Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP2_chr7_146111801_148425998	148283292	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	40	0.0250	-20	c.347 others(41): Show c.3475+16170_3475+16189delAAAGAAAGAAAGGAAGGAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283300	AAAGAAAG others(13): Show AAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	40	0.0250	-20	c.347 others(41): Show c.3475+16177_3475+16196delGAAAGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148291295	TATAATAT others(13): Show TATAATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG02897.hp1 others(2): Show HG00735.hp2 HG02630.hp2 HG02897.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0019 a0001c0002 a0001c0009 a0001c0019	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0009t0019 a0001c0019t0006	a0001c0002t0001g0008 a0001c0002t0002g0013 a0001c0002t0010g0002 others(2): Show a0001c0002t0001g0008 a0001c0002t0002g0013 a0001c0002t0010g0002 a0001c0009t0019g0027 a0001c0019t0006g0015	5	40	0.1250	-20	c.347 others(41): Show c.3475+24173_3475+24192delATATATATATATATAAAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41888506	CTAAAATA others(13): Show CTAAAATAAAATAAAATAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG02083.hp1 others(7): Show HG00280.hp2 HG01175.hp2 HG02083.hp1 HG03490.hp1 HG03704.hp1 NA18949.hp2 NA18968.hp2 NA18974.hp1 NA19086.hp2 NA19090.hp2	a0004 a0011 a0028 others(2): Show a0004 a0011 a0028 a0030 a0033	a0004c0004 a0011c0037 a0011c0040 others(3): Show a0004c0004 a0011c0037 a0011c0040 a0028c0027 a0030c0035 a0033c0036	a0004c0004t0005 a0011c0037t0007 a0011c0040t0007 others(3): Show a0004c0004t0005 a0011c0037t0007 a0011c0040t0007 a0028c0027t0005 a0030c0035t0007 a0033c0036t0007	a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 others(7): Show a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 a0004c0004t0005g0032 a0004c0004t0005g0034 a0011c0037t0007g0008 a0011c0040t0007g0003 a0028c0027t0005g0033 a0030c0035t0007g0023 a0033c0036t0007g0010	10	108	0.0926	-20	c.54 others(31): Show c.5463_*5482delTTTTATTTTATTTTATTTTA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding		2029		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41900741	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG03669.hp1 HG01106.hp1 HG01516.hp1 HG03669.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0003 a0002c0002t0001 a0005c0005t0006 a0001c0001t0003 a0002c0002t0001 a0005c0005t0006	a0001c0001t0003g0100 a0002c0002t0001g0040 a0005c0005t0006g0076 a0001c0001t0003g0100 a0002c0002t0001g0040 a0005c0005t0006g0076	3	108	0.0278	-20	c.344 others(39): Show c.3443-1762_3443-1743delAAAAAAAAAAAAAAAAAAAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	21/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42133147	CAGGGTGA others(13): Show CAGGGTGACACTCGAGCAGGA	C C	upstream_gene_variant upstream_gene_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 a0009 others(8): Show a0001 a0006 a0009 a0010 a0011 a0029 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0012 a0001c0042 others(14): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0009c0008 a0010c0013 a0011c0037 a0011c0040 a0029c0045 a0030c0035 a0031c0044 a0032c0039 a0033c0036 a0034c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0009c0008t0009 a0010c0013t0003 a0011c0037t0007 a0011c0040t0007 a0029c0045t0002 a0030c0035t0007 a0031c0044t0009 a0032c0039t0014 a0033c0036t0007 a0034c0038t0002	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 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0009c0008t0009g0105 a0009c0008t0009g0106 a0009c0008t0009g0107 a0010c0013t0003g0103 a0010c0013t0003g0108 a0011c0037t0007g0008 a0011c0040t0007g0003 a0029c0045t0002g0019 a0030c0035t0007g0023 a0031c0044t0009g0094 a0032c0039t0014g0025 a0033c0036t0007g0010 a0034c0038t0002g0016	42	108	0.3889	-20	c.-40 others(31): Show c.-4073_-4054delTCCTGCTCGAGTGTCACCCT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding		3722		chr9	TogoVar
