Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAPN9_chr1_230742388_230806989	230761555	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02622.hp2 others(7): Show HG01891.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1	a0002 a0006 a0002 a0006	a0002c0013 a0006c0010 a0002c0013 a0006c0010	a0002c0013t0001 a0006c0010t0001 a0002c0013t0001 a0006c0010t0001	a0002c0013t0001g0093 a0002c0013t0001g0361 a0006c0010t0001g0011 others(6): Show a0002c0013t0001g0093 a0002c0013t0001g0361 a0006c0010t0001g0011 a0006c0010t0001g0098 a0006c0010t0001g0099 a0006c0010t0001g0100 a0006c0010t0001g0101 a0006c0010t0001g0103 a0006c0010t0001g0238	10	319	0.0313	18	c.403 others(35): Show c.403-1081_403-1080insCACACACACACACACACA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPNS1_chr19_36135066_36155353	36141122	G G	GGGCGGCG others(11): Show GGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0036 a0006c0008t0006g0036	1	465	0.0022	18	c.128 others(25): Show c.128_129insAGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly38_Gly43dup	CAPNS1	ENSG00000126247.11	transcript	ENST00000246533.8	protein_coding	2/11	236/1428	129/807	43/268		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPSL_chr5_35899288_35943622	35919168	A A	ATTATATA others(11): Show ATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp1 HG02896.hp2 others(1): Show HG01109.hp1 HG02723.hp1 HG02896.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0054 a0002c0002t0003g0266 a0002c0002t0006g0267 a0002c0002t0003g0054 a0002c0002t0003g0266 a0002c0002t0006g0267	4	374	0.0107	18	c.137 others(35): Show c.137+1815_137+1816insATATATATATATATATAA		CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4						chr5	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 NA18952.hp1 others(1): Show HG01243.hp1 HG02258.hp1 NA18952.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0032 a0002c0002t0003g0053 a0001c0001t0001g0032 a0002c0002t0003g0053	4	207	0.0193	18	c.137 others(35): Show c.137+1813_137+1814insATATATATATATTTTTTT		CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4						chr5	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	ATTATATA others(11): Show ATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp1 HG03516.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	2	205	0.0098	18	c.137 others(35): Show c.137+1813_137+1814insATATATATATATATATAA		CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4						chr5	TogoVar
CAPZA1_chr1_112614832_112676616	112638897	C C	CATAGATA others(11): Show CATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02886.hp1 others(2): Show HG02615.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0305 a0001c0002t0001g0301	5	145	0.0345	18	c.40- others(33): Show c.40-8290_40-8273dupATATAGATATAGATATAG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112638926	A A	ATATAGAT others(11): Show ATATAGATATAGATATAGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp2 NA18906.hp2 HG02818.hp1 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0254 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0005g0254 a0001c0003t0005g0256 a0001c0003t0005g0257	3	355	0.0085	18	c.40- others(33): Show c.40-8273_40-8272insATATAGCTATAGATATAG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112638932	A A	ATATAGAT others(11): Show ATATAGATATAGATATAGG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	335	0.0030	18	c.40- others(33): Show c.40-8273_40-8272insATATAGATATAGGTATAG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20805.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0119 a0001c0001t0021g0161 a0001c0001t0002g0119 a0001c0001t0021g0161	2	5	0.4000	18	c.40- others(33): Show c.40-7410_40-7393dupTTTTTTTTTTTTTTTTTT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116901881	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0100 a0001c0002t0030g0100	1	96	0.0104	18	c.220 others(35): Show c.220-2295_220-2294insATGTGTGTGTGTGTGTGT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA3_chr12_18733119_18744188	18742167	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01106.hp2 others(80): Show HG00609.hp1 HG00621.hp2 HG01106.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19010.hp2 NA19059.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	83	100	0.8300	18	c.29 others(29): Show c.2999_*3000insCTCTCACACACACACACA		CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding					2980		chr12	TogoVar
