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
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(9): Show TACAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	372	0.0027	16	c.232 others(33): Show c.2325-165_2325-164insTTTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	372	0.0027	16	c.111 others(33): Show c.1113+220_1113+221insTATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569177	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01243.hp2 others(19): Show HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0009 a0001c0003t0003g0294 others(16): Show a0001c0003t0003g0001 a0001c0003t0003g0009 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0299 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0312 a0001c0003t0003g0313	22	372	0.0591	16	c.111 others(33): Show c.1113+211_1113+212insGTATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	372	0.0027	16	c.111 others(33): Show c.1113+207_1113+208insGTGTGTGTGTGTGTAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108580436	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	372	0.0027	16	c.550 others(31): Show c.550-764_550-749dupGTGTGTGTGTGTGTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	5/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108594051	T T	TTCTCATG others(9): Show TTCTCATGCTAAAAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	372	0.0027	16	c.-46 others(27): Show c.-4677_-4676insGCTTTTTAGCATGAGA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding		4614		chr3	TogoVar
CIRBP_chr19_1264332_1279810	1275917	C C	CCCCTCCC others(9): Show CCCCTCCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	280	0.0036	16	c.34 others(27): Show c.3474_*3475insCCCTCCCTCCCTCCCT	CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding		1108		chr19	TogoVar
CIRBP_chr19_1264332_1279810	1275927	C C	CCTCCCTC others(9): Show CCTCCCTCCCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	280	0.0036	16	c.34 others(27): Show c.3484_*3485insCTCCCTCCCTCCCTCT	CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding		1118		chr19	TogoVar
CITED4_chr1_40856054_40867363	40859674	C C	CTGTCCTA others(9): Show CTGTCCTAGCACTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(163): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0011 a0012	a0002c0002 a0002c0011 a0005c0006 others(3): Show a0002c0002 a0002c0011 a0005c0006 a0006c0007 a0011c0012 a0012c0010	a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 others(7): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0011t0002 a0005c0006t0002 a0006c0007t0002 a0011c0012t0002 a0012c0010t0002	a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0008g0000 others(7): Show a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0008g0000 a0002c0002t0009g0000 a0002c0002t0010g0000 a0002c0011t0002g0000 a0005c0006t0002g0000 a0006c0007t0002g0000 a0011c0012t0002g0000 a0012c0010t0002g0000	166	440	0.3773	16	c.18 others(27): Show c.1898_*1899insAGACAGTGCTAGGACA	CITED4	ENSG00000179862.7	transcript	ENST00000372638.4	protein_coding		1379		chr1	TogoVar
CIT_chr12_119680791_119882320	119726011	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG03130.hp1 others(5): Show HG02630.hp1 HG02717.hp1 HG03130.hp1 HG03453.hp1 HG03486.hp2 NA18971.hp1 NA18982.hp2 NA19043.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0006 a0001c0009 a0004c0019 others(1): Show a0001c0006 a0001c0009 a0004c0019 a0009c0034	a0001c0006t0001 a0001c0006t0027 a0001c0009t0009 others(2): Show a0001c0006t0001 a0001c0006t0027 a0001c0009t0009 a0004c0019t0003 a0009c0034t0001	a0001c0006t0001g0132 a0001c0006t0001g0136 a0001c0006t0027g0234 others(5): Show a0001c0006t0001g0132 a0001c0006t0001g0136 a0001c0006t0027g0234 a0001c0009t0009g0039 a0001c0009t0009g0043 a0004c0019t0003g0002 a0004c0019t0003g0231 a0009c0034t0001g0028	8	236	0.0339	16	c.359 others(35): Show c.3591+2475_3591+2490dupACACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	28/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119745374	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19030.hp2 HG01258.