Joint Open Genome and Omics Platform (JoGo)

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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
CNTNAP2_chr7_146111801_148425998	147510869	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	40	0.0250	20	c.177 others(41): Show c.1777+24830_1777+24831insTATATATATATATATATGTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635198	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0010 a0001c0013t0003 a0001c0002t0010 a0001c0013t0003	a0001c0002t0010g0002 a0001c0013t0003g0039 a0001c0002t0010g0002 a0001c0013t0003g0039	2	40	0.0500	20	c.189 others(39): Show c.1898-3905_1898-3904insATATATATATATATATGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0021 a0003c0014t0021	a0003c0014t0021g0022 a0003c0014t0021g0022	1	40	0.0250	20	c.225 others(41): Show c.2255+15741_2255+15742insCTTTCTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148136017	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0012 a0001c0018t0002g0012	1	40	0.0250	20	c.255 others(41): Show c.2555-11471_2555-11470insAAGGAAGGAAGGAAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148136017	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0016 a0001c0009 a0002c0016	a0001c0009t0019 a0002c0016t0004 a0001c0009t0019 a0002c0016t0004	a0001c0009t0019g0027 a0002c0016t0004g0024 a0001c0009t0019g0027 a0002c0016t0004g0024	2	40	0.0500	20	c.255 others(41): Show c.2555-11471_2555-11470insAAGGAAGGAAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148136017	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG02897.hp1 HG00735.hp1 HG00735.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0019 a0001c0002 a0001c0006 a0001c0019	a0001c0002t0001 a0001c0006t0014 a0001c0019t0006 a0001c0002t0001 a0001c0006t0014 a0001c0019t0006	a0001c0002t0001g0008 a0001c0006t0014g0033 a0001c0019t0006g0015 a0001c0002t0001g0008 a0001c0006t0014g0033 a0001c0019t0006g0015	3	40	0.0750	20	c.255 others(41): Show c.2555-11471_2555-11470insAAGGAAGGGAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148137679	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	40	0.0250	20	c.255 others(39): Show c.2555-9793_2555-9792insTGGAAGGAAGGAAGGAAGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148253055	T T	TAGACAGA others(13): Show TAGACAGATGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	20	c.338 others(41): Show c.3382-13978_3382-13977insAGACAGATGATAGATAGATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148297165	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp1 HG02486.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0011 a0001c0002t0010 a0001c0003t0011	a0001c0002t0010g0002 a0001c0003t0011g0023 a0001c0002t0010g0002 a0001c0003t0011g0023	2	40	0.0500	20	c.347 others(41): Show c.3475+30062_3475+30081dupGGAAGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148366036	A A	ATGCATGT others(13): Show ATGCATGTATACATGTATGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0024 a0002c0016t0004g0024	1	40	0.0250	20	c.347 others(41): Show c.3476-17604_3476-17603insACATGTATGTGTGCATGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148416487	G G	GGAATTAG others(13): Show GGAATTAGAGCCAGATGTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02897.hp1 others(6): Show HG02451.hp1 HG02486.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0008t0001 a0001c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0008t0001g0025 a0001c0015t0001g0011	9	40	0.2250	20	c.87 others(29): Show c.874_*893dupATTAGAGCCAGATGTTATGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	24/24	894	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934100	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02109.hp2 others(8): Show HG00099.hp2 HG01255.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 NA18947.hp2 NA19090.