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
CNTNAP2_chr7_146111801_148425998	146248055	ATCGGGGC others(37): Show ATCGGGGCACAGAGATATAAGAGGCTGGGGCATGGAAATAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0003 a0001c0015t0001g0011 a0001c0001t0001g0003 a0001c0015t0001g0011	2	40	0.0500	-44	c.97+ others(63): Show c.97+131114_97+131157delTGGAAATAAGGGGTCGGGGCACAGAG ATATAAGAGGCTGGGGCA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147225890	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0007 a0002c0016t0004 a0001c0001t0007 a0002c0016t0004	a0001c0001t0007g0020 a0002c0016t0004g0024 a0001c0001t0007g0020 a0002c0016t0004g0024	2	40	0.0500	-44	c.134 others(65): Show c.1349-74239_1349-74196delGGAAAGAAGGAAGGAAGGAAAGAA GGAAGGAAAGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775320	TATTTATA others(37): Show TATTTATATATATTTATAAATATATATATTTATATATATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG03540.hp1 HG02717.hp2 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0010 a0001c0004t0005 a0001c0005t0008 a0001c0002t0010 a0001c0004t0005 a0001c0005t0008	a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0005t0008g0005 a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0005t0008g0005	3	40	0.0750	-44	c.209 others(67): Show c.2099-128242_2099-128199delTTATATATATTTATAAATATAT ATATTTATATATATTTATAAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365755	TATGTGTA others(37): Show TATGTGTATACGTGTATACATGTATGTGTATGCATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02897.hp1 others(2): Show HG02451.hp1 HG02486.hp1 HG02897.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0010t0002	a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0002t0001g0007 others(2): Show a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0010t0002g0014	5	40	0.1250	-44	c.347 others(65): Show c.3476-17885_3476-17842delACGTGTATACATGTATGTGTATGC ATGTATACATGCATGTGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365777	TATGTGTA others(37): Show TATGTGTATGCATGTATACATGCATGTGTATGCATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0021 a0003c0014t0021	a0003c0014t0021g0022 a0003c0014t0021g0022	1	40	0.0250	-44	c.347 others(65): Show c.3476-17828_3476-17785delCATGTGTATGCATGTATACATGCA TGTGTATGCATGTATACATG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365984	ACATGTGT others(37): Show ACATGTGTGTATGCATGTATGCATGTGTGTATGCATGTATGCATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	40	0.0250	-44	c.347 others(65): Show c.3476-17664_3476-17621delCATGTGTGTATGCATGTATGCATG TGTGTATGCATGTATGCATG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(37): Show TTATATACATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 NA21309.hp1 HG02559.hp1 HG03486.hp2 NA21309.hp1	a0009 a0027 a0009 a0027	a0009c0038 a0009c0044 a0027c0039 a0009c0038 a0009c0044 a0027c0039	a0009c0038t0005 a0009c0044t0006 a0027c0039t0001 a0009c0038t0005 a0009c0044t0006 a0027c0039t0001	a0009c0038t0005g0261 a0009c0044t0006g0247 a0027c0039t0001g0168 a0009c0038t0005g0261 a0009c0044t0006g0247 a0027c0039t0001g0168	3	274	0.0110	-44	c.391 others(63): Show c.391-29507_391-29464delCATATATATATATATATATATATATA TATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(37): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG02015.hp1 others(13): Show HG00738.hp1 HG01928.hp2 HG02015.hp1 HG02145.hp2 HG02155.hp2 HG02723.hp2 HG03239.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18991.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0022 a0026	a0001c0001 a0002c0002 a0002c0011 others(6): Show a0001c0001 a0002c0002 a0002c0011 a0002c0012 a0004c0010 a0004c0027 a0010c0016 a0022c0025 a0026c0034	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0011t0002 a0002c0012t0008 a0004c0010t0002 a0004c0027t0002 a0010c0016t0002 a0022c0025t0002 a0026c0034t0006	a0001c0001t0004g0051 a0002c0002t0001g0125 a0002c0002t0002g0039 others(13): Show a0001c0001t0004g0051 a0002c0002t0001g0125 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0059 a0002c0002t0002g0136 a0002c0002t0002g0212 a0002c0002t0004g0146 a0002c0002t0004g0207 a0002c0011t0002g0216 a0002c0012t0008g0090 a0004c0010t0002g0143 