CNTNAP3_chr9_39059710_39293167	39213191	GAGAGAAG others(13): Show GAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0001 a0002c0003t0004g0001	1	4	0.2500	-20	c.391 others(39): Show c.391-19936_391-19917delTCTCTTCTCTTCTCTTCTCT	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76376907	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0163	1	274	0.0037	-20	c.390 others(39): Show c.390+21424_390+21443delGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(13): Show TTATATACATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01192.hp2 others(8): Show HG00735.hp2 HG01192.hp1 HG01192.hp2 HG01928.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG03139.hp1 HG03139.hp2 HG04228.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0002c0002t0004 a0002c0002t0028 a0002c0005t0002 a0003c0003t0006 a0003c0003t0030	a0001c0001t0001g0069 a0001c0001t0003g0236 a0001c0001t0004g0191 others(8): Show a0001c0001t0001g0069 a0001c0001t0003g0236 a0001c0001t0004g0191 a0001c0004t0001g0170 a0002c0002t0004g0207 a0002c0002t0028g0239 a0002c0005t0002g0187 a0002c0005t0002g0188 a0003c0003t0006g0045 a0003c0003t0006g0264 a0003c0003t0030g0245	11	274	0.0402	-20	c.391 others(39): Show c.391-29507_391-29488delCATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01928.hp1 HG02109.hp1 others(5): Show HG00639.hp2 HG01928.hp1 HG02109.hp1 HG02451.hp1 HG02723.hp1 HG02922.hp2 HG03195.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0003c0023 a0003c0028	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0003c0003t0005 a0003c0003t0030 a0003c0023t0007 a0003c0028t0005	a0001c0001t0001g0114 a0001c0001t0005g0163 a0001c0001t0007g0003 others(5): Show a0001c0001t0001g0114 a0001c0001t0005g0163 a0001c0001t0007g0003 a0001c0004t0001g0170 a0003c0003t0005g0266 a0003c0003t0030g0245 a0003c0023t0007g0130 a0003c0028t0005g0274	8	274	0.0292	-20	c.275 others(37): Show c.2755+503_2755+522delTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124178907	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0021 a0001c0001t0018g0021	1	64	0.0156	-20	c.83- others(37): Show c.83-42767_83-42748delATTTATTTATTTATTTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124194392	TATATATA others(13): Show TATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02970.hp2 NA18906.hp2 HG00423.hp1 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0019 a0001c0001t0004g0053 a0001c0001t0013g0041 a0001c0001t0002g0019 a0001c0001t0004g0053 a0001c0001t0013g0041	3	64	0.0469	-20	c.83- others(37): Show c.83-27307_83-27288delTATATATATATATAAATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124255524	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0041	1	64	0.0156	-20	c.381 others(39): Show c.381+13174_381+13193delAATAAAATAAAATAAAATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124322161	TAATAAAA others(13): Show TAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02698.hp1 HG03704.hp2 others(1): Show HG02293.hp2 HG02698.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0002g0027 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0002g0027 a0001c0001t0020g0014	4	64	0.0625	-20	c.381 others(39): Show c.381+79792_381+79811delAAAATAAAATAAAATAAAAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02698.hp2 HG03130.hp2 others(2): Show HG01070.hp2 HG02698.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0019 a0005c0005t0001	a0001c0001t0001g0020 a0001c0001t0004g0052 a0001c0002t0001g0016 others(2): Show a0001c0001t0001g0020 a0001c0001t0004g0052 a0001c0002t0001g0016 a0001c0002t0019g0051 a0005c0005t0001g0008	5	64	0.0781	-20	c.207 others(41): Show c.2078-44852_2078-44833delTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713303	TCTTTCTC others(13): Show TCTTTCTCTTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	64	0.0156	-20	c.207 others(41): Show c.2078-33925_2078-33906delCTTTCTCTTTCTTTCCTTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786352	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0032 a0001c0002t0010g0032	1	64	0.0156	-20	c.275 others(39): Show c.2753-3520_2753-3501delAGAAAGAAAGAAAGAAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786382	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	64	0.0156	-20	c.275 others(39): Show c.2753-3516_2753-3497delAGAAAGAAAGAAAGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860432	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG02886.hp1 others(2): Show HG01891.hp2 HG02723.hp1 HG02886.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0001g0059 others(2): Show a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0001g0059 a0001c0002t0003g0004 a0001c0002t0003g0056	5	64	0.0781	-20	c.321 others(39): Show c.3218-4854_3218-4835delTTTCCTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860452	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0014 a0001c0001t0020g0014	1	64	0.0156	-20	c.321 others(39): Show c.3218-4822_3218-4803delCTTCCTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121070384	GATATATA others(13): Show GATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02027.hp2 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0272 a0003c0003t0001g0298 a0003c0003t0001g0272 a0003c0003t0001g0298	2	330	0.0061	-20	c.-48 others(31): Show c.-4887_-4868delATATATATATATATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4570		chr9	TogoVar