CAPZA3_chr12_18733119_18744188	18742167	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	18	0.0556	18	c.29 others(29): Show c.2999_*3000insCTCTCTCACACACACACA		CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding					2980		chr12	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18943.hp1 NA18943.hp2 HG03130.hp1 NA18943.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0058 a0001c0001t0001g0193 a0001c0002t0003g0362 a0001c0001t0001g0058 a0001c0001t0001g0193 a0001c0002t0003g0362	3	197	0.0152	18	c.330 others(35): Show c.330-8738_330-8721dupATATATATATATATATAT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8						chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	30	0.0333	18	c.93+ others(33): Show c.93+2783_93+2800dupTTTTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8						chr1	TogoVar
CAPZB_chr1_19333775_19490539	19469741	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	50	0.0200	18	c.3+1 others(33): Show c.3+15677_3+15694dupGTGTGTGTGTGTGTGTGT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8						chr1	TogoVar
CARD11_chr7_2901142_3048867	2910745	A A	ACACACAC others(11): Show ACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03225.hp1 HG03579.hp2 others(1): Show HG02132.hp1 HG03225.hp1 HG03579.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0048 a0001c0060 a0001c0001 a0001c0048 a0001c0060	a0001c0001t0001 a0001c0048t0001 a0001c0060t0001 a0001c0001t0001 a0001c0048t0001 a0001c0060t0001	a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0048t0001g0054 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0048t0001g0054 a0001c0060t0001g0260	4	100	0.0400	18	c.314 others(35): Show c.3145-581_3145-580insCGTGTGTGTGTGTGTGTG		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	2933722	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	262	0.0038	18	c.151 others(35): Show c.1518+730_1518+731insGAAAGAAAGAAAGAAAGA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02809.hp1 others(5): Show HG02109.hp2 HG02622.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0008 a0001c0013 a0001c0029 others(4): Show a0001c0008 a0001c0013 a0001c0029 a0001c0031 a0001c0039 a0003c0035 a0017c0033	a0001c0008t0001 a0001c0013t0001 a0001c0029t0001 others(4): Show a0001c0008t0001 a0001c0013t0001 a0001c0029t0001 a0001c0031t0001 a0001c0039t0001 a0003c0035t0003 a0017c0033t0001	a0001c0008t0001g0033 a0001c0008t0001g0062 a0001c0013t0001g0064 others(5): Show a0001c0008t0001g0033 a0001c0008t0001g0062 a0001c0013t0001g0064 a0001c0029t0001g0300 a0001c0031t0001g0063 a0001c0039t0001g0313 a0003c0035t0003g0317 a0017c0033t0001g0269	8	137	0.0584	18	c.685 others(35): Show c.685-1629_685-1612dupTTTTTTTTTTTTTTTTTT		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3004560	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp2 HG01175.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0004g0106 a0001c0005t0001g0009 a0001c0001t0004g0106 a0001c0005t0001g0009	2	318	0.0063	18	c.-12 others(39): Show c.-126+39106_-126+39107insCACACACACACACACACA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3004562	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG03471.hp1 others(1): Show HG01884.hp1 HG02145.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0016 others(1): Show a0001c0008 a0001c0011 a0001c0016 a0001c0020	a0001c0008t0001 a0001c0011t0001 a0001c0016t0001 others(1): Show a0001c0008t0001 a0001c0011t0001 a0001c0016t0001 a0001c0020t0001	a0001c0008t0001g0062 a0001c0011t0001g0108 a0001c0016t0001g0094 others(1): Show a0001c0008t0001g0062 a0001c0011t0001g0108 a0001c0016t0001g0094 a0001c0020t0001g0297	4	166	0.0241	18	c.-12 others(39): Show c.