a0004c0027t0002g0234 a0010c0016t0002g0190 a0022c0025t0002g0110 a0026c0034t0006g0209	16	274	0.0584	-44	c.275 others(61): Show c.2755+434_2755+477delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45437888	GCACACAC others(37): Show GCACACACACACTCACTCAGACACAGGCACTCTCCTGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0104 a0009c0104	a0009c0104t0002 a0009c0104t0002	a0009c0104t0002g0003 a0009c0104t0002g0003	1	292	0.0034	-44	c.107 others(63): Show c.107-30344_107-30301delACTCACTCAGACACAGGCACTCTCCT GCACACACACACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437898	ACTCACTC others(37): Show ACTCACTCAGACACAGGCACTCTCCTGCACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02809.hp2 others(1): Show HG02257.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1	a0001 a0011 a0021 others(1): Show a0001 a0011 a0021 a0022	a0001c0002 a0011c0051 a0021c0048 others(1): Show a0001c0002 a0011c0051 a0021c0048 a0022c0049	a0001c0002t0012 a0011c0051t0001 a0021c0048t0004 others(1): Show a0001c0002t0012 a0011c0051t0001 a0021c0048t0004 a0022c0049t0004	a0001c0002t0012g0109 a0011c0051t0001g0195 a0021c0048t0004g0184 others(1): Show a0001c0002t0012g0109 a0011c0051t0001g0195 a0021c0048t0004g0184 a0022c0049t0004g0183	4	292	0.0137	-44	c.107 others(63): Show c.107-30342_107-30299delTCACTCAGACACAGGCACTCTCCTGC ACACACACACACACACTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489868	CCCCCACA others(37): Show CCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02451.hp2 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0098 a0005c0099 a0001c0098 a0005c0099	a0001c0098t0001 a0005c0099t0003 a0001c0098t0001 a0005c0099t0003	a0001c0098t0001g0007 a0005c0099t0003g0030 a0001c0098t0001g0007 a0005c0099t0003g0030	2	292	0.0069	-44	c.196 others(61): Show c.1960-367_1960-324delACCTGCCCCACACCTCCTCCCCGACTTC CCCCTCCCCCACTTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489908	ACCTGCCC others(37): Show ACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02723.hp2 others(3): Show HG01243.hp1 HG02258.hp1 HG02723.hp2 HG02818.hp2 HG03209.hp1 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0027 a0001c0054 others(2): Show a0001c0001 a0001c0027 a0001c0054 a0001c0063 a0006c0060	a0001c0001t0001 a0001c0027t0001 a0001c0054t0002 others(2): Show a0001c0001t0001 a0001c0027t0001 a0001c0054t0002 a0001c0063t0001 a0006c0060t0001	a0001c0001t0001g0191 a0001c0027t0001g0019 a0001c0027t0001g0020 others(3): Show a0001c0001t0001g0191 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0054t0002g0201 a0001c0063t0001g0144 a0006c0060t0001g0063	6	292	0.0206	-44	c.196 others(61): Show c.1960-345_1960-302delGACTTCCCCCTCCCCCACTTCCCCCTGC CCCACACCTCCTCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501915	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0083 a0001c0026t0001g0083	1	292	0.0034	-44	c.268 others(63): Show c.2684-2056_2684-2013delCTCCGCAGCCGGTCACCTCCCTCTGC AGAAGGACCCTCAGGGGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502002	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01255.hp2 others(4): Show HG00323.hp2 HG00735.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG02698.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0090 others(1): Show a0001c0001 a0001c0002 a0001c0090 a0002c0084	a0001c0001t0001 a0001c0002t0002 a0001c0090t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0090t0002 a0002c0084t0002	a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 others(4): Show a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0090t0002g0089 a0002c0084t0002g0212	7	292	0.0240	-44	c.268 others(63): Show c.2684-1987_2684-1944delAGAAGGACCCTCAGGGGCCTCCGCAG CCGGTCACCTCCCTCTGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502024	AGAAGGAC others(37): Show AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0014 a0014	a0014c0052 a0014c0052	a0014c0052t0002 a0014c0052t0002	a0014c0052t0002g0077 a0014c0052t0002g0077	1	292	0.0034	-44	c.268 others(63): Show c.2684-1977_2684-1934delTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCCGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506730	ACCCACCT others(37): Show ACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01123.hp1 others(2): Show HG00099.hp2 HG01070.hp2 HG01123.hp1 HG01515.hp2 HG03831.