(38): Show c.1364+2596_1364+2597insGGCGAGCAAGGAATGAAGG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP1_chr17_42677531_42704993	42693051	G G	GGTTCAAG others(12): Show GGTTCAAGCAGTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0058 a0001c0023t0001g0058	1	362	0.0028	19	c.275 others(36): Show c.2753-245_2753-227dupGTTCAAGCAGTTCTCCTGC	CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	147560168	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	8	0.1250	19	c.177 others(38): Show c.1778-1965_1778-1947dupAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147641179	A A	AGAAACAA others(12): Show AGAAACAAAAACTTCCCCAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 NA19030.hp1 others(1): Show HG02717.hp2 HG02886.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0018 a0001c0005t0008 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0005t0008 a0001c0005t0022	a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0005t0008g0005 others(1): Show a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0005t0008g0005 a0001c0005t0022g0032	4	40	0.1000	19	c.209 others(38): Show c.2098+1875_2098+1876insAACAAAAACTTCCCCAGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147894957	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	28	0.0357	19	c.209 others(38): Show c.2099-8605_2099-8604insTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0016 a0001c0012 a0002c0016	a0001c0012t0004 a0002c0016t0004 a0001c0012t0004 a0002c0016t0004	a0001c0012t0004g0026 a0002c0016t0004g0024 a0001c0012t0004g0026 a0002c0016t0004g0024	2	10	0.2000	19	c.225 others(40): Show c.2255+15741_2255+15742insCTTTCTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	9	0.1111	19	c.225 others(40): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148253028	A A	AGATAGAT others(12): Show AGATAGATAGATAGACAGAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0011 a0001c0015t0001g0011	1	39	0.0256	19	c.338 others(40): Show c.3382-13991_3382-13990insCAGATGATAGATAGATAGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283255	A A	AGAAAAGA others(12): Show AGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03239.hp1 HG02717.hp1 HG03239.hp1	a0002 a0005 a0002 a0005	a0002c0017 a0005c0007 a0002c0017 a0005c0007	a0002c0017t0015 a0005c0007t0017 a0002c0017t0015 a0005c0007t0017	a0002c0017t0015g0037 a0005c0007t0017g0031 a0002c0017t0015g0037 a0005c0007t0017g0031	2	28	0.0714	19	c.347 others(40): Show c.3475+16129_3475+16130insGAAAAGAAAAGAAAGAAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030785	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	106	0.0094	19	c.391 others(38): Show c.391-17261_391-17260insCTCTCTCTCTCTCTCTCTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20905.hp1 HG03139.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0002 a0002c0002t0028	a0002c0002t0002g0039 a0002c0002t0028g0239 a0002c0002t0002g0039 a0002c0002t0028g0239	2	105	0.0190	19	c.133 others(38): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0005 a0009c0038t0005	a0009c0038t0005g0261 a0009c0038t0005g0261	1	104	0.0096	19	c.133 others(38): Show c.1334-1183_1334-1182insTATATATATATATATATAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23			chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76511838	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	48	0.0208	19	c.236 others(38): Show c.2366-9302_2366-9301insAGAGAGAGAGAGAGAGAGA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	15/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0001 a0001c0002t0001 a0002c0008t0001	a0001c0002t0001g0046 a0002c0008t0001g0039 a0001c0002t0001g0046 a0002c0008t0001g0039	2	13	0.1538	19	c.82+ others(36): Show c.82+31721_82+31739dupTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124599843	C C	CTCCTTAA others(12): Show CTCCTTAAATACTTTTCCTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0041 a0001c0002t0005g0045 a0001c0001t0005g0041 a0001c0002t0005g0045	2	62	0.0323	19	c.175 others(38): Show c.1757-9956_1757-9938dupCCTTAAATACTTTTCCTAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121092535	A A	ATATATAT others(12): Show ATATATATATAATATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	319	0.0031	19	c.348 others(36): Show c.348+2137_348+2138insATAATATATATCTATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092647	C C	CTATATAT others(12): Show CTATATATAATATATATCTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0166 a0011c0014t0001g0166	1	316	0.0032	19	c.349 others(36): Show c.349-2175_349-2157dupATATATATCTATATATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp1 HG04204.hp1 others(1): Show HG00423.hp1 HG02615.hp1 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0116 a0001c0001t0001g0232	4	94	0.0426	19	c.-38 others(38): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	310	0.0032	19	c.