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
CNOT6_chr5_180489379_180583358	180510134	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18969.hp2 NA18966.hp1 NA18969.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0004 a0002c0004t0001 a0002c0004t0004	a0002c0004t0001g0318 a0002c0004t0004g0249 a0002c0004t0001g0318 a0002c0004t0004g0249	2	52	0.0385	-17	c.-3+ others(34): Show c.-3+15390_-3+15406delTTTTTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY4_chr7_100114634_100130508	100121116	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	251	0.0040	-17	c.119 others(34): Show c.119-1125_119-1109delTTTTTTTTTTTTTTTTT	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNST_chr1_246561456_246673595	246585663	ATATACAC others(10): Show ATATACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18522.hp1 HG00735.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0175 a0001c0001t0001g0013 a0001c0001t0001g0175	2	309	0.0065	-17	c.-51 others(34): Show c.-51-5848_-51-5832delTATACACACACACACAC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246658709	GGCCAGCA others(10): Show GGCCAGCAAGTCACTGAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02818.hp2 others(4): Show HG02451.hp2 HG02630.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03471.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0003 a0004c0004t0021 a0003c0003t0001 a0004c0004t0003 a0004c0004t0021	a0003c0003t0001g0039 a0004c0004t0003g0117 a0004c0004t0003g0182 others(4): Show a0003c0003t0001g0039 a0004c0004t0003g0117 a0004c0004t0003g0182 a0004c0004t0003g0183 a0004c0004t0003g0190 a0004c0004t0003g0191 a0004c0004t0021g0150	7	318	0.0220	-17	c.183 others(36): Show c.1837-1474_1837-1458delATGCCAGCAAGTCACTG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17443681	ATATACCT others(10): Show ATATACCTATGGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02896.hp2 others(3): Show HG02615.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 NA20300.hp1	a0004 a0008 a0011 a0004 a0008 a0011	a0004c0020 a0008c0010 a0011c0015 a0004c0020 a0008c0010 a0011c0015	a0004c0020t0005 a0008c0010t0002 a0008c0010t0004 others(1): Show a0004c0020t0005 a0008c0010t0002 a0008c0010t0004 a0011c0015t0002	a0004c0020t0005g0145 a0008c0010t0002g0206 a0008c0010t0004g0207 others(3): Show a0004c0020t0005g0145 a0008c0010t0002g0206 a0008c0010t0004g0207 a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215	6	216	0.0278	-17	c.311 others(38): Show c.3115-13842_3115-13826delTATACCTATGGTATATT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25			chr9	TogoVar
CNTN1_chr12_40687439_41077415	40795303	ACACACAC others(10): Show ACACACACACACACACAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18943.hp2 NA19091.hp2 HG01109.hp1 NA18943.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0001 a0001c0002t0027	a0001c0001t0001g0159 a0001c0002t0001g0136 a0001c0002t0027g0041 a0001c0001t0001g0159 a0001c0002t0001g0136 a0001c0002t0027g0041	3	230	0.0130	-17	c.-77 others(38): Show c.-77+102712_-77+102728delCACACACACACACACAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23			chr12	TogoVar
CNTN3_chr3_74257568_74619659	74344397	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp1 others(8): Show HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0003c0003 a0008c0022	a0001c0001t0008 a0001c0002t0002 a0001c0002t0007 others(5): Show a0001c0001t0008 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0009t0002 a0003c0003t0002 a0003c0003t0005 a0008c0022t0002	a0001c0001t0008g0001 a0001c0001t0008g0003 a0001c0002t0002g0020 others(8): Show a0001c0001t0008g0001 a0001c0001t0008g0003 a0001c0002t0002g0020 a0001c0002t0007g0015 a0001c0002t0007g0061 a0001c0002t0011g0008 a0001c0009t0002g0029 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0005g0161 a0008c0022t0002g0050	11	133	0.0827	-17	c.136 others(36): Show c.1365-7756_1365-7740delAAAAAAAAAAAAAAAAA	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2520259	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01175.hp1 others(3): Show HG00639.hp1 HG00642.