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0008c0016	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0008c0016t0001	a0001c0001t0001g0203 a0001c0003t0001g0221 a0001c0004t0001g0225 others(2): Show a0001c0001t0001g0203 a0001c0003t0001g0221 a0001c0004t0001g0225 a0008c0016t0001g0084 a0008c0016t0001g0209	5	292	0.0171	-44	c.321 others(61): Show c.3216+775_3217-777delTTCTAGAGCCCTCCCACCTTCCCTCTGG AACCCTCCCACCTTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506745	AGAGCCCT others(37): Show AGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(144): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0017 a0018 a0023 a0026 a0028 a0029	a0001c0001 a0001c0002 a0001c0003 others(48): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0022 a0001c0024 a0001c0027 a0001c0032 a0001c0035 a0001c0037 a0001c0038 a0001c0041 a0001c0053 a0001c0056 a0001c0061 a0001c0063 a0001c0064 a0001c0079 a0001c0081 a0001c0082 a0001c0089 a0001c0093 a0001c0098 a0002c0012 a0002c0020 a0002c0066 a0002c0067 a0002c0083 a0003c0009 a0003c0015 a0003c0046 a0003c0047 a0004c0034 a0004c0075 a0004c0078 a0005c0091 a0005c0100 a0006c0036 a0006c0058 a0006c0060 a0008c0016 a0009c0040 a0010c0014 a0011c0051 a0017c0042 a0018c0070 a0023c0068 a0026c0086 a0028c0095 a0029c0097	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0007t0002 a0001c0022t0001 a0001c0024t0001 a0001c0027t0001 a0001c0032t0001 a0001c0035t0001 a0001c0037t0001 a0001c0038t0004 a0001c0041t0001 a0001c0053t0001 a0001c0056t0001 a0001c0061t0001 a0001c0063t0001 a0001c0064t0001 a0001c0079t0001 a0001c0081t0003 a0001c0082t0008 a0001c0089t0001 a0001c0093t0001 a0001c0098t0001 a0002c0012t0004 a0002c0020t0001 a0002c0066t0010 a0002c0067t0001 a0002c0083t0001 a0003c0009t0001 a0003c0015t0001 a0003c0046t0001 a0003c0047t0001 a0004c0034t0001 a0004c0075t0001 a0004c0078t0001 a0005c0091t0001 a0005c0100t0001 a0006c0036t0001 a0006c0058t0001 a0006c0060t0001 a0008c0016t0002 a0009c0040t0001 a0010c0014t0001 a0011c0051t0001 a0017c0042t0001 a0018c0070t0001 a0023c0068t0010 a0026c0086t0002 a0028c0095t0001 a0029c0097t0001	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(144): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0002g0278 a0001c0001t0004g0129 a0001c0001t0004g0223 a0001c0001t0013g0276 a0001c0002t0001g0024 a0001c0002t0001g0095 a0001c0002t0003g0143 a0001c0002t0012g0109 a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0013 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0255 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0007t0002g0194 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0024t0001g0229 a0001c0024t0001g0256 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0041t0001g0155 a0001c0053t0001g0244 a0001c0056t0001g0044 a0001c0061t0001g0257 a0001c0063t0001g0144 a0001c0064t0001g0061 a0001c0079t0001g0042 a0001c0081t0003g0154 a0001c0082t0008g0053 a0001c0089t0001g0119 a0001c0093t0001g0251 a0001c0098t0001g0007 a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0199 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0066t0010g0066 a0002c0067t0001g0041 a0002c0083t0001g0237 a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0046t0001g0002 a0003c0047t0001g0069 a0004c0034t0001g0141 a0004c0034t0001g0282 a0004c0075t0001g0116 a0004c0078t0001g0115 a0005c0091t0001g0056 a0005c0100t0001g0039 a0006c0036t0001g0245 a0006c0058t0001g0165 a0006c0060t0001g0063 a0008c0016t0002g0252 a0009c0040t0001g0046 a0009c0040t0001g0076 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0011c0051t0001g0195 a0017c0042t0001g0118 a0018c0070t0001g0012 a0023c0068t0010g0004 a0026c0086t0002g0176 a0028c0095t0001g0146 a0029c0097t0001g0036	147	292	0.5034	-44	c.321 others(61): Show c.3217-794_3217-751delGGAACCCTCCCACCTTCCCTCTGGAGCC CTCCCACCTTCCCTCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL1A2_chr7_94389895_94436227	94397150	CCATTTTC others(37): Show CCATTTTCATAGTTAATAATGTGCAAATTAGACCTTTTGAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	438	0.0023	-44	c.71- others(57): Show c.71-597_71-554delCATTTTCATAGTTAATAATGTGCAAATTAGAC CTTTTGAAAAAG	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	1/51			chr7	TogoVar