-39 others(38): Show c.-39+38163_-39+38164insCTTTTCTTTTCTTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(12): Show ACCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02559.hp1 HG02922.hp1 HG00438.hp2 HG02559.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020	3	346	0.0087	19	c.-30 others(30): Show c.-3057_-3056insCCTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG02698.hp1 others(1): Show HG00735.hp1 HG01258.hp1 HG02698.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0115 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0115 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0046	4	31	0.1290	19	c.-30 others(30): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA6_chr1_234368456_234390080	234377133	T T	TTTTTTTT others(12): Show TTTTTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	179	0.0056	19	c.372 others(36): Show c.372+2746_372+2747insTTTTTTTGTTGTTGTTGTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234377133	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	179	0.0056	19	c.372 others(36): Show c.372+2746_372+2747insTTTTTTTTTTGTTGTTGTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164687221	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0034 a0001c0001t0033 a0001c0002t0034	a0001c0001t0033g0058 a0001c0002t0034g0040 a0001c0001t0033g0058 a0001c0002t0034g0040	2	210	0.0095	19	c.330 others(38): Show c.3301-1190_3301-1189insTAAAAAAAAAAAAAAAAAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	13/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02451.hp1 others(4): Show HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0029 a0001c0005 a0001c0008 a0001c0029	a0001c0005t0008 a0001c0008t0004 a0001c0029t0003 a0001c0005t0008 a0001c0008t0004 a0001c0029t0003	a0001c0005t0008g0166 a0001c0008t0004g0001 a0001c0008t0004g0103 others(3): Show a0001c0005t0008g0166 a0001c0008t0004g0001 a0001c0008t0004g0103 a0001c0008t0004g0104 a0001c0008t0004g0107 a0001c0029t0003g0169	7	90	0.0778	19	c.958 others(38): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	62	0.0161	19	c.52 others(30): Show c.5262_*5263insAAAAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0052 a0002c0001t0001g0052	1	7	0.1429	19	c.273 others(34): Show c.2730-85_2730-67dupAAAAAAAAAAAAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG3_chr13_45459939_45541701	45486339	C C	CGGGAGAC others(12): Show CGGGAGACGGGAGACGGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02559.hp1 HG00558.hp2 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0317 a0001c0002t0001g0277 a0001c0002t0001g0317	2	166	0.0120	19	c.844 others(34): Show c.844-150_844-149insCGGGAGACGGAGAGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03486.hp2 HG02559.hp2 HG02630.hp2 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0015 a0003c0006t0004 a0003c0006t0015	a0003c0006t0004g0193 a0003c0006t0004g0199 a0003c0006t0015g0200 a0003c0006t0004g0193 a0003c0006t0004g0199 a0003c0006t0015g0200	3	83	0.0361	19	c.159 others(38): Show c.1595-1611_1595-1593dupAAAAAAAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70495397	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02280.hp2 others(4): Show HG01891.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0019 others(4): Show a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0033	7	195	0.0359	19	c.164 others(36): Show c.1647+868_1647+869insTTTTTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	12/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp2 others(2): Show HG00140.hp1 HG00280.hp2 HG00733.hp2 HG01099.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0060 others(2): Show a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0210 a0001c0001t0003g0211	5	14	0.3571	19	c.-40 others(30): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG02723.hp1 others(4): Show HG01081.hp1 HG01361.hp2 HG02723.hp1 NA18612.hp2 NA18984.hp1 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0213	7	38	0.1842	19	c.182 others(38): Show c.1826+3233_1826+3251dupAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39747890	G G	GTTAAATA others(12): Show GTTAAATACTACATTTACAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19080.hp1 NA19064.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	368	0.0054	19	c.182 others(38): Show c.1827-3055_1827-3037dupTTAAATACTACATTTACAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG8_chr16_69321428_69344564	69324706	A A	ACCCAGAC others(12): Show ACCCAGACCTCCAGACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	358	0.0028	19	c.44 others(30): Show c.4481_*4499dupGGCTGTCTGGAGGTCTGGG	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding		1721		chr16	TogoVar

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