COA1_chr7_43634257_43734523	43644710	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	384	0.0026	-20	c.264 others(35): Show c.264+521_264+540delTCTATCTATCTATCTATCTA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691361	GAGGGAGG others(13): Show GAGGGAGGGAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18940.hp2 HG00621.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0086 a0001c0001t0001g0113	2	384	0.0052	-20	c.-39 others(39): Show c.-39+38048_-39+38067delTCCTCCCTCCCTCCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691365	GAGGGAGG others(13): Show GAGGGAGGGAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 HG00735.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0358 a0001c0001t0001g0004 a0001c0001t0001g0358	3	384	0.0078	-20	c.-39 others(39): Show c.-39+38044_-39+38063delTCCTTCCTCCCTCCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691421	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01243.hp1 others(9): Show HG00733.hp2 HG00738.hp1 HG01243.hp1 HG01978.hp1 HG02717.hp2 HG03942.hp2 NA18947.hp2 NA18964.hp1 NA18975.hp2 NA18992.hp2 NA18998.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0061 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	12	384	0.0313	-20	c.-39 others(39): Show c.-39+37988_-39+38007delCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234377059	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	406	0.0025	-20	c.372 others(37): Show c.372+2693_372+2712delGAGAGAGAGAGAGAGAGAGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164789020	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0140 a0012c0022t0001g0140	1	212	0.0047	-20	c.42- others(37): Show c.42-45165_42-45146delGTGTGTGTGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805321	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG00621.hp1 HG02056.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0017 a0001c0001 a0016c0017	a0001c0001t0001 a0016c0017t0041 a0001c0001t0001 a0016c0017t0041	a0001c0001t0001g0090 a0016c0017t0041g0107 a0001c0001t0001g0090 a0016c0017t0041g0107	2	212	0.0094	-20	c.41+ others(37): Show c.41+35815_41+35834delTATAGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822726	ATTATATT others(13): Show ATTATATTATATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0011 a0001c0002t0004 a0001c0002t0011	a0001c0002t0004g0186 a0001c0002t0011g0201 a0001c0002t0004g0186 a0001c0002t0011g0201	2	212	0.0094	-20	c.41+ others(37): Show c.41+18410_41+18429delATAATAATAATATAATATAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51214272	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02280.hp1 HG02630.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0010 a0001c0004 a0004c0010	a0001c0004t0001 a0004c0010t0007 a0001c0004t0001 a0004c0010t0007	a0001c0004t0001g0010 a0004c0010t0007g0011 a0001c0004t0001g0010 a0004c0010t0007g0011	2	230	0.0087	-20	c.245 others(37): Show c.245+5449_245+5468delATTTATTTATTTATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192836	CCGCGCCC others(13): Show CCGCGCCCGCCCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18522.hp2 HG01891.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0183 a0002c0001t0001g0184	2	428	0.0047	-20	c.-23 others(29): Show c.-233_-214delCGCGCCCGCCCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		218		chr17	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(13): Show GCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01361.hp2 HG03098.hp2 others(8): Show HG00544.hp2 HG01361.hp2 HG03098.hp2 HG03209.hp2 HG04228.hp1 NA18940.hp2 NA18985.hp2 NA18995.hp2 NA19005.hp2 NA19066.hp2 NA19075.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0009 a0002c0001t0001g0016 others(3): Show a0002c0001t0001g0002 a0002c0001t0001g0009 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0072 a0002c0001t0001g0087	11	428	0.0257	-20	c.-21 others(29): Show c.