COL23A1_chr5_178232618_178595393	178250710	TGGTGGTT others(37): Show TGGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00639.hp2 others(58): Show HG00280.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18945.hp2 NA18964.hp2 NA18971.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0022 a0003c0007 a0004c0011 a0011c0020	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0003t0001 a0002c0003t0004 a0002c0022t0009 a0003c0007t0001 a0004c0011t0001 a0011c0020t0012	a0001c0001t0001g0002 a0001c0001t0004g0063 a0001c0004t0001g0007 others(58): Show a0001c0001t0001g0002 a0001c0001t0004g0063 a0001c0004t0001g0007 a0001c0004t0001g0042 a0001c0004t0001g0070 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0009g0225 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0022t0009g0233 a0003c0007t0001g0012 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0137 a0003c0007t0001g0154 a0004c0011t0001g0093 a0011c0020t0012g0085	61	236	0.2585	-44	c.101 others(61): Show c.1015-649_1015-606delCACCTCAGCCTCCCAGAGTGCTGGGATT ACAGGTGTGAACCACC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	17/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	108808299	CTCACGCC others(37): Show CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0060 a0001c0002t0008g0060	1	130	0.0077	-44	c.55 others(55): Show c.5584_*5627delTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCGTGA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		425		chr4	TogoVar
COL4A1_chr13_110143963_110312157	110219836	GTATATAT others(37): Show GTATATATGTGTATATATATGTATATATGTGTGTGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	344	0.0029	-44	c.145 others(61): Show c.145-5865_145-5822delTACATATATACACACACATATATACATA TATATACACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219858	ATATATGT others(37): Show ATATATGTGTGTGTATATATGTATATATATGTGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0080 a0004c0005t0001g0081	2	344	0.0058	-44	c.145 others(61): Show c.145-5887_145-5844delCATATATATACACACATATATATACATA TATACACACACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041759	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0225 a0002c0002t0007g0225	1	284	0.0035	-44	c.350 others(61): Show c.3505+345_3505+388delTTTCTTTCTTTCTTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041783	GAAGGGAA others(37): Show GAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0006 a0015c0013t0006	a0015c0013t0006g0212 a0015c0013t0006g0212	1	284	0.0035	-44	c.350 others(61): Show c.3505+321_3505+364delTTTCTTTCTTTCTTTCTTTCTTCCTTTC TTTCTTTCTTTCCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134790569	CCCATCCA others(37): Show CCCATCCATCCATCCATCCATCTATCCATCCACCCACCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0187 a0001c0003t0008g0187	1	272	0.0037	-44	c.270 others(63): Show c.2700+1383_2700+1426delTATCCATCCACCCACCCATCCATCCA TCCATCCATCCATCCATC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0016 a0016	a0016c0107 a0016c0107	a0016c0107t0002 a0016c0107t0002	a0016c0107t0002g0235 a0016c0107t0002g0235	1	412	0.0024	-44	c.240 others(63): Show c.2407-1455_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981271	ACGGCGAG others(37): Show ACGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAGAGGCGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0058 a0004c0005t0001g0058	1	128	0.0078	-44	c.-57 others(53): Show c.-579_-536delCGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAG AGGCGAGT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		498		chr21	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	300	0.0033	-44	c.763 others(61): Show c.763-2323_763-2280delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COPB2_chr3_139352406_139394647	139380926	CAGAAGAA others(37): Show CAGAAGAAATAGCCAAGGTTCAACGCCATGTTAGGGGCTATGACT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	264	0.0038	-44	c.142 others(61): Show c.142-1504_142-1461delAGTCATAGCCCCTAACATGGCGTTGAAC CTTGGCTATTTCTTCT	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	2/21			chr3	TogoVar