-126+39104_-126+39105insCACACACACACACACATA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3004562	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18973.hp1 NA18974.hp2 others(2): Show HG00438.hp1 NA18973.hp1 NA18974.hp2 NA19056.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0049 a0001c0051 others(1): Show a0001c0001 a0001c0049 a0001c0051 a0002c0022	a0001c0001t0001 a0001c0001t0008 a0001c0049t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0049t0001 a0001c0051t0001 a0002c0022t0002	a0001c0001t0001g0013 a0001c0001t0008g0210 a0001c0049t0001g0071 others(2): Show a0001c0001t0001g0013 a0001c0001t0008g0210 a0001c0049t0001g0071 a0001c0051t0001g0208 a0002c0022t0002g0209	5	167	0.0299	18	c.-12 others(39): Show c.-126+39104_-126+39105insCACACACACACACACACA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3040328	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0108 a0001c0011t0001g0108	1	202	0.0050	18	c.-12 others(37): Show c.-126+3338_-126+3339insAAAAAAAAAAAAAAAAAA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG03490.hp2 HG01261.hp1 HG03490.hp2	a0004 a0017 a0004 a0017	a0004c0008 a0017c0068 a0004c0008 a0017c0068	a0004c0008t0001 a0017c0068t0007 a0004c0008t0001 a0017c0068t0007	a0004c0008t0001g0258 a0017c0068t0007g0264 a0004c0008t0001g0258 a0017c0068t0007g0264	2	136	0.0147	18	c.-68 others(32): Show c.-689-25_-689-8dupTTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80206296	T T	TCTAAAAA others(11): Show TCTAAAAAAAATATTTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0018 a0019 a0025 a0026 a0027 a0028 a0029 a0030	a0001c0012 a0001c0021 a0001c0051 others(40): Show a0001c0012 a0001c0021 a0001c0051 a0001c0064 a0001c0067 a0002c0002 a0002c0005 a0002c0017 a0002c0037 a0002c0045 a0002c0046 a0002c0055 a0003c0006 a0003c0010 a0003c0029 a0003c0032 a0003c0044 a0003c0066 a0004c0003 a0004c0008 a0004c0031 a0004c0052 a0004c0053 a0005c0004 a0005c0014 a0005c0048 a0006c0009 a0006c0015 a0008c0018 a0010c0020 a0011c0034 a0011c0061 a0012c0019 a0013c0035 a0015c0033 a0018c0041 a0019c0047 a0025c0065 a0026c0043 a0027c0058 a0028c0038 a0029c0040 a0030c0057	a0001c0012t0001 a0001c0021t0008 a0001c0051t0001 others(50): Show a0001c0012t0001 a0001c0021t0008 a0001c0051t0001 a0001c0064t0013 a0001c0067t0006 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0008 a0002c0005t0010 a0002c0017t0001 a0002c0037t0001 a0002c0045t0008 a0002c0046t0001 a0002c0055t0001 a0003c0006t0001 a0003c0010t0001 a0003c0029t0001 a0003c0029t0008 a0003c0032t0001 a0003c0044t0006 a0003c0066t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0010 a0004c0003t0017 a0004c0008t0001 a0004c0031t0008 a0004c0052t0001 a0004c0053t0001 a0005c0004t0001 a0005c0014t0001 a0005c0048t0001 a0006c0009t0001 a0006c0009t0006 a0006c0009t0012 a0006c0015t0001 a0006c0015t0006 a0008c0018t0001 a0010c0020t0006 a0011c0034t0001 a0011c0061t0001 a0012c0019t0001 a0013c0035t0001 a0015c0033t0001 a0018c0041t0001 a0019c0047t0001 a0025c0065t0021 a0026c0043t0001 a0027c0058t0001 a0028c0038t0001 a0029c0040t0001 a0030c0057t0015	a0001c0012t0001g0033 a0001c0012t0001g0079 a0001c0012t0001g0094 others(183): Show a0001c0012t0001g0033 a0001c0012t0001g0079 a0001c0012t0001g0094 a0001c0012t0001g0111 a0001c0012t0001g0234 a0001c0012t0001g0244 a0001c0012t0001g0308 a0001c0012t0001g0321 a0001c0012t0001g0344 a0001c0021t0008g0047 a0001c0021t0008g0048 a0001c0021t0008g0049 a0001c0051t0001g0316 a0001c0064t0013g0235 a0001c0067t0006g0031 a0002c0002t0001g0006 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0038 a0002c0002t0001g0076 a0002c0002t0001g0098 a0002c0002t0001g0104 a0002c0002t0001g0108 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0171 a0002c0002t0001g0186 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0207 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0241 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0001g0323 a0002c0002t0002g0246 a0002c0005t0001g0003 a0002c0005t0001g0061 a0002c0005t0001g0064 a0002c0005t0001g0074 a0002c0005t0001g0075 a0002c0005t0001g0080 a0002c0005t0001g0085 a0002c0005t0001g0121 a0002c0005t0001g0138 a0002c0005t0001g0139 