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0010 a0001c0003 a0001c0004 a0001c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0010t0003	a0001c0003t0001g0045 a0001c0003t0001g0116 a0001c0003t0002g0107 others(3): Show a0001c0003t0001g0045 a0001c0003t0001g0116 a0001c0003t0002g0107 a0001c0003t0006g0040 a0001c0004t0001g0106 a0001c0010t0003g0073	6	43	0.1395	-17	c.-88 others(36): Show c.-88-51142_-88-51126delTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2570036	TGGCGGGC others(10): Show TGGCGGGCTGGCAGGATG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0009 a0009c0012t0009	a0009c0012t0009g0093 a0009c0012t0009g0093	1	116	0.0086	-17	c.-88 others(34): Show c.-88-1377_-88-1361delCGGGCTGGCAGGATGGG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2600005	CTTCTTTT others(10): Show CTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02683.hp2 HG01243.hp2 HG02486.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0008 a0001c0002t0002g0102 a0001c0003t0001g0094 a0001c0001t0003g0008 a0001c0002t0002g0102 a0001c0003t0001g0094	3	93	0.0323	-17	c.55+ others(34): Show c.55+28450_55+28466delCTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2671905	AAACAGCA others(10): Show AAACAGCAAATATTGCTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG01884.hp2 others(35): Show HG00738.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18990.hp1 NA19043.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0021 a0001c0023 a0002c0014 a0008c0028 a0009c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0001c0005t0006 a0001c0005t0009 a0001c0005t0010 a0001c0006t0004 a0001c0007t0003 a0001c0013t0007 a0001c0021t0002 a0001c0023t0004 a0002c0014t0001 a0008c0028t0001 a0009c0012t0009	a0001c0001t0002g0086 a0001c0001t0003g0008 a0001c0001t0003g0101 others(35): Show a0001c0001t0002g0086 a0001c0001t0003g0008 a0001c0001t0003g0101 a0001c0001t0004g0042 a0001c0001t0005g0054 a0001c0001t0008g0043 a0001c0001t0009g0052 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0002g0102 a0001c0002t0005g0002 a0001c0002t0005g0003 a0001c0002t0007g0009 a0001c0002t0007g0080 a0001c0002t0007g0087 a0001c0003t0001g0116 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0004t0001g0021 a0001c0004t0002g0048 a0001c0004t0006g0068 a0001c0005t0001g0091 a0001c0005t0001g0092 a0001c0005t0001g0104 a0001c0005t0006g0035 a0001c0005t0009g0090 a0001c0005t0010g0085 a0001c0006t0004g0004 a0001c0007t0003g0037 a0001c0013t0007g0056 a0001c0021t0002g0025 a0001c0023t0004g0041 a0002c0014t0001g0016 a0008c0028t0001g0023 a0009c0012t0009g0093	38	116	0.3276	-17	c.56- others(34): Show c.56-64282_56-64266delATTGCTGAACAGCAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2983213	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp2 HG01884.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0009 a0001c0024t0015 a0001c0001t0009 a0001c0024t0015	a0001c0001t0009g0052 a0001c0024t0015g0057 a0001c0001t0009g0052 a0001c0024t0015g0057	2	3	0.6667	-17	c.135 others(36): Show c.1359-5106_1359-5090delAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1386684	CTTTTTAA others(10): Show CTTTTTAAAACACATTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 NA19030.hp1 HG02809.hp1 HG02896.hp1 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0010t0001 a0001c0009t0001 a0001c0010t0001	a0001c0009t0001g0155 a0001c0010t0001g0010 a0001c0010t0001g0207 a0001c0009t0001g0155 a0001c0010t0001g0010 a0001c0010t0001g0207	3	230	0.0130	-17	c.270 others(34): Show c.2704+891_2704+907delTTAAAACACATTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146285834	GCTCCCTT others(10): Show GCTCCCTTCCCCTCCCCC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0024 a0002c0016t0004g0024	1	40	0.0250	-17	c.97+ others(36): Show