COPG2_chr7_130501238_130673748	130513315	ATATATAT others(37): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03195.hp1 HG01891.hp2 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0322	3	326	0.0092	-44	c.215 others(63): Show c.2150-4700_2150-4657delCACACACACACACACACATATATATA TATATATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COX19_chr7_959852_980549	960469	GCGGGTGC others(37): Show GCGGGTGCTGTGGGAACTGACAGGAGCCAGGCACAGAGGGTCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	432	0.0023	-44	c.88 others(55): Show c.8865_*8908delTCCGACCCTCTGTGCCTGGCTCCTGTCAGTTCCC ACAGCACCCG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		4382		chr7	TogoVar
CPNE9_chr3_9698833_9734908	9725632	ATATACAT others(37): Show ATATACATGTATGTGTATATATGTGTATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	440	0.0023	-44	c.124 others(61): Show c.1242-312_1242-269delCATGTATGTGTATATATGTGTATATATG TATATATATGTGTATA	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0045 a0006c0010t0001g0045	1	126	0.0079	-44	c.849 others(59): Show c.849+529_849+572delTATATATATATATATATATATATATATATA TATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRACR2A_chr12_3610328_3758109	3746797	TGAAGGAC others(37): Show TGAAGGACCAACAAGGGGAGGAGTACATCTCAACAAGTTGGTTGA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	320	0.0031	-44	c.-38 others(63): Show c.-387+6174_-387+6217delTCAACCAACTTGTTGAGATGTACTCC TCCCCTTGTTGGTCCTTC	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CREM_chr10_35121846_35217953	35204487	CTACTCGG others(37): Show CTACTCGGGAGGCTGAGGCAAGAGAATCACTTGAACCAGGGAGTA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	294	0.0034	-44	c.599 others(61): Show c.599-2407_599-2364delTACTCGGGAGGCTGAGGCAAGAGAATCA CTTGAACCAGGGAGTA	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	6/7			chr10	TogoVar
CRLF2_chrX_1185490_1217649	1211852	CATGGATG others(37): Show CATGGATGGATGGATGTATTGGTAGATGGATGGGTGGATGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(60): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18965.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp2 NA19005.hp1 NA19058.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004 a0002c0005 a0002c0006 a0002c0009 a0002c0015 a0003c0014 a0003c0024 a0003c0025 a0004c0012 a0007c0026 a0010c0018 a0011c0031 a0012c0030 a0013c0023 a0014c0022 a0015c0029 a0016c0047 a0018c0033 a0019c0034 a0021c0046 a0022c0019	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0007t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0002 a0002c0009t0001 a0002c0015t0001 a0002c0015t0002 a0003c0014t0001 a0003c0024t0001 a0003c0025t0005 a0004c0012t0004 a0007c0026t0002 a0010c0018t0001 a0011c0031t0006 a0012c0030t0003 a0013c0023t0006 a0014c0022t0001 a0015c0029t0003 a0016c0047t0003 a0018c0033t0001 a0019c0034t0001 a0021c0046t0001 a0022c0019t0002	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0092 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0006g0079 a0001c0002t0002g0014 a0001c0002t0002g0022 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0116 a0001c0002t0005g0081 a0001c0002t0005g0106 a0001c0003t0001g0006 a0001c0003t0001g0015 a0001c0003t0001g0094 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0001g0124 a0001c0007t0001g0083 a0001c0007t0001g0112 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0091 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0127 a0002c0005t0001g0078 a0002c0005t0001g0118 a0002c0005t0001g0129 a0002c0005t0002g0013 a0002c0005t0002g0111 a0002c0006t0001g0097 a0002c0006t0002g0093 a0002c0006t0002g0113 a0002c0006t0002g0122 a0002c0006t0002g0123 a0002c0009t0001g0026 a0002c0009t0001g0125 a0002c0015t0001g0099 a0002c0015t0002g0012 a0003c0014t0001g0024 a0003c0024t0001g0121 a0003c0025t0005g0084 a0004c0012t0004g0128 a0004c0012t0004g0132 a0007c0026t0002g0102 a0010c0018t0001g0002 a0011c0031t0006g0100 a0012c0030t0003g0126 a0013c0023t0006g0023 a0014c0022t0001g0101 a0015c0029t0003g0025 a0016c0047t0003g0165 a0018c0033t0001g0131 a0019c0034t0001g0134 a0021c0046t0001g0164 a0022c0019t0002g0003	63	167	0.3773	-44	c.79+ others(57): Show c.79+660_79+703delCCACCCATCCACCCATCCATCTACCAATACAT