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0175 a0001c0001t0001g0019 a0001c0001t0001g0175	2	236	0.0085	16	c.290 others(35): Show c.2905-2926_2905-2911dupTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	23/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119862808	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19079.hp1 HG01515.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0156 a0001c0002t0002g0090 a0001c0002t0002g0156	2	236	0.0085	16	c.239 others(33): Show c.239-5126_239-5111dupTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	3/47			chr12	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0134 a0001c0004t0006g0134	1	300	0.0033	16	c.46 others(27): Show c.4653_*4654insCACACACACATATATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATATGT others(9): Show ATATATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01258.hp2 others(17): Show HG01109.hp1 HG01123.hp2 HG01258.hp2 HG01943.hp1 HG02055.hp2 HG02257.hp2 HG02717.hp2 HG02970.hp2 HG03471.hp1 HG03490.hp2 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18946.hp2 NA18991.hp1 NA19064.hp2 NA19083.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0006c0008 a0011c0015	a0001c0001t0003 a0001c0013t0012 a0002c0002t0002 others(3): Show a0001c0001t0003 a0001c0013t0012 a0002c0002t0002 a0002c0002t0007 a0006c0008t0002 a0011c0015t0015	a0001c0001t0003g0194 a0001c0013t0012g0025 a0002c0002t0002g0001 others(10): Show a0001c0001t0003g0194 a0001c0013t0012g0025 a0002c0002t0002g0001 a0002c0002t0002g0014 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0146 a0002c0002t0007g0004 a0006c0008t0002g0186 a0006c0008t0002g0188 a0006c0008t0002g0189 a0011c0015t0015g0184 a0011c0015t0015g0185	20	300	0.0667	16	c.46 others(27): Show c.4653_*4654insCACACACACACATATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01978.hp2 HG02055.hp1 others(5): Show HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02622.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03688.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0013 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0002 a0003c0003t0009	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0131 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0013g0022 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0176 a0003c0003t0009g0108	8	300	0.0267	16	c.46 others(27): Show c.4653_*4654insCACACACACACACATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0027 a0001c0010t0011g0027	1	300	0.0033	16	c.46 others(27): Show c.4638_*4653dupCACACACACACACACA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2_chr13_52450478_52481627	52465946	C C	CACATATA others(9): Show CACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG01074.hp2 HG01891.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0206 a0006c0008t0001g0207 a0006c0008t0001g0206 a0006c0008t0001g0207	2	406	0.0049	16	c.147 others(33): Show c.1476+482_1476+483insCATATATATACACATA	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01515.hp1 HG01943.hp2 others(2): Show HG01256.hp2 HG01515.hp1 HG01943.hp2 HG03491.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0018	a0001c0002t0002 a0001c0003t0002 a0001c0004t0039 others(2): Show a0001c0002t0002 a0001c0003t0002 a0001c0004t0039 a0001c0010t0029 a0001c0018t0032	a0001c0002t0002g0079 a0001c0003t0002g0010 a0001c0004t0039g0123 others(2): Show a0001c0002t0002g0079 a0001c0003t0002g0010 a0001c0004t0039g0123 a0001c0010t0029g0099 a0001c0018t0032g0105	5	418	0.0120	16	c.14 others(27): Show c.1497_*1498insTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03704.hp1 NA18955.hp2 others(3): Show HG01192.hp2 HG03704.hp1 NA18955.hp2 NA18977.hp2 NA19063.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 others(3): Show a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0091	6	294	0.0204	16	c.513 others(33): Show c.5133+441_5133+442insGTGTGTGTGTATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 NA18962.hp1 others(1): Show HG03471.hp1 HG03579.hp1 NA18962.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0001g0267 a0001c0001t0002g0050 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0267 a0001c0001t0002g0050 a0001c0001t0002g0089	4	294	0.0136	16	c.513 others(33): Show c.5133+441_5133+442insGTGTGTGTATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp2 homoSapiens_chm13v2.hp1 HG02145.hp1 HG03516.