c.97+168896_97+168912delCTCCCTTCCCCTCCCCC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146285869	CTCCCTTC others(10): Show CTCCCTTCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	40	0.0250	-17	c.97+ others(36): Show c.97+168912_97+168928delCTTCCCTTCCCCTCCCC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146380784	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	4	0.5000	-17	c.97+ others(36): Show c.97+263828_97+263844delTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331240	AACAGATG others(10): Show AACAGATGGATGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp1 HG02486.hp2 others(24): Show HG00735.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(20): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0020 a0001c0003t0023 a0001c0004t0003 a0001c0005t0008 a0001c0005t0022 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004 a0002c0017t0015	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0012g0034 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024 a0002c0017t0015g0037	27	40	0.6750	-17	c.347 others(38): Show c.3476-52407_3476-52391delCAGATGGATGGAATGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148402172	ACTGGATC others(10): Show ACTGGATCTTGGACAATC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03239.hp1 HG03239.hp2 others(1): Show HG03139.hp2 HG03239.hp1 HG03239.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0010 a0001c0011 others(1): Show a0001c0002 a0001c0010 a0001c0011 a0005c0007	a0001c0002t0002 a0001c0010t0002 a0001c0011t0016 others(1): Show a0001c0002t0002 a0001c0010t0002 a0001c0011t0016 a0005c0007t0017	a0001c0002t0002g0040 a0001c0010t0002g0014 a0001c0011t0016g0019 others(1): Show a0001c0002t0002g0040 a0001c0010t0002g0014 a0001c0011t0016g0019 a0005c0007t0017g0031	4	40	0.1000	-17	c.371 others(36): Show c.3716-7218_3716-7202delCTGGATCTTGGACAATC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23			chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76473844	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18979.hp2 NA18981.hp2 NA18987.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0015 a0019 a0020 a0025 a0026 a0027	a0001c0001 a0001c0004 a0001c0015 others(22): Show a0001c0001 a0001c0004 a0001c0015 a0001c0019 a0002c0002 a0002c0005 a0002c0012 a0002c0021 a0002c0026 a0003c0003 a0003c0006 a0004c0007 a0004c0010 a0005c0008 a0005c0043 a0009c0038 a0009c0044 a0011c0035 a0012c0022 a0015c0040 a0019c0041 a0020c0031 a0025c0032 a0026c0034 a0027c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0015t0004 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0024 a0002c0002t0025 a0002c0005t0002 a0002c0005t0004 a0002c0012t0008 a0002c0021t0004 a0002c0026t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0027 a0003c0006t0001 a0003c0006t0003 a0003c0006t0005 a0003c0006t0006 a0004c0007t0002 a0004c0007t0008 a0004c0007t0014 a0004c0007t0026 a0004c0010t0002 a0004c0010t0029 a0005c0008t0001 a0005c0043t0001 a0009c0038t0005 a0009c0044t0006 a0011c0035t0001 a0012c0022t0001 a0015c0040t0001 a0019c0041t0004 a0020c0031t0002 a0025c0032t0001 a0026c0034t0006 a0027c0039t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(140): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0230 a0001c0001t0002g0177 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0100 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0197 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0004g0051 a0001c0001t0004g0172 a0001c0001t0004g0191 a0001c0001t0005g0046 a0001c0001t0005g0163 a0001c0001t0005g0202 a0001c0001t0006g0052 a0001c0001t0006g0161 a0001c0001t0009g0189 a0001c0001t0010g0240 a0001c0001t0010g0250 a0001c0001t0015g0099 a0001c0001t0015g0272 a0001c0001t0017g0034 a0001c0001t0019g0183 a0001c0001t0020g0181 a0001c0004t0001g0006 a0001c0004t0001g0030 a0001c0004t0001g0074 a0001c0004t0001g0082 a0001c0004t0001g0087 a0001c0004t0001g0107 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0137 