CCATCCATCCAT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240984828	ACACACAC others(37): Show ACACACACCCAGGCACTCCACACACACACACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG06807.hp2 others(1): Show HG01884.hp1 HG02723.hp2 HG06807.hp2 NA19240.hp2	a0011 a0028 a0039 others(1): Show a0011 a0028 a0039 a0051	a0011c0043 a0028c0030 a0039c0090 others(1): Show a0011c0043 a0028c0030 a0039c0090 a0051c0051	a0011c0043t0001 a0028c0030t0001 a0039c0090t0001 others(1): Show a0011c0043t0001 a0028c0030t0001 a0039c0090t0001 a0051c0051t0001	a0011c0043t0001g0171 a0028c0030t0001g0025 a0039c0090t0001g0112 others(1): Show a0011c0043t0001g0171 a0028c0030t0001g0025 a0039c0090t0001g0112 a0051c0051t0001g0073	4	350	0.0114	-44	c.455 others(63): Show c.4551+1807_4551+1850delCCAGGCACTCCACACACACACACCCA GGCACTCACTCCACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBA4_chr22_26616963_26635669	26627446	CCTTCTTT others(37): Show CCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp2 others(5): Show HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG03492.hp2 NA19060.hp2 NA19070.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0137 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0177	8	402	0.0199	-44	c.301 others(59): Show c.301-841_301-798delCTTCTTTCTTTTTCTTTCTTTCTTTCTTTC TCTTTCTTTCCTTT	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5			chr22	TogoVar
CSDC2_chr22_41556010_41581666	41572367	CCCACCCA others(37): Show CCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0088 a0001c0001t0031g0088	1	288	0.0035	-44	c.176 others(59): Show c.176+230_176+273delCCCACCCACCCACCCACCCATCCATCCATC CATCCATCCATCCA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1281012	CCTCCTCC others(37): Show CCTCCTCCTCCTTCTCCTCCTCCTCATTCTCCTCCTGCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	159	0.0063	-44	c.-26 others(61): Show c.-26-1641_-26-1598delATTCTCCTCCTGCTCCCCTTCTCCTCCT CCTTCTCCTCCTCCTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1291919	ACCCTGTA others(37): Show ACCCTGTACCACCTCCACTTTACCCAGTGTAGACAGAAGGAGACC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp2 HG01106.hp1 others(23): Show HG00423.hp1 HG01070.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02683.hp2 HG02897.hp1 HG03704.hp2 HG04115.hp1 NA18954.hp1 NA18960.hp1 NA18969.hp2 NA18980.hp2 NA18982.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19062.hp1 NA19064.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0010c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0015t0003 a0002c0003t0001 a0010c0011t0010 a0012c0012t0004	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0086 others(23): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0071 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0003g0044 a0001c0001t0003g0090 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0065 a0001c0001t0004g0094 a0001c0001t0005g0155 a0001c0001t0012g0062 a0001c0001t0013g0004 a0001c0002t0001g0052 a0001c0002t0002g0112 a0001c0002t0003g0035 a0001c0002t0004g0098 a0001c0015t0003g0081 a0002c0003t0001g0147 a0010c0011t0010g0054 a0012c0012t0004g0089	26	159	0.1635	-44	c.646 others(61): Show c.646+1412_646+1455delCCTGTACCACCTCCACTTTACCCAGTGT AGACAGAAGGAGACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(37): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0183 a0001c0002t0006g0183	1	238	0.0042	-44	c.-39 others(65): Show c.-391-64960_-391-64917delCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3350184	TATAACTT others(37): Show TATAACTTGTGTATGTGTGTGTTATAATACCTATAATAACCTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00735.hp2 others(28): Show HG00099.hp2 HG00438.hp2 HG00735.hp2 HG01071.hp1 HG01123.hp2 HG01934.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19074.