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0240 a0001c0001t0002g0071 a0001c0001t0009g0247 a0001c0001t0001g0240 a0001c0001t0002g0071 a0001c0001t0009g0247	3	294	0.0102	16	c.513 others(33): Show c.5133+441_5133+442insGTGTGTATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0274 a0001c0002t0003g0274	1	294	0.0034	16	c.513 others(33): Show c.5133+441_5133+442insGTGTATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46802553	G G	GAGACACA others(9): Show GAGACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	294	0.0034	16	c.979 others(33): Show c.979-1250_979-1249insGTGTGTGTGTGTGTCT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	8/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46802557	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0275 a0001c0002t0003g0275	1	294	0.0034	16	c.979 others(33): Show c.979-1269_979-1254dupGTGTGTGTGTGTGTGT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	8/43			chr11	TogoVar
CKLF_chr16_66547576_66571068	66566827	T T	TAAATGAG others(9): Show TAAATGAGATGGCGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0088 a0001c0001t0001g0003 a0001c0001t0001g0088	5	392	0.0128	16	c.81 others(25): Show c.816_*817insAAATGAGATGGCGATC	CKLF	ENSG00000217555.13	transcript	ENST00000264001.9	protein_coding		760		chr16	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02258.hp2 others(4): Show HG01099.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02965.hp1 HG03491.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0045 a0001c0001t0002g0236 others(4): Show a0001c0001t0001g0199 a0001c0001t0002g0045 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0263	7	356	0.0197	16	c.-20 others(31): Show c.-20-149_-20-134dupCACACACACACACACA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP1_chr2_121332776_121654462	121339131	C C	CCACACAC others(9): Show CCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0017 a0001c0001t0075g0017	1	214	0.0047	16	c.17 others(27): Show c.1714_*1729dupTGTGTGTGTGTGTGTG	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	41/41	1729		chr2	TogoVar
CLASP1_chr2_121332776_121654462	121495328	C C	CATAAATA others(9): Show CATAAATAAATAAATGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(131): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19083.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0003c0005 a0004c0004 a0006c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 others(59): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0044 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0001t0067 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0081 a0001c0001t0082 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0001c0002t0046 a0001c0002t0047 a0001c0002t0050 a0001c0002t0052 a0001c0002t0055 a0001c0002t0056 a0001c0002t0060 a0001c0002t0061 a0001c0002t0065 a0001c0002t0066 a0001c0002t0069 a0001c0002t0070 a0001c0002t0072 a0001c0002t0073 a0001c0006t0057 a0001c0009t0076 a0002c0003t0032 a0002c0003t0033 a0003c0005t0002 a0003c0005t0007 a0004c0004t0013 a0004c0004t0015 a0006c0007t0063	a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 others(131): Show a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0025g0006 a0001c0001t0025g0008 a0001c0001t0027g0098 a0001c0001t0027g0099 a0001c0001t0034g0118 a0001c0001t0034g0125 a0001c0001t0035g0102 a0001c0001t0035g0128 a0001c0001t0037g0002 a0001c0001t0044g0005 a0001c0001t0049g0011 a0001c0001t0058g0010 a0001c0001t0059g0009 a0001c0001t0064g0007 a0001c0001t0067g0018 a0001c0001t0071g0100 a0001c0001t0074g0024 a0001c0001t0075g0017 a0001c0001t0081g0104 a0001c0001t0082g0108 a0001c0002t0005g0145 a0001c0002t0005g0146 a0001c0002t0005g0147 a0001c0002t0005g0148 a0001c0002t0005g0159 a0001c0002t0005g0160 a0001c0002t0005g0193 a0001c0002t0006g0162 a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0165 a0001c0002t0006g0166 a0001c0002t0006g0168 a0001c0002t0006g0169 a0001c0002t0008g0195 a0001c0002t0008g0196 a0001c0002t0008g0197 a0001c0002t0008g0198 a0001c0002t0008g0199 a0001c0002t0008g0200 a0001c0002t0009g0155 