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0017 a0020 a0031	a0001c0001 a0002c0002 a0006c0007 others(3): Show a0001c0001 a0002c0002 a0006c0007 a0017c0046 a0020c0027 a0031c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0002c0002t0001 a0006c0007t0002 a0006c0007t0011 a0017c0046t0002 a0020c0027t0020 a0031c0022t0027	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0003g0093 others(8): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0003g0093 a0001c0001t0031g0098 a0002c0002t0001g0040 a0002c0002t0001g0048 a0006c0007t0002g0014 a0006c0007t0011g0017 a0017c0046t0002g0019 a0020c0027t0020g0027 a0031c0022t0027g0064	11	108	0.1019	20	c.223 others(39): Show c.2237+4124_2237+4143dupATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG02886.hp2 HG03453.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0010 a0009c0006t0010	a0009c0006t0010g0070 a0009c0006t0010g0071 a0009c0006t0010g0070 a0009c0006t0010g0071	2	108	0.0185	20	c.223 others(39): Show c.2237+4131_2237+4132insGTATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030750	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01934.hp2 HG01943.hp1 others(3): Show HG01081.hp1 HG01934.hp2 HG01943.hp1 HG03831.hp1 HG03834.hp2 homoSapiens_chm13v2.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0017 a0002c0002 a0016c0017	a0002c0002t0001 a0016c0017t0001 a0002c0002t0001 a0016c0017t0001	a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 others(3): Show a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0056 a0002c0002t0001g0063 a0016c0017t0001g0042	6	108	0.0556	20	c.391 others(39): Show c.391-17245_391-17226dupCTCTCTCTCTCTCTCTCTCT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42034186	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00735.hp1 others(21): Show HG00099.hp2 HG00558.hp1 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01952.hp2 HG01981.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG03239.hp1 HG03453.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1	a0001 a0006 a0007 others(6): Show a0001 a0006 a0007 a0011 a0017 a0019 a0029 a0031 a0032	a0001c0001 a0001c0012 a0001c0044 others(9): Show a0001c0001 a0001c0012 a0001c0044 a0006c0007 a0007c0008 a0011c0038 a0011c0041 a0017c0046 a0019c0037 a0029c0039 a0031c0022 a0032c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0044t0015 a0006c0007t0002 a0006c0007t0011 a0007c0008t0009 a0011c0038t0007 a0011c0041t0007 a0017c0046t0002 a0019c0037t0007 a0029c0039t0002 a0031c0022t0027 a0032c0036t0007	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0011 others(21): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0044t0015g0013 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0007c0008t0009g0105 a0007c0008t0009g0106 a0007c0008t0009g0107 a0011c0038t0007g0008 a0011c0041t0007g0003 a0017c0046t0002g0019 a0019c0037t0007g0010 a0029c0039t0002g0016 a0031c0022t0027g0064 a0032c0036t0007g0023	24	108	0.2222	20	c.391 others(39): Show c.391-20681_391-20662dupGATAGATAGATAGATAGATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42129325	G G	GGACTCGC others(13): Show GGACTCGCGCCGCAGCTTTCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG02109.hp2 others(5): Show HG00280.hp2 HG01175.hp2 HG02109.hp2 HG02622.hp2 HG03490.hp1 HG03704.hp1 NA19086.hp2 NA19090.hp2	a0004 a0020 a0025 others(1): Show a0004 a0020 a0025 a0036	a0004c0004 a0020c0027 a0025c0026 others(1): Show a0004c0004 a0020c0027 a0025c0026 a0036c0028	a0004c0004t0005 a0020c0027t0020 a0025c0026t0019 others(1): Show a0004c0004t0005 a0020c0027t0020 a0025c0026t0019 a0036c0028t0005	a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 others(5): Show a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 a0004c0004t0005g0032 a0004c0004t0005g0034 a0020c0027t0020g0027 a0025c0026t0019g0028 a0036c0028t0005g0033	8	108	0.0741	20	c.-23 others(29): Show c.-232_-231insAGAAAGCTGCGGCGCGAGTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/24	232		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42129325	G G	GGACTCGC others(13): Show GGACTCGCGCGGCAGCTTTCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(39): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA19090.hp1 NA20905.hp2	a0001 a0006 a0007 others(8): Show a0001 a0006 a0007 a0010 a0011 a0017 a0019 a0022 a0029 a0030 a0032	a0001c0001 a0001c0012 a0001c0043 others(14): Show a0001c0001 a0001c0012 a0001c0043 a0001c0044 a0001c0047 a0006c0007 a0006c0042 a0007c0008 a0010c0013 a0011c0038 a0011c0041 a0017c0046 a0019c0037 a0022c0040 a0029c0039 a0030c0045 