a0001c0004t0001g0155 a0001c0004t0001g0165 a0001c0004t0001g0170 a0001c0004t0001g0176 a0001c0004t0001g0222 a0001c0004t0003g0084 a0001c0004t0003g0094 a0001c0004t0003g0156 a0001c0004t0003g0213 a0001c0004t0006g0225 a0001c0015t0004g0089 a0001c0019t0001g0198 a0002c0002t0001g0125 a0002c0002t0002g0011 a0002c0002t0002g0115 a0002c0002t0002g0167 a0002c0002t0002g0182 a0002c0002t0002g0201 a0002c0002t0002g0224 a0002c0002t0004g0009 a0002c0002t0004g0079 a0002c0002t0004g0109 a0002c0002t0004g0129 a0002c0002t0004g0146 a0002c0002t0004g0207 a0002c0002t0010g0204 a0002c0002t0024g0049 a0002c0002t0025g0203 a0002c0005t0002g0010 a0002c0005t0002g0070 a0002c0005t0002g0080 a0002c0005t0002g0101 a0002c0005t0002g0187 a0002c0005t0002g0188 a0002c0005t0002g0194 a0002c0005t0002g0257 a0002c0005t0004g0072 a0002c0005t0004g0104 a0002c0005t0004g0132 a0002c0005t0004g0154 a0002c0005t0004g0173 a0002c0005t0004g0215 a0002c0012t0008g0090 a0002c0021t0004g0162 a0002c0026t0004g0007 a0003c0003t0005g0047 a0003c0003t0005g0266 a0003c0003t0007g0259 a0003c0003t0027g0237 a0003c0006t0001g0004 a0003c0006t0001g0005 a0003c0006t0001g0027 a0003c0006t0001g0044 a0003c0006t0001g0067 a0003c0006t0001g0112 a0003c0006t0001g0192 a0003c0006t0003g0134 a0003c0006t0005g0131 a0003c0006t0006g0063 a0004c0007t0002g0002 a0004c0007t0002g0199 a0004c0007t0002g0208 a0004c0007t0008g0238 a0004c0007t0014g0142 a0004c0007t0026g0073 a0004c0010t0002g0085 a0004c0010t0002g0086 a0004c0010t0002g0143 a0004c0010t0002g0186 a0004c0010t0029g0241 a0005c0008t0001g0091 a0005c0043t0001g0041 a0009c0038t0005g0261 a0009c0044t0006g0247 a0011c0035t0001g0029 a0012c0022t0001g0255 a0015c0040t0001g0267 a0019c0041t0004g0193 a0020c0031t0002g0057 a0025c0032t0001g0013 a0026c0034t0006g0209 a0027c0039t0001g0168	143	272	0.5257	-17	c.165 others(36): Show c.1656-2090_1656-2074delTTGTTTTGTTTTGTTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	3	0.3333	-17	c.207 others(38): Show c.2078-44849_2078-44833delTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124855167	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02451.hp2 others(9): Show HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02723.hp1 HG02886.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0016 a0001c0002t0019	a0001c0001t0001g0011 a0001c0001t0003g0006 a0001c0001t0003g0057 others(9): Show a0001c0001t0001g0011 a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0001t0009g0061 a0001c0001t0017g0012 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0007g0028 a0001c0002t0016g0055 a0001c0002t0019g0051	12	24	0.5000	-17	c.321 others(38): Show c.3218-10126_3218-10110delTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121092516	ATATATAT others(10): Show ATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	323	0.0031	-17	c.348 others(34): Show c.348+2120_348+2136delATATATATCTATATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092535	ATATATAT others(10): Show ATATATATTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02886.hp2 others(1): Show HG02451.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0013 a0004c0007t0001g0137 a0004c0007t0001g0140 a0004c0007t0001g0013 a0004c0007t0001g0137 a0004c0007t0001g0140	4	322	0.0124	-17	c.348 others(34): Show c.348+2138_348+2154delTATATATATCTATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COA1_chr7_43634257_43734523	43644715	TAGATAGA others(10): Show TAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(126): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0024 others(124): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0006g0377 a0002c0003t0001g0108	129	365	0.3534	-17	c.264 others(32): Show c.264+519_264+535delTATCTATCTATCTATCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164822726	ATTATATT others(10): Show ATTATATTATATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG00741.hp2 others(26): Show HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0024 