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0019 a0021 a0023 a0037	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0019 a0001c0071 a0001c0073 a0001c0079 a0001c0080 a0001c0081 a0001c0103 a0001c0109 a0002c0036 a0002c0037 a0002c0041 a0002c0075 a0002c0076 a0002c0077 a0003c0086 a0003c0087 a0004c0034 a0007c0083 a0019c0082 a0021c0038 a0023c0069 a0037c0009	a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 others(28): Show a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0005t0007 a0001c0006t0002 a0001c0006t0060 a0001c0019t0078 a0001c0071t0069 a0001c0073t0007 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0103t0033 a0001c0109t0038 a0002c0036t0029 a0002c0037t0009 a0002c0041t0027 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0003c0086t0002 a0003c0087t0001 a0004c0034t0030 a0007c0083t0004 a0019c0082t0052 a0021c0038t0075 a0023c0069t0043 a0037c0009t0001	a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 others(28): Show a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0103t0033g0028 a0001c0109t0038g0013 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0003c0086t0002g0118 a0003c0087t0001g0022 a0004c0034t0030g0038 a0007c0083t0004g0006 a0019c0082t0052g0097 a0021c0038t0075g0067 a0023c0069t0043g0100 a0037c0009t0001g0002	31	126	0.2460	-44	c.330 others(63): Show c.3305-2067_3305-2024delTATAGGTTATTATAGGTATTATAACA CACACATACACAAGTTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411918	GCACGTAT others(37): Show GCACGTATATATACACGTATATATGCACGTATATATACACGTATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG01243.hp1 HG02723.hp2	a0005 a0005	a0005c0064 a0005c0065 a0005c0064 a0005c0065	a0005c0064t0051 a0005c0065t0023 a0005c0064t0051 a0005c0065t0023	a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0064t0051g0078 a0005c0065t0023g0050	2	126	0.0159	-44	c.156 others(63): Show c.1562-2357_1562-2314delTATACGTGTATATATACGTGCATATA TACGTGTATATATACGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3777756	TGCAGAGT others(37): Show TGCAGAGTCTCAGTTCCCACTCCAGACCCACAGCCTCCTTGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(33): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01243.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18979.hp1 NA18983.hp1 NA19043.hp1 NA19090.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0018 a0019 a0022 a0025 a0026 a0028 a0030 a0031	a0001c0001 a0001c0004 a0001c0005 others(32): Show a0001c0001 a0001c0004 a0001c0005 a0001c0025 a0001c0026 a0001c0061 a0001c0068 a0001c0081 a0001c0093 a0001c0094 a0001c0102 a0001c0115 a0002c0015 a0002c0036 a0002c0041 a0002c0051 a0002c0072 a0002c0078 a0002c0084 a0003c0056 a0004c0034 a0004c0058 a0005c0064 a0006c0008 a0006c0067 a0007c0116 a0008c0088 a0018c0042 a0019c0082 a0022c0062 a0025c0066 a0026c0100 a0028c0044 a0030c0106 a0031c0113	a0001c0001t0039 a0001c0004t0020 a0001c0004t0063 others(33): Show a0001c0001t0039 a0001c0004t0020 a0001c0004t0063 a0001c0005t0007 a0001c0025t0003 a0001c0026t0006 a0001c0061t0001 a0001c0068t0015 a0001c0081t0037 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0115t0042 a0002c0015t0021 a0002c0036t0029 a0002c0041t0027 a0002c0051t0006 a0002c0072t0003 a0002c0078t0044 a0002c0084t0018 a0003c0056t0062 a0004c0034t0030 a0004c0058t0057 a0005c0064t0051 a0006c0008t0082 a0006c0067t0059 a0007c0116t0004 a0008c0088t0076 a0018c0042t0004 a0019c0082t0052 a0022c0062t0056 a0025c0066t0010 a0026c0100t0017 a0028c0044t0064 a0030c0106t0012 a0031c0113t0011	a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0004t0063g0095 others(33): Show a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0115t0042g0055 a0002c0015t0021g0008 a0002c0036t0029g0009 a0002c0041t0027g0018 a0002c0051t0006g0081 a0002c0072t0003g0066 a0002c0078t0044g0064 a0002c0084t0018g0087 a0003c0056t0062g0072 a0004c0034t0030g0038 a0004c0058t0057g0117 a0005c0064t0051g0078 a0006c0008t0082g0126 a0006c0067t0059g0079 a0007c0116t0004g0039 a0008c0088t0076g0057 a0018c0042t0004g0004 a0019c0082t0052g0097 a0022c0062t0056g0062 a0025c0066t0010g0032 a0026c0100t0017g0121 a0028c0044t0064g0085 a0030c0106t0012g0042 a0031c0113t0011g0043	36	126	0.2857	-44	c.819 others(63): Show c.819-23758_819-23715delGCTTCAAGGAGGCTGTGGGTCTGGAG TGGGAACTGAGACTCTGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295188	TTATGCAC others(37): Show TTATGCACATATAATCTTAAGATTTTCTATATAATCTTAAGATTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(64): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0015 a0016 a0020 a0021 a0023 a0026 a0029 a0032 a0034 a0036 