a0032c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0043t0013 a0001c0044t0015 a0001c0047t0016 a0006c0007t0002 a0006c0007t0011 a0006c0042t0002 a0007c0008t0009 a0010c0013t0003 a0011c0038t0007 a0011c0041t0007 a0017c0046t0002 a0019c0037t0007 a0022c0040t0014 a0029c0039t0002 a0030c0045t0009 a0032c0036t0007	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0043t0013g0001 a0001c0044t0015g0013 a0001c0047t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0042t0002g0020 a0007c0008t0009g0105 a0007c0008t0009g0106 a0007c0008t0009g0107 a0010c0013t0003g0103 a0010c0013t0003g0108 a0011c0038t0007g0008 a0011c0041t0007g0003 a0017c0046t0002g0019 a0019c0037t0007g0010 a0022c0040t0014g0025 a0029c0039t0002g0016 a0030c0045t0009g0094 a0032c0036t0007g0023	42	108	0.3889	20	c.-23 others(29): Show c.-232_-231insAGAAAGCTGCCGCGCGAGTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/24	232		chr9	TogoVar
CNTNAP3_chr9_39059710_39293167	39231954	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0004 a0003c0001t0003 a0002c0003t0004 a0003c0001t0003	a0002c0003t0004g0001 a0003c0001t0003g0002 a0002c0003t0004g0001 a0003c0001t0003g0002	2	4	0.5000	20	c.390 others(37): Show c.390+7038_390+7039insTATATATATATATACACACA	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76436961	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG02486.hp2 others(5): Show HG01257.hp1 HG01257.hp2 HG02486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 NA19000.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0014 a0001c0001 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0002 a0002c0002t0005 a0002c0014t0006	a0001c0001t0001g0185 a0001c0001t0003g0065 a0001c0001t0003g0066 others(5): Show a0001c0001t0001g0185 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0005g0202 a0002c0002t0002g0145 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0014t0006g0269	8	274	0.0292	20	c.538 others(37): Show c.538+9368_538+9387dupATCTATCTATCTATCTATCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76436989	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG02886.hp1 others(6): Show HG00558.hp1 HG00609.hp2 HG02886.hp1 NA18968.hp1 NA19004.hp1 NA19063.hp2 NA19080.hp2 NA19083.hp2 NA19088.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0001c0004 a0003c0006 others(1): Show a0001c0001 a0001c0004 a0003c0006 a0023c0020	a0001c0001t0003 a0001c0004t0001 a0001c0004t0003 others(2): Show a0001c0001t0003 a0001c0004t0001 a0001c0004t0003 a0003c0006t0001 a0023c0020t0009	a0001c0001t0003g0022 a0001c0001t0003g0254 a0001c0004t0001g0006 others(6): Show a0001c0001t0003g0022 a0001c0001t0003g0254 a0001c0004t0001g0006 a0001c0004t0001g0030 a0001c0004t0001g0074 a0001c0004t0001g0082 a0001c0004t0003g0094 a0003c0006t0001g0067 a0023c0020t0009g0103	9	274	0.0329	20	c.538 others(37): Show c.538+9396_538+9397insTCTATCTATCTATTTATCTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76436989	C C	CTATCTAT others(13): Show CTATCTATCTATTTATCTATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 NA18991.hp1 HG00642.hp2 HG01358.hp1 NA18991.hp1	a0003 a0022 a0003 a0022	a0003c0006 a0022c0025 a0003c0006 a0022c0025	a0003c0006t0001 a0022c0025t0002 a0003c0006t0001 a0022c0025t0002	a0003c0006t0001g0004 a0003c0006t0001g0027 a0022c0025t0002g0110 a0003c0006t0001g0004 a0003c0006t0001g0027 a0022c0025t0002g0110	3	274	0.0110	20	c.538 others(37): Show c.538+9396_538+9397insTCTATTTATCTATTTATCTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76451599	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA21309.hp2 NA18522.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0018 a0003c0003t0007 a0003c0003t0018	a0003c0003t0007g0259 a0003c0003t0018g0164 a0003c0003t0007g0259 a0003c0003t0018g0164	2	274	0.0073	20	c.107 others(37): Show c.1072-893_1072-874dupGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	274	0.0037	20	c.133 others(39): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02723.hp1 HG02886.hp1 others(5): Show HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03209.hp1 HG03540.hp2 HG04184.hp2 NA19240.