a0001c0025 a0002c0030 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0029 a0001c0001t0044 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0002t0057 a0001c0010t0048 a0001c0012t0001 a0001c0024t0028 a0001c0025t0037 a0002c0030t0022 a0004c0005t0009 a0004c0005t0015	a0001c0001t0001g0075 a0001c0001t0005g0193 a0001c0001t0005g0194 others(26): Show a0001c0001t0001g0075 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0007g0062 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0029g0179 a0001c0001t0044g0173 a0001c0002t0002g0174 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0013g0182 a0001c0002t0057g0183 a0001c0010t0048g0185 a0001c0012t0001g0061 a0001c0024t0028g0192 a0001c0025t0037g0076 a0002c0030t0022g0172 a0004c0005t0009g0197 a0004c0005t0009g0198 a0004c0005t0009g0199 a0004c0005t0009g0200 a0004c0005t0015g0184	29	192	0.1510	-17	c.41+ others(34): Show c.41+18413_41+18429delATAATAATATAATATAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018904	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0046 a0002c0004t0007g0046	1	225	0.0044	-17	c.376 others(36): Show c.3769-1353_3769-1337delATATATATATATATATT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51018906	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0114 a0001c0010t0012g0114	1	188	0.0053	-17	c.376 others(36): Show c.3769-1355_3769-1339delATATATATATATATATA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51036336	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0150 a0009c0017t0001g0150	1	37	0.0270	-17	c.140 others(36): Show c.1407-5444_1407-5428delTTTTTTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51182980	GGGCTACA others(10): Show GGGCTACAGGGACGTGCT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0167 a0001c0020t0001g0167	1	228	0.0044	-17	c.783 others(34): Show c.783+1105_783+1121delAGCACGTCCCTGTAGCC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COG6_chr13_39650662_39757628	39654167	ATTTAGCT others(10): Show ATTTAGCTTTAGAGTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	368	0.0027	-17	c.-15 others(28): Show c.-1559_-1543delTTTAGCTTTAGAGTATT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		1494		chr13	TogoVar
COG6_chr13_39650662_39757628	39666577	CACTGATC others(10): Show CACTGATCTTGACATTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(78): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02486.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 a0001c0011t0003 a0001c0012t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(74): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0004g0054 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0006t0003g0045 a0001c0006t0003g0046 a0001c0011t0003g0209 a0001c0012t0003g0078 a0002c0002t0002g0343 a0002c0002t0003g0223 a0002c0002t0004g0224	81	368	0.2201	-17	c.428 others(34): Show c.428+1424_428+1440delACTGATCTTGACATTCT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	4/18			chr13	TogoVar
COL13A1_chr10_69796906_69964144	69804809	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA20905.hp1 NA18994.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0075 a0001c0002t0001g0205 a0001c0001t0002g0075 a0001c0002t0001g0205	2	4	0.5000	-17	c.294 others(34): Show c.294+2109_294+2125delAAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69936161	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00673.hp1 others(65): Show HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01516.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18942.hp1 NA18949.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19077.hp2 NA19091.hp1 NA20129.