-219_-200delCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COG3_chr13_45459939_45541701	45500088	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	342	0.0029	-20	c.148 others(39): Show c.1489-3154_1489-3135delGTGTGTATATATATATATAT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70506598	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19077.hp2 HG02165.hp1 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0080 a0001c0003t0002g0204 a0001c0003t0002g0080 a0001c0003t0002g0204	2	354	0.0057	-20	c.106 others(39): Show c.1061+1788_1061+1807delGTTTTTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39702411	ATATTAAA others(13): Show ATATTAAAACCAAGAATGGTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	370	0.0027	-20	c.128 others(39): Show c.1284+2799_1284+2818delAAACCAAGAATGGTTTATTA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39719428	AATTCTGG others(13): Show AATTCTGGAATTTTGTAATTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02451.hp1 others(5): Show HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03486.hp1 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0002 a0002c0002t0006 a0008c0010t0002 a0002c0002t0002 a0002c0002t0006 a0008c0010t0002	a0002c0002t0002g0245 a0002c0002t0002g0316 a0002c0002t0002g0317 others(5): Show a0002c0002t0002g0245 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0006g0320 a0002c0002t0006g0321 a0008c0010t0002g0247	8	370	0.0216	-20	c.141 others(35): Show c.1416+64_1416+83delTCTGGAATTTTGTAATTCAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23449380	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	272	0.0037	-20	c.169 others(37): Show c.169+3426_170-3420delTTTTATTTTATTTTATTTTA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	103027396	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01358.hp2 others(12): Show HG01081.hp2 HG01256.hp1 HG01358.hp2 HG02145.hp2 HG02896.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA18939.hp1 NA18942.hp1 NA18984.hp1 NA19057.hp1 NA19063.hp2 NA19082.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0006 a0001c0019 others(4): Show a0001c0004 a0001c0006 a0001c0019 a0002c0001 a0004c0007 a0004c0013 a0004c0021	a0001c0004t0004 a0001c0006t0010 a0001c0019t0003 others(4): Show a0001c0004t0004 a0001c0006t0010 a0001c0019t0003 a0002c0001t0001 a0004c0007t0001 a0004c0013t0001 a0004c0021t0008	a0001c0004t0004g0018 a0001c0006t0010g0180 a0001c0019t0003g0051 others(12): Show a0001c0004t0004g0018 a0001c0006t0010g0180 a0001c0019t0003g0051 a0001c0019t0003g0054 a0002c0001t0001g0154 a0004c0007t0001g0089 a0004c0007t0001g0090 a0004c0007t0001g0092 a0004c0007t0001g0093 a0004c0007t0001g0094 a0004c0007t0001g0115 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0013t0001g0107 a0004c0021t0008g0081	15	184	0.0815	-20	c.781 others(37): Show c.781-1084_781-1065delATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208166	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	206	0.0049	-20	c.-24 others(31): Show c.-2445_-2426delCACACACACACACACACAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2114		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69804809	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	324	0.0031	-20	c.294 others(37): Show c.294+2106_294+2125delAAAAAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69877691	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	324	0.0031	-20	c.436 others(35): Show c.436-346_436-327delTCTCTCTCACACACACACAC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69936082	AGGGAGGG others(13): Show AGGGAGGGAAGGAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02886.hp1 others(2): Show HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0031 a0002c0005 a0002c0008 a0002c0031	a0002c0005t0001 a0002c0008t0001 a0002c0031t0012 a0002c0005t0001 a0002c0008t0001 a0002c0031t0012	a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0005t0001g0183 others(2): Show a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0005t0001g0183 a0002c0008t0001g0005 a0002c0031t0012g0153	5	324	0.0154	-20	c.177 others(37): Show c.1771-673_1771-654delGGGAGGGAAGGAGGGAAGGG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40			chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200711	CTATTTAT others(13): Show CTATTTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0017 a0004c0009t0017	a0004c0009t0017g0002 a0004c0009t0017g0002	1	218	0.0046	-20	c.877 others(37): Show c.877+1149_877+1168delTTATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200715	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0214 a0002c0012t0002g0214	1	218	0.0046	-20	c.877 others(37): Show c.877+1181_877+1200delATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120298597	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0217 a0004c0008t0008g0217	1	218	0.0046	-20	c.431 others(39): Show c.4314+1032_4314+1051delTATATATATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL17A1_chr10_104026286_104090880	104038231	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0016 a0018 a0019 a0020 a0022 a0023 a0029	a0001c0001 a0001c0014 a0001c0024 others(29): Show a0001c0001 a0001c0014 a0001c0024 a0001c0049 a0001c0050 a0001c0052 a0001c0057 