a0002c0005t0001g0178 a0002c0005t0001g0210 a0002c0005t0001g0225 a0002c0005t0001g0282 a0002c0005t0001g0298 a0002c0005t0001g0322 a0002c0005t0008g0044 a0002c0005t0010g0062 a0002c0005t0010g0063 a0002c0017t0001g0020 a0002c0017t0001g0100 a0002c0017t0001g0119 a0002c0017t0001g0239 a0002c0017t0001g0243 a0002c0037t0001g0036 a0002c0045t0008g0054 a0002c0046t0001g0133 a0002c0055t0001g0013 a0003c0006t0001g0174 a0003c0006t0001g0259 a0003c0010t0001g0065 a0003c0029t0001g0221 a0003c0029t0008g0084 a0003c0032t0001g0114 a0003c0032t0001g0130 a0003c0044t0006g0129 a0003c0066t0001g0360 a0004c0003t0001g0032 a0004c0003t0001g0034 a0004c0003t0001g0099 a0004c0003t0001g0120 a0004c0003t0001g0128 a0004c0003t0001g0135 a0004c0003t0001g0136 a0004c0003t0001g0160 a0004c0003t0001g0170 a0004c0003t0001g0191 a0004c0003t0001g0204 a0004c0003t0001g0208 a0004c0003t0001g0216 a0004c0003t0001g0224 a0004c0003t0001g0240 a0004c0003t0001g0319 a0004c0003t0001g0328 a0004c0003t0001g0338 a0004c0003t0001g0345 a0004c0003t0002g0238 a0004c0003t0010g0334 a0004c0003t0017g0118 a0004c0008t0001g0150 a0004c0008t0001g0188 a0004c0008t0001g0222 a0004c0008t0001g0258 a0004c0008t0001g0261 a0004c0008t0001g0270 a0004c0008t0001g0271 a0004c0008t0001g0272 a0004c0008t0001g0279 a0004c0008t0001g0291 a0004c0008t0001g0297 a0004c0008t0001g0304 a0004c0008t0001g0313 a0004c0008t0001g0318 a0004c0031t0008g0043 a0004c0031t0008g0046 a0004c0052t0001g0317 a0004c0053t0001g0164 a0005c0004t0001g0012 a0005c0004t0001g0016 a0005c0004t0001g0167 a0005c0004t0001g0194 a0005c0004t0001g0203 a0005c0004t0001g0276 a0005c0004t0001g0290 a0005c0004t0001g0299 a0005c0004t0001g0307 a0005c0004t0001g0312 a0005c0004t0001g0320 a0005c0004t0001g0324 a0005c0004t0001g0330 a0005c0004t0001g0331 a0005c0004t0001g0332 a0005c0004t0001g0333 a0005c0004t0001g0339 a0005c0004t0001g0342 a0005c0004t0001g0343 a0005c0014t0001g0184 a0005c0048t0001g0306 a0006c0009t0001g0096 a0006c0009t0001g0103 a0006c0009t0001g0113 a0006c0009t0001g0132 a0006c0009t0001g0137 a0006c0009t0001g0245 a0006c0009t0001g0310 a0006c0009t0001g0340 a0006c0009t0001g0341 a0006c0009t0006g0005 a0006c0009t0012g0006 a0006c0015t0001g0004 a0006c0015t0001g0068 a0006c0015t0001g0073 a0006c0015t0001g0078 a0006c0015t0001g0300 a0006c0015t0006g0069 a0008c0018t0001g0097 a0008c0018t0001g0102 a0008c0018t0001g0142 a0008c0018t0001g0254 a0008c0018t0001g0255 a0010c0020t0006g0143 a0010c0020t0006g0145 a0010c0020t0006g0146 a0011c0034t0001g0325 a0011c0034t0001g0335 a0011c0061t0001g0144 a0012c0019t0001g0003 a0012c0019t0001g0066 a0012c0019t0001g0067 a0013c0035t0001g0109 a0013c0035t0001g0110 a0015c0033t0001g0327 a0015c0033t0001g0347 a0018c0041t0001g0314 a0019c0047t0001g0296 a0025c0065t0021g0275 a0026c0043t0001g0269 a0027c0058t0001g0095 a0028c0038t0001g0219 a0029c0040t0001g0190 a0030c0057t0015g0019	188	374	0.5027	18	c.269 others(35): Show c.2691+655_2691+656insATTTCAACTAAAAAAAAT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG01496.hp1 others(8): Show HG01109.hp1 HG01346.hp1 HG01496.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 NA18747.hp2 NA18977.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 others(4): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0051 a0001c0001t0064 a0001c0001t0067	a0001c0001t0007g0119 a0001c0001t0007g0153 a0001c0001t0007g0154 others(8): Show a0001c0001t0007g0119 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0010g0160 a0001c0001t0010g0294 a0001c0001t0010g0295 a0001c0001t0018g0158 a0001c0001t0028g0159 a0001c0001t0051g0262 a0001c0001t0064g0105 a0001c0001t0067g0055	11	131	0.0840	18	c.642 others(35): Show c.642+2505_642+2522dupGTGTGTGTGTGTGTGTGT		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02132.hp1 others(3): Show HG01175.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp1 NA18978.