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0003c0013 a0003c0014 a0003c0023 a0004c0012 a0005c0010 a0007c0033	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0007t0003 a0001c0011t0002 a0003c0013t0001 a0003c0014t0002 a0003c0023t0004 a0004c0012t0002 a0005c0010t0002 a0007c0033t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 others(65): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0186 a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0317 a0001c0002t0002g0158 a0001c0002t0003g0236 a0001c0002t0003g0316 a0001c0002t0004g0300 a0001c0002t0004g0304 a0001c0002t0005g0240 a0001c0002t0015g0255 a0001c0003t0001g0017 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0099 a0001c0003t0002g0131 a0001c0004t0001g0228 a0001c0004t0001g0282 a0001c0004t0002g0276 a0001c0004t0002g0283 a0001c0004t0003g0235 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0248 a0001c0007t0003g0182 a0001c0011t0002g0022 a0003c0013t0001g0289 a0003c0014t0002g0028 a0003c0023t0004g0312 a0004c0012t0002g0089 a0005c0010t0002g0103 a0005c0010t0002g0105 a0007c0033t0001g0225	68	322	0.2112	-17	c.177 others(34): Show c.1771-588_1771-572delGGAAGGAAGGAAAGGAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69936170	AAGGAAGG others(10): Show AAGGAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0243 a0001c0002t0003g0243	1	322	0.0031	-17	c.177 others(34): Show c.1771-584_1771-568delGGAAGGAAAGGAAAGGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45405058	CCCCGCGC others(10): Show CCCCGCGCCCGCCCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0002 a0003c0057t0002	a0003c0057t0002g0028 a0003c0057t0002g0028	1	290	0.0034	-17	c.-17 others(26): Show c.-172_-156delCCCGCGCCCGCCCCCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		106		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490052	CCCCCACT others(10): Show CCCCCACTCCCCCCGACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG02280.hp2 others(6): Show HG00639.hp2 HG01167.hp1 HG02280.hp2 HG02622.hp2 HG02886.hp2 HG03486.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1	a0002 a0014 a0027 a0002 a0014 a0027	a0002c0012 a0002c0064 a0002c0080 others(4): Show a0002c0012 a0002c0064 a0002c0080 a0002c0081 a0002c0100 a0014c0082 a0027c0083	a0002c0012t0004 a0002c0064t0001 a0002c0080t0001 others(4): Show a0002c0012t0004 a0002c0064t0001 a0002c0080t0001 a0002c0081t0002 a0002c0100t0001 a0014c0082t0002 a0027c0083t0002	a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 others(6): Show a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 a0002c0064t0001g0040 a0002c0080t0001g0240 a0002c0081t0002g0214 a0002c0100t0001g0116 a0014c0082t0002g0085 a0027c0083t0002g0154	9	238	0.0378	-17	c.196 others(34): Show c.1960-218_1960-202delACTCCCCCCGACTCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490057	ACTCCCCC others(10): Show ACTCCCCCCGACTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0032 a0001c0061t0001g0032	1	282	0.0035	-17	c.196 others(34): Show c.1960-193_1960-177delCGACTCCCCCCTCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490082	CGACTCCC others(10): Show CGACTCCCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	282	0.0035	-17	c.196 others(34): Show c.1960-176_1960-160delTGACTCCCCCCTCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178362983	ACCCCCAC others(10): Show ACCCCCACAGCAACCCAC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	236	0.0042	-17	c.362 others(36): Show c.362-56081_362-56065delGTGGGTTGCTGTGGGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178368651	TGGCCTCC others(10): Show TGGCCTCCAGAAGCCATC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG03516.hp2 HG02622.hp2 HG02647.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0003 a0003c0004 a0001c0005 a0002c0003 a0003c0004	a0001c0005t0001 a0002c0003t0001 a0003c0004t0003 a0001c0005t0001 a0002c0003t0001 a0003c0004t0003	a0001c0005t0001g0007 a0002c0003t0001g0152 a0003c0004t0003g0010 a0001c0005t0001g0007 a0002c0003t0001g0152 a0003c0004t0003g0010	3	236	0.0127	-17	c.362 others(36): Show c.362-61749_362-61733delGATGGCTTCTGGAGGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178368669	GGCCTCCA others(10): Show GGCCTCCAGAAGCCGTCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0062 a0004c0006t0003g0062	1	236	0.0042	-17	c.362 others(36): Show c.362-61767_362-61751delTGACGGCTTCTGGAGGC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178420441	TCCTCCTC others(10): Show TCCTCCTCCCCTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04199.hp2 HG01891.