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0012 a0002c0042 a0003c0006 others(2): Show a0002c0012 a0002c0042 a0003c0006 a0003c0023 a0010c0016	a0002c0012t0002 a0002c0012t0008 a0002c0042t0008 others(4): Show a0002c0012t0002 a0002c0012t0008 a0002c0042t0008 a0003c0006t0001 a0003c0006t0006 a0003c0023t0007 a0010c0016t0002	a0002c0012t0002g0048 a0002c0012t0008g0242 a0002c0042t0008g0036 others(5): Show a0002c0012t0002g0048 a0002c0012t0008g0242 a0002c0042t0008g0036 a0003c0006t0001g0067 a0003c0006t0006g0205 a0003c0023t0007g0130 a0010c0016t0002g0135 a0010c0016t0002g0190	8	274	0.0292	20	c.165 others(39): Show c.1655+2974_1655+2975insTATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76496107	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20905.hp1 HG00639.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0102 a0002c0002t0002g0039 a0002c0002t0002g0102	2	274	0.0073	20	c.223 others(39): Show c.2237+1041_2237+1042insTGTGTGTGTGTGTGTGTGTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	14/23			chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76511838	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	274	0.0037	20	c.236 others(39): Show c.2366-9297_2366-9278dupGAGAGAGAGAGAGAGAGAGA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522610	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0002 a0004c0027t0002	a0004c0027t0002g0234 a0004c0027t0002g0234	1	274	0.0037	20	c.275 others(37): Show c.2755+361_2755+380dupCTTCCTTCCTTCCTTCCTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522634	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02109.hp2 others(13): Show HG01257.hp2 HG01258.hp2 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA19088.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0013 a0020	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0012 a0004c0007 a0007c0013 a0013c0033 a0020c0031	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 others(8): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0023 a0002c0005t0002 a0002c0012t0002 a0004c0007t0002 a0007c0013t0002 a0007c0013t0022 a0013c0033t0002 a0020c0031t0002	a0001c0001t0003g0254 a0001c0001t0004g0051 a0002c0002t0002g0145 others(13): Show a0001c0001t0003g0254 a0001c0001t0004g0051 a0002c0002t0002g0145 a0002c0002t0002g0157 a0002c0002t0002g0201 a0002c0002t0023g0265 a0002c0005t0002g0010 a0002c0005t0002g0080 a0002c0012t0002g0048 a0004c0007t0002g0002 a0004c0007t0002g0208 a0004c0007t0002g0211 a0007c0013t0002g0210 a0007c0013t0022g0249 a0013c0033t0002g0050 a0020c0031t0002g0057	16	274	0.0584	20	c.275 others(37): Show c.2755+380_2755+381insCTTCCTTCCTTCCTTCTTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp1 HG01257.hp1 others(4): Show HG01168.hp2 HG01255.hp1 HG01257.hp1 NA18970.hp1 NA18981.hp2 NA19007.hp1 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0001g0185 a0003c0006t0001g0005 a0003c0006t0001g0112 a0003c0006t0001g0192	7	274	0.0256	20	c.275 others(37): Show c.2755+503_2755+522dupTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02897.hp2 HG02723.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0024 a0001c0002t0007g0009 a0001c0001t0002g0024 a0001c0002t0007g0009	2	64	0.0313	20	c.82+ others(37): Show c.82+31720_82+31739dupTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655937	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0032 a0001c0002t0010g0032	1	64	0.0156	20	c.207 others(39): Show c.2077+7982_2077+7983insAAGAAAGAAAGAAAGAAAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124670133	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19000.hp1 HG01069.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0015g0036 a0001c0002t0002g0034 a0001c0001t0015g0036 a0001c0002t0002g0034	2	64	0.0313	20	c.207 others(41): Show c.2077+22201_2077+22220dupTCCTTCCTTCCTTCCTTCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124670175	T T	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 NA18906.hp1 others(1): Show HG02717.hp1 HG02897.