a0001c0060 a0002c0007 a0002c0018 a0002c0031 a0003c0003 a0003c0020 a0003c0058 a0004c0009 a0005c0005 a0005c0015 a0006c0019 a0007c0011 a0008c0013 a0009c0012 a0010c0028 a0010c0029 a0012c0025 a0014c0022 a0016c0059 a0018c0055 a0019c0056 a0020c0054 a0022c0048 a0023c0047 a0029c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0014t0001 a0001c0024t0001 a0001c0049t0001 a0001c0050t0001 a0001c0052t0001 a0001c0057t0001 a0001c0060t0001 a0002c0007t0001 a0002c0007t0003 a0002c0018t0001 a0002c0031t0006 a0003c0003t0001 a0003c0003t0002 a0003c0020t0001 a0003c0058t0001 a0004c0009t0001 a0004c0009t0002 a0005c0005t0001 a0005c0015t0003 a0006c0019t0001 a0007c0011t0001 a0008c0013t0001 a0009c0012t0001 a0010c0028t0001 a0010c0029t0004 a0012c0025t0001 a0014c0022t0001 a0016c0059t0001 a0018c0055t0001 a0019c0056t0001 a0020c0054t0001 a0022c0048t0001 a0023c0047t0001 a0029c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0002g0031 a0001c0001t0002g0072 a0001c0001t0010g0133 a0001c0014t0001g0065 a0001c0014t0001g0090 a0001c0014t0001g0109 a0001c0014t0001g0134 a0001c0014t0001g0135 a0001c0014t0001g0136 a0001c0024t0001g0097 a0001c0049t0001g0061 a0001c0050t0001g0098 a0001c0052t0001g0033 a0001c0057t0001g0122 a0001c0060t0001g0142 a0002c0007t0001g0025 a0002c0007t0001g0026 a0002c0007t0001g0179 a0002c0007t0001g0180 a0002c0007t0001g0181 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0276 a0002c0007t0003g0177 a0002c0018t0001g0167 a0002c0018t0001g0172 a0002c0018t0001g0186 a0002c0031t0006g0283 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0042 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0073 a0003c0003t0001g0076 a0003c0003t0001g0081 a0003c0003t0001g0084 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0002g0079 a0003c0003t0002g0112 a0003c0020t0001g0043 a0003c0020t0001g0150 a0003c0058t0001g0126 a0004c0009t0001g0022 a0004c0009t0001g0217 a0004c0009t0001g0221 a0004c0009t0001g0234 a0004c0009t0001g0243 a0004c0009t0001g0246 a0004c0009t0002g0289 a0005c0005t0001g0005 a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0001g0194 a0005c0005t0001g0199 a0005c0005t0001g0201 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0240 a0005c0015t0003g0197 a0005c0015t0003g0198 a0006c0019t0001g0178 a0006c0019t0001g0185 a0007c0011t0001g0191 a0007c0011t0001g0200 a0008c0013t0001g0183 a0008c0013t0001g0212 a0008c0013t0001g0213 a0008c0013t0001g0229 a0008c0013t0001g0231 a0008c0013t0001g0232 a0009c0012t0001g0004 a0009c0012t0001g0032 a0009c0012t0001g0146 a0009c0012t0001g0147 a0009c0012t0001g0148 a0009c0012t0001g0288 a0010c0028t0001g0254 a0010c0029t0004g0253 a0012c0025t0001g0106 a0012c0025t0001g0107 a0014c0022t0001g0210 a0014c0022t0001g0214 a0016c0059t0001g0114 a0018c0055t0001g0195 a0019c0056t0001g0063 a0020c0054t0001g0105 a0022c0048t0001g0053 a0023c0047t0001g0156 a0029c0033t0001g0242	189	336	0.5625	-20	c.307 others(37): Show c.3070+155_3070+174delGTGTGTGTGTGTGTGTGTGT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	45/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104077699	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 NA19043.hp2 HG02145.hp1 HG02922.hp1 NA19043.hp2	a0002 a0007 a0030 a0002 a0007 a0030	a0002c0023 a0007c0035 a0030c0037 a0002c0023 a0007c0035 a0030c0037	a0002c0023t0001 a0007c0035t0002 a0030c0037t0002 a0002c0023t0001 a0007c0035t0002 a0030c0037t0002	a0002c0023t0001g0286 a0007c0035t0002g0285 a0030c0037t0002g0284 a0002c0023t0001g0286 a0007c0035t0002g0285 a0030c0037t0002g0284	3	336	0.0089	-20	c.98- others(33): Show c.98-193_98-174delCAAAACAAAACAAAACAAAA	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	3/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45405307	CGCGGGGC others(13): Show CGCGGGGCTCGGCCGGGTCCT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	292	0.0034	-20	c.12- others(31): Show c.12-65_12-46delCTCGGCCGGGTCCTGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490537	CCTCCGTG others(13): Show CCTCCGTGTGCCCTCCTGGGT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0095 a0018c0095	a0018c0095t0001 a0018c0095t0001	a0018c0095t0001g0146 a0018c0095t0001g0146	1	292	0.0034	-20	c.203 others(37): Show c.2031+206_2031+225delCTGGGTCTCCGTGTGCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45508196	AGGTGGGT others(13): Show AGGTGGGTGAGTGTATGAATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0164 a0001c0025t0002g0164	1	292	0.0034	-20	c.324 others(37): Show c.3249+612_3249+631delAGTGTATGAATGGGTGGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	38/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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