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0174 a0002c0003t0002g0112 a0001c0001t0004g0174 a0002c0003t0002g0112	2	236	0.0085	-17	c.362 others(38): Show c.362-113539_362-113523delGTGGGGAGGGGAGGAGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	86097505	TCCTCCTC others(10): Show TCCTCCTCCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01074.hp1 others(68): Show HG00642.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG03098.hp2 HG03516.hp2 HG03654.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19082.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0015 a0016 a0018 a0019 a0022 a0023 a0024 a0025 a0027 a0028 a0030 a0035 a0042 a0043 a0044 a0046 a0047 a0049	a0001c0001 a0001c0005 a0002c0007 others(30): Show a0001c0001 a0001c0005 a0002c0007 a0002c0016 a0002c0024 a0003c0003 a0003c0011 a0004c0002 a0005c0004 a0005c0013 a0005c0072 a0007c0010 a0007c0014 a0010c0009 a0015c0059 a0015c0060 a0016c0029 a0018c0025 a0019c0038 a0022c0033 a0023c0026 a0024c0021 a0025c0030 a0027c0036 a0028c0045 a0030c0070 a0035c0075 a0042c0050 a0043c0035 a0044c0078 a0046c0077 a0047c0073 a0049c0037	a0001c0001t0001 a0001c0005t0002 a0002c0007t0002 others(39): Show a0001c0001t0001 a0001c0005t0002 a0002c0007t0002 a0002c0016t0005 a0002c0016t0006 a0002c0024t0005 a0003c0003t0002 a0003c0003t0004 a0003c0011t0001 a0003c0011t0002 a0004c0002t0001 a0004c0002t0007 a0005c0004t0001 a0005c0004t0002 a0005c0013t0002 a0005c0013t0003 a0005c0072t0001 a0007c0010t0003 a0007c0014t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0003 a0015c0059t0002 a0015c0060t0002 a0016c0029t0001 a0018c0025t0004 a0019c0038t0002 a0022c0033t0001 a0023c0026t0001 a0024c0021t0001 a0025c0030t0002 a0025c0030t0006 a0027c0036t0001 a0028c0045t0005 a0030c0070t0002 a0035c0075t0008 a0042c0050t0001 a0043c0035t0015 a0044c0078t0002 a0046c0077t0001 a0047c0073t0002 a0049c0037t0002	a0001c0001t0001g0175 a0001c0005t0002g0170 a0001c0005t0002g0187 others(68): Show a0001c0001t0001g0175 a0001c0005t0002g0170 a0001c0005t0002g0187 a0001c0005t0002g0196 a0002c0007t0002g0076 a0002c0016t0005g0012 a0002c0016t0006g0013 a0002c0024t0005g0014 a0002c0024t0005g0015 a0003c0003t0002g0141 a0003c0003t0002g0143 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0004g0131 a0003c0011t0001g0193 a0003c0011t0002g0042 a0004c0002t0001g0154 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0001g0121 a0005c0004t0001g0230 a0005c0004t0002g0041 a0005c0004t0002g0120 a0005c0004t0002g0183 a0005c0004t0002g0186 a0005c0004t0002g0188 a0005c0004t0002g0190 a0005c0004t0002g0191 a0005c0013t0002g0138 a0005c0013t0002g0163 a0005c0013t0003g0095 a0005c0072t0001g0192 a0007c0010t0003g0112 a0007c0010t0003g0200 a0007c0010t0003g0201 a0007c0010t0003g0202 a0007c0010t0003g0203 a0007c0014t0001g0204 a0010c0009t0001g0031 a0010c0009t0001g0036 a0010c0009t0001g0044 a0010c0009t0001g0045 a0010c0009t0002g0053 a0010c0009t0003g0058 a0015c0059t0002g0073 a0015c0060t0002g0071 a0016c0029t0001g0077 a0016c0029t0001g0087 a0018c0025t0004g0234 a0019c0038t0002g0023 a0022c0033t0001g0197 a0022c0033t0001g0231 a0023c0026t0001g0037 a0023c0026t0001g0046 a0024c0021t0001g0021 a0024c0021t0001g0022 a0025c0030t0002g0081 a0025c0030t0006g0003 a0027c0036t0001g0024 a0028c0045t0005g0008 a0030c0070t0002g0205 a0035c0075t0008g0217 a0042c0050t0001g0052 a0043c0035t0015g0029 a0044c0078t0002g0237 a0046c0077t0001g0198 a0047c0073t0002g0178 a0049c0037t0002g0020	71	228	0.3114	-17	c.160 others(36): Show c.1600-5202_1600-5186delGAGGAGGAGGGAGGAGG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108990234	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	