a0001c0002t0009g0177 a0001c0002t0009g0178 a0001c0002t0009g0187 a0001c0002t0009g0188 a0001c0002t0009g0189 a0001c0002t0010g0180 a0001c0002t0010g0183 a0001c0002t0010g0184 a0001c0002t0010g0190 a0001c0002t0010g0192 a0001c0002t0010g0203 a0001c0002t0011g0137 a0001c0002t0011g0138 a0001c0002t0011g0172 a0001c0002t0011g0176 a0001c0002t0011g0182 a0001c0002t0013g0131 a0001c0002t0013g0132 a0001c0002t0013g0133 a0001c0002t0013g0134 a0001c0002t0014g0020 a0001c0002t0014g0021 a0001c0002t0014g0022 a0001c0002t0014g0023 a0001c0002t0015g0143 a0001c0002t0015g0144 a0001c0002t0015g0212 a0001c0002t0016g0181 a0001c0002t0016g0186 a0001c0002t0016g0191 a0001c0002t0017g0202 a0001c0002t0017g0204 a0001c0002t0017g0205 a0001c0002t0019g0174 a0001c0002t0019g0175 a0001c0002t0021g0130 a0001c0002t0021g0206 a0001c0002t0024g0135 a0001c0002t0024g0136 a0001c0002t0029g0201 a0001c0002t0029g0209 a0001c0002t0030g0140 a0001c0002t0030g0142 a0001c0002t0038g0210 a0001c0002t0039g0139 a0001c0002t0040g0153 a0001c0002t0042g0158 a0001c0002t0043g0173 a0001c0002t0046g0194 a0001c0002t0047g0179 a0001c0002t0050g0004 a0001c0002t0052g0167 a0001c0002t0055g0149 a0001c0002t0056g0151 a0001c0002t0060g0154 a0001c0002t0061g0019 a0001c0002t0065g0150 a0001c0002t0066g0161 a0001c0002t0069g0185 a0001c0002t0070g0207 a0001c0002t0072g0213 a0001c0002t0073g0211 a0001c0006t0057g0152 a0001c0009t0076g0012 a0002c0003t0032g0141 a0002c0003t0032g0208 a0002c0003t0033g0170 a0002c0003t0033g0171 a0003c0005t0002g0114 a0003c0005t0007g0103 a0004c0004t0013g0157 a0004c0004t0015g0156 a0006c0007t0063g0016	134	214	0.6262	16	c.712 others(33): Show c.712+7838_712+7839insTCATTTATTTATTTAT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	8/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121500344	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0094 a0001c0001t0078g0094	1	214	0.0047	16	c.712 others(33): Show c.712+2807_712+2822dupCTTTCTTTCTTTCTTT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	8/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121555988	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0011 a0001c0001t0049g0011	1	214	0.0047	16	c.196 others(35): Show c.196-25679_196-25664dupAAAAAAAAAAAAAAAA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121633028	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0004 a0001c0002t0050g0004	1	214	0.0047	16	c.-28 others(37): Show c.-286+16343_-286+16344insCATATATATATATATA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33506377	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0002	1	278	0.0036	16	c.431 others(35): Show c.4317+4180_4317+4181insTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	37/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	278	0.0036	16	c.276 others(35): Show c.2764-1835_2764-1820dupTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	278	0.0036	16	c.270 others(33): Show c.2700-241_2700-226dupAAAAAAAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33667406	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02074.hp1 HG02148.hp2 others(2): Show HG02004.hp1 HG02074.hp1 HG02148.hp2 HG02630.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 a0001c0005t0008	a0001c0001t0001g0161 a0001c0001t0003g0073 a0001c0003t0007g0234 others(2): Show a0001c0001t0001g0161 a0001c0001t0003g0073 a0001c0003t0007g0234 a0001c0003t0007g0237 a0001c0005t0008g0262	5	278	0.0180	16	c.645 others(33): Show c.645-3907_645-3892dupTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33708546	A A	ATATATAT others(9): Show ATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02615.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02615.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0267 others(1): Show a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0268	4	278	0.0144	16	c.195 others(33): Show c.195+9261_195+9262insCATATATACATATATA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33713012	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp2 homoSapiens_chm13v2.hp1 HG00438.hp1 HG01952.