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0002c0004t0001	a0001c0001t0002g0024 a0001c0002t0001g0062 a0001c0002t0010g0032 others(1): Show a0001c0001t0002g0024 a0001c0002t0001g0062 a0001c0002t0010g0032 a0002c0004t0001g0001	4	64	0.0625	20	c.207 others(41): Show c.2077+22220_2077+22221insTCCTTCCTTCCTTCCTCCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871281	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	64	0.0156	20	c.343 others(39): Show c.3436+1533_3436+1534insATTTATTTATTTATTTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644710	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	384	0.0026	20	c.264 others(35): Show c.264+521_264+540dupTCTATCTATCTATCTATCTA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(13): Show AGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG00280.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0248 a0001c0001t0001g0251	2	384	0.0052	20	c.264 others(35): Show c.264+510_264+511insCATCTATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644787	C C	CAGAGAGA others(13): Show CAGAGAGACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	384	0.0026	20	c.264 others(35): Show c.264+463_264+464insCTCTCTCTCTCTGTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644791	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 NA18959.hp2 HG02976.hp2 NA18522.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0172 a0001c0001t0001g0253 a0001c0001t0001g0254	3	384	0.0078	20	c.264 others(35): Show c.264+459_264+460insCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	384	0.0026	20	c.264 others(35): Show c.264+432_264+451dupCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG02004.hp2 others(9): Show HG01069.hp2 HG01192.hp1 HG02004.hp2 HG02818.hp2 HG02965.hp1 HG03139.hp2 HG03688.hp1 NA18964.hp1 NA18985.hp1 NA19058.hp1 NA19070.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123	12	384	0.0313	20	c.-38 others(39): Show c.-38-15471_-38-15452dupCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691260	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18988.hp1 HG01516.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0177 a0001c0001t0001g0193	2	384	0.0052	20	c.-39 others(39): Show c.-39+38168_-39+38169insTCTTTTCTTTTCTTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43709434	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	384	0.0026	20	c.-39 others(39): Show c.-39+19975_-39+19994dupCACACACACACACACACACA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	384	0.0026	20	c.-39 others(39): Show c.-39+19053_-39+19054insATATATATATATATATTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(13): Show ACCTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02257.hp1 others(1): Show HG01243.hp1 HG01261.hp1 HG02257.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0064	4	406	0.0099	20	c.-30 others(31): Show c.-3057_-3056insCCTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02723.hp1 HG00280.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0002c0002t0001g0046 a0001c0001t0001g0038 a0002c0002t0001g0046	2	406	0.0049	20	c.-30 others(31): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20129.hp2 HG01496.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0003 a0001c0024 a0002c0003	a0001c0024t0028 a0002c0003t0054 a0001c0024t0028 a0002c0003t0054	a0001c0024t0028g0192 a0002c0003t0054g0169 a0001c0024t0028g0192 a0002c0003t0054g0169	2	212	0.0094	20	c.662 others(37): Show c.662-2599_662-2580dupATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03490.hp2 HG01255.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0006 a0001c0001t0001 a0003c0004t0006	a0001c0001t0001g0070 a0003c0004t0006g0062 a0001c0001t0001g0070 a0003c0004t0006g0062	2	212	0.0094	20	c.42- others(37): Show c.42-45165_42-45146dupGTGTGTGTGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805337	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	212	0.0047	20	c.41+ others(37): Show c.41+35799_41+35818dupTATATATATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805337	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0193 a0001c0001t0005g0194	2	212	0.0094	20	c.41+ others(37): Show c.41+35818_41+35819insTATATATAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818769	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0019 a0001c0001t0014g0019	1	212	0.0047	20	c.41+ others(37): Show c.41+22386_41+22387insATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar

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