125	0.0080	-17	c.439 others(36): Show c.439-15692_439-15676delATATATATATATTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101388869	TTTTTCTT others(10): Show TTTTTCTTTTCAGCCTTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0088 a0001c0005t0008g0088	1	172	0.0058	-17	c.158 others(36): Show c.158+25680_158+25696delTTTTCTTTTCAGCCTTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463890	TTTCTTTC others(10): Show TTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0001 a0001c0002t0020g0001	1	172	0.0058	-17	c.385 others(36): Show c.385+16106_385+16122delCTTTCTTTCTTTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7442862	CCATCTCT others(10): Show CCATCTCTACTAAAAATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02886.hp2 others(4): Show HG02486.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp2 NA18968.hp2	a0003 a0007 a0024 a0003 a0007 a0024	a0003c0047 a0007c0010 a0007c0044 others(1): Show a0003c0047 a0007c0010 a0007c0044 a0024c0050	a0003c0047t0001 a0007c0010t0001 a0007c0010t0002 others(2): Show a0003c0047t0001 a0007c0010t0001 a0007c0010t0002 a0007c0044t0001 a0024c0050t0001	a0003c0047t0001g0045 a0007c0010t0001g0044 a0007c0010t0002g0043 others(4): Show a0003c0047t0001g0045 a0007c0010t0001g0044 a0007c0010t0002g0043 a0007c0010t0002g0092 a0007c0010t0002g0105 a0007c0044t0001g0039 a0024c0050t0001g0190	7	194	0.0361	-17	c.165 others(34): Show c.1650+706_1650+722delTATTTTTAGTAGAGATG	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	20/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188997012	TATATATA others(10): Show TATATATATATATGAGAC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18954.hp2 NA19000.hp2 NA18747.hp1 NA18954.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0072 a0001c0001t0001g0163 a0001c0001t0001g0164	3	374	0.0080	-17	c.176 others(34): Show c.1762-142_1762-126delATGAGACATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110230320	ATGTGCAT others(10): Show ATGTGCATGCACGTGATG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp2 NA18953.hp1 NA18957.hp2	a0002 a0006 a0002 a0006	a0002c0024 a0006c0042 a0002c0024 a0006c0042	a0002c0024t0002 a0006c0042t0002 a0002c0024t0002 a0006c0042t0002	a0002c0024t0002g0275 a0006c0042t0002g0276 a0002c0024t0002g0275 a0006c0042t0002g0276	2	342	0.0058	-17	c.144 others(36): Show c.144+12338_144+12354delCATCACGTGCATGCACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253310	ATTACATA others(10): Show ATTACATATACATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02145.hp2 others(15): Show HG00280.hp2 HG00323.hp1 HG02145.hp2 HG02300.hp2 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG04204.hp2 NA18974.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0001c0010 a0001c0013 others(13): Show a0001c0007 a0001c0010 a0001c0013 a0001c0016 a0001c0020 a0001c0059 a0002c0015 a0002c0031 a0002c0039 a0002c0093 a0003c0012 a0003c0045 a0003c0081 a0004c0005 a0004c0017 a0004c0022	a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 others(13): Show a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0016t0003 a0001c0020t0001 a0001c0059t0001 a0002c0015t0001 a0002c0031t0001 a0002c0039t0002 a0002c0093t0003 a0003c0012t0001 a0003c0045t0002 a0003c0081t0009 a0004c0005t0001 a0004c0017t0001 a0004c0022t0001	a0001c0007t0001g0048 a0001c0010t0001g0148 a0001c0013t0001g0052 others(14): Show a0001c0007t0001g0048 a0001c0010t0001g0148 a0001c0013t0001g0052 a0001c0016t0003g0002 a0001c0016t0003g0109 a0001c0020t0001g0110 a0001c0059t0001g0091 a0002c0015t0001g0197 a0002c0031t0001g0252 a0002c0039t0002g0300 a0002c0093t0003g0215 a0003c0012t0001g0178 a0003c0045t0002g0303 a0003c0081t0009g0181 a0004c0005t0001g0113 a0004c0017t0001g0093 a0004c0022t0001g0014	18	342	0.0526	-17	c.85- others(34): Show c.85-10593_85-10577delATTATATGTATATGTAA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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