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252	3	278	0.0108	16	c.195 others(33): Show c.195+4780_195+4795dupTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLASRP_chr19_45034045_45075956	45043195	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0282 a0002c0005t0001g0282	1	364	0.0028	16	c.99+ others(31): Show c.99+2910_99+2925dupGTGTGTGTGTGTGTGT	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLASRP_chr19_45034045_45075956	45063436	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01081.hp2 others(11): Show HG00544.hp2 HG00621.hp2 HG01081.hp2 HG01192.hp1 HG01496.hp2 HG02083.hp2 HG02602.hp2 HG03017.hp1 NA18906.hp2 NA18964.hp2 NA18973.hp1 NA19068.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0191 a0001c0001t0001g0198 others(11): Show a0001c0001t0001g0053 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0301	14	364	0.0385	16	c.906 others(31): Show c.906-564_906-549dupTTTTTTTTTTTTTTTT	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCA1_chr1_86463927_86505259	86486017	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 NA19043.hp2 others(2): Show HG03453.hp1 HG03486.hp1 NA19043.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0322 a0001c0003t0001g0135 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0322 a0001c0003t0001g0135 a0001c0003t0001g0294	5	440	0.0114	16	c.954 others(31): Show c.954+466_954+481dupAGAGAGAGAGAGAGAG	CLCA1	ENSG00000016490.16	transcript	ENST00000394711.2	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCA1_chr1_86463927_86505259	86498155	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG02451.hp1 others(6): Show HG00323.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0004 a0002c0007 others(1): Show a0001c0003 a0001c0004 a0002c0007 a0004c0014	a0001c0003t0001 a0001c0004t0001 a0002c0007t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0002c0007t0001 a0004c0014t0001	a0001c0003t0001g0057 a0001c0003t0001g0261 a0001c0004t0001g0095 others(3): Show a0001c0003t0001g0057 a0001c0003t0001g0261 a0001c0004t0001g0095 a0002c0007t0001g0012 a0002c0007t0001g0275 a0004c0014t0001g0019	9	440	0.0205	16	c.211 others(33): Show c.2114-399_2114-384dupAGGAAGGAAGGAAGGA	CLCA1	ENSG00000016490.16	transcript	ENST00000394711.2	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCA1_chr1_86463927_86505259	86498200	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	440	0.0023	16	c.211 others(33): Show c.2114-363_2114-362insGGAAGGGAGGAAGGAA	CLCA1	ENSG00000016490.16	transcript	ENST00000394711.2	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCC1_chr1_108924505_108968484	108954817	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0038 a0002c0003t0038	a0002c0003t0038g0168 a0002c0003t0038g0168	1	394	0.0025	16	c.-11 others(33): Show c.-11-4385_-11-4370dupACACACACACACACAC	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	2/12			chr1	TogoVar
CLCC1_chr1_108924505_108968484	108956874	T T	TGGGAGGC others(9): Show TGGGAGGCTGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01516.hp1 others(30): Show HG01099.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp2 NA18969.hp2 NA18990.hp2 NA19066.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0017 a0002c0003t0003 others(8): Show a0001c0001t0001 a0001c0002t0017 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0002c0003t0013 a0002c0003t0023 a0002c0003t0029 a0002c0003t0039 a0002c0005t0012 a0002c0005t0018	a0001c0001t0001g0203 a0001c0002t0017g0134 a0001c0002t0017g0228 others(20): Show a0001c0001t0001g0203 a0001c0002t0017g0134 a0001c0002t0017g0228 a0002c0003t0003g0016 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0204 a0002c0003t0003g0206 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0003t0006g0027 a0002c0003t0006g0032 a0002c0003t0006g0152 a0002c0003t0006g0175 a0002c0003t0006g0176 a0002c0003t0011g0028 a0002c0003t0013g0008 a0002c0003t0013g0211 a0002c0003t0023g0122 a0002c0003t0029g0150 a0002c0003t0039g0205 a0002c0005t0012g0030 a0002c0005t0018g0015	33	394	0.0838	16	c.-12 others(33): Show c.-12+5434_-12+5435insCGCCTCCCAGCCTCCC	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	2/12			chr1	TogoVar