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(61): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0021 a0001c0026 a0001c0033 a0001c0040 a0001c0043 a0001c0046 a0001c0047 a0001c0050 a0001c0061 a0001c0071 a0001c0080 a0001c0081 a0001c0093 a0001c0094 a0001c0108 a0001c0109 a0001c0111 a0002c0015 a0002c0022 a0002c0030 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0041 a0002c0048 a0002c0070 a0002c0075 a0002c0076 a0002c0077 a0002c0091 a0002c0092 a0003c0087 a0003c0099 a0004c0014 a0004c0058 a0005c0064 a0005c0107 a0007c0083 a0008c0029 a0008c0088 a0010c0096 a0011c0016 a0015c0063 a0016c0028 a0020c0112 a0021c0038 a0023c0069 a0026c0100 a0029c0027 a0032c0024 a0034c0055 a0036c0095 a0038c0104 a0039c0010	a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 others(63): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 a0001c0003t0013 a0001c0003t0019 a0001c0004t0020 a0001c0005t0002 a0001c0006t0002 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0026t0006 a0001c0033t0003 a0001c0040t0019 a0001c0043t0031 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0061t0001 a0001c0071t0069 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0001c0094t0002 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0070t0046 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0002c0091t0002 a0002c0092t0001 a0003c0087t0001 a0003c0099t0014 a0004c0014t0055 a0004c0058t0057 a0005c0064t0051 a0005c0107t0068 a0007c0083t0004 a0008c0029t0011 a0008c0088t0076 a0010c0096t0067 a0011c0016t0048 a0015c0063t0010 a0016c0028t0024 a0020c0112t0081 a0021c0038t0075 a0023c0069t0043 a0026c0100t0017 a0029c0027t0003 a0032c0024t0077 a0034c0055t0034 a0036c0095t0002 a0038c0104t0071 a0039c0010t0070	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(64): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0061g0069 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0005t0002g0111 a0001c0006t0002g0109 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0071t0069g0115 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0070t0046g0092 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0087t0001g0022 a0003c0099t0014g0020 a0004c0014t0055g0056 a0004c0058t0057g0117 a0005c0064t0051g0078 a0005c0107t0068g0073 a0007c0083t0004g0006 a0008c0029t0011g0054 a0008c0088t0076g0057 a0010c0096t0067g0116 a0011c0016t0048g0106 a0015c0063t0010g0045 a0016c0028t0024g0040 a0020c0112t0081g0090 a0021c0038t0075g0067 a0023c0069t0043g0100 a0026c0100t0017g0121 a0029c0027t0003g0099 a0032c0024t0077g0104 a0034c0055t0034g0047 a0036c0095t0002g0124 a0038c0104t0071g0058 a0039c0010t0070g0084	67	126	0.5318	-44	c.415 others(65): Show c.415+124721_415+124764delTAATCTTAAGATTATATAGAAAAT CTTAAGATTATATGTGCATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761868	TATCTATC others(37): Show TATCTATCTATCTATCTATCTACCTACCTATCTATCTATCTATCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0069 a0023c0069	a0023c0069t0043 a0023c0069t0043	a0023c0069t0043g0100 a0023c0069t0043g0100	1	126	0.0079	-44	c.86- others(63): Show c.86-124354_86-124311delTGATAGATAGATAGATAGGTAGGTAG ATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920902	AAAAGAAA others(37): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0020 a0001c0085t0020	a0001c0085t0020g0060 a0001c0085t0020g0060	1	126	0.0079	-44	c.85+ others(61): Show c.85+73386_85+73429delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410608	ATATATAT others(37): Show ATATATATGTATATATATGTGTATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0043 a0001c0007t0001g0043	1	80	0.0125	-44	c.539 others(63): Show c.5396-1620_5396-1577delCACATATATATATACATATATATACA CATATATATACATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542596	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp1 HG02622.hp1 others(2): Show HG00735.hp2 HG02451.hp1 HG02622.hp1 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0227 others(2): Show a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0014g0225	5	390	0.0128	-44	c.230 others(61): Show c.230+7435_230+7478delCATATATATATATATATATATATATATA TATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar

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