CLCC1_chr1_108924505_108968484	108956882	A A	AGGGAGGC others(9): Show AGGGAGGCGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01123.hp1 others(15): Show HG00140.hp1 HG00280.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01952.hp2 HG02258.hp1 HG02572.hp2 HG02738.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG04115.hp1 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0002c0010 others(1): Show a0001c0002 a0002c0003 a0002c0010 a0005c0008	a0001c0002t0001 a0002c0003t0003 a0002c0003t0004 others(6): Show a0001c0002t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0026 a0002c0003t0027 a0002c0003t0032 a0002c0010t0008 a0005c0008t0008	a0001c0002t0001g0276 a0002c0003t0003g0232 a0002c0003t0003g0235 others(15): Show a0001c0002t0001g0276 a0002c0003t0003g0232 a0002c0003t0003g0235 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0004g0173 a0002c0003t0004g0291 a0002c0003t0008g0237 a0002c0003t0008g0238 a0002c0003t0008g0296 a0002c0003t0008g0297 a0002c0003t0008g0299 a0002c0003t0026g0293 a0002c0003t0027g0294 a0002c0003t0032g0167 a0002c0010t0008g0295 a0005c0008t0008g0298 a0005c0008t0008g0300	18	394	0.0457	16	c.-12 others(33): Show c.-12+5411_-12+5426dupCGCCTCCCCGCCTCCC	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	2/12			chr1	TogoVar
CLCN1_chr7_143311111_143357083	143320553	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0337 a0002c0005t0001g0337	1	414	0.0024	16	c.302 others(29): Show c.302-93_302-78dupCTCTCTCTCTCTCTCT	CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLCN3_chr4_169615578_169728673	169672220	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(26): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01261.hp2 HG01516.hp1 HG02155.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG03130.hp1 HG03654.hp2 HG03831.hp2 HG03927.hp1 NA18947.hp1 NA18982.hp2 NA18986.hp2 NA19012.hp1 NA19043.hp1 NA19074.hp1 NA19087.hp2 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0044 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017 a0001c0002t0041	a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0135 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0007g0215 a0001c0001t0007g0217 a0001c0001t0011g0192 a0001c0001t0012g0259 a0001c0001t0027g0223 a0001c0001t0028g0221 a0001c0001t0044g0232 a0001c0002t0002g0032 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0102 a0001c0002t0008g0206 a0001c0002t0009g0053 a0001c0002t0017g0157 a0001c0002t0041g0100	29	288	0.1007	16	c.161 others(33): Show c.161-7805_161-7790dupGATAGATAGATAGATA	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN3_chr4_169615578_169728673	169720526	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(6): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG02257.hp2 HG02559.hp2 HG02683.hp1 HG02896.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0052 a0001c0001t0007 a0001c0001t0052	a0001c0001t0007g0103 a0001c0001t0007g0212 a0001c0001t0007g0213 others(6): Show a0001c0001t0007g0103 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0217 a0001c0001t0007g0227 a0001c0001t0007g0235 a0001c0001t0052g0030	9	288	0.0313	16	c.54 others(25): Show c.547_*562dupCTCTCTCTCTCTCTCT	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	13/13	563	INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN4_chrX_10151975_10242660	10153138	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG01496.hp2 others(10): Show HG00597.hp1 HG00738.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp1 NA18956.hp1 NA18977.hp1 NA18994.hp1 NA19004.hp1 NA19062.hp1 NA19063.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0180 others(10): Show a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0001g0225 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0212 a0001c0001t0015g0203	13	264	0.0492	16	c.-42 others(27): Show c.-4237_-4236insATATATATATATATAC	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding		3836		chrX	TogoVar
CLCN4_chrX_10151975_10242660	10161124	G G	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG02647.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0046 a0001c0002t0004g0048 a0001c0002t0004g0046 a0001c0002t0004g0048	2	264	0.0076	16	c.-12 others(33): Show c.-12+2596_-12+2611dupCTCTCTCTCTCTCTCT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar

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