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0001c0001t0059 a0004c0004t0009	a0001c0001t0001g0234 a0001c0001t0005g0210 a0001c0001t0007g0152 others(3): Show a0001c0001t0001g0234 a0001c0001t0005g0210 a0001c0001t0007g0152 a0001c0001t0025g0239 a0001c0001t0059g0275 a0004c0004t0009g0090	6	19	0.3158	18	c.155 others(35): Show c.1559-910_1559-893dupTATATATATATATATATA		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986868	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	221	0.0045	18	c.32 others(29): Show c.3247_*3248insGTATATATATATATATAT		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17				3248	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	76	0.0132	18	c.31 others(29): Show c.3186_*3187insAAAAAAAAAAAAAAAAAG		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding					969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02572.hp1 HG02965.hp2 others(8): Show HG01934.hp1 HG02572.hp1 HG02965.hp2 NA18953.hp1 NA18955.hp2 NA18975.hp1 NA18975.hp2 NA19002.hp1 NA19002.hp2 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0290 a0001c0002t0002g0001 a0001c0002t0002g0040 others(8): Show a0001c0001t0002g0290 a0001c0002t0002g0001 a0001c0002t0002g0040 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0101 a0001c0002t0002g0152 a0001c0002t0002g0156 a0001c0002t0002g0162 a0001c0002t0002g0328 a0001c0002t0002g0329	11	86	0.1279	18	c.31 others(29): Show c.3169_*3186dupAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding					969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 NA18943.hp2 others(1): Show HG00738.hp2 HG01978.hp2 NA18943.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0127 a0001c0001t0003g0205 others(1): Show a0001c0001t0003g0044 a0001c0001t0003g0127 a0001c0001t0003g0205 a0001c0001t0003g0416	4	115	0.0348	18	c.281 others(35): Show c.281+1069_281+1086dupAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3						chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	100	0.0100	18	c.-7- others(33): Show c.-7-2672_-7-2655dupAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3						chr16	TogoVar
CARM1_chr19_10866553_10928075	10871604	G G	GGCGGCGG others(11): Show GGCGGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02135.hp1 HG02615.hp1 HG02071.hp1 HG02135.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0128 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0004g0128 a0001c0001t0006g0168 a0001c0001t0006g0169	3	340	0.0088	18	c.-82 others(25): Show c.-82_-81insTGCGGCGGCGGCGGCGGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				81	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871637	G G	GGCGGCGG others(11): Show GGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	346	0.0029	18	c.-64 others(25): Show c.-64_-63insGGCGGCGGCGGCGGCAGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				63	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0037 a0002c0007t0006g0037	1	47	0.0213	18	c.40+ others(33): Show c.40+1302_40+1303insGCGCGCACACACACACAC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(11): Show GCATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18983.hp1 NA19003.hp2 others(1): Show NA18950.hp1 NA18983.hp1 NA19003.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0006t0002 a0001c0008t0001 a0001c0001t0001 a0001c0006t0002 a0001c0008t0001	a0001c0001t0001g0071 a0001c0006t0002g0012 a0001c0006t0002g0086 others(1): Show a0001c0001t0001g0071 a0001c0006t0002g0012 a0001c0006t0002g0086 a0001c0008t0001g0011	4	113	0.0354	18	c.138 others(37): Show c.138+28774_138+28775insCATATATATATATATATA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36						chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0141	1	43	0.0233	18	c.139 others(37): Show c.139-32998_139-32981dupAAAAAAAAAAAAAAAAAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	24	0.0417	18	c.371 others(35): Show c.371+5734_371+5735insATATATATATATATATGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02257.hp1 NA18943.hp2 others(4): Show HG00140.hp2 HG02257.hp1 NA18943.hp2 NA18945.hp1 NA18956.hp2 NA18983.hp1 NA19003.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001	a0001c0006t0001g0020 a0001c0006t0002g0012 a0001c0006t0002g0027 others(4): Show a0001c0006t0001g0020 a0001c0006t0002g0012 a0001c0006t0002g0027 a0001c0006t0002g0100 a0001c0006t0002g0121 a0001c0008t0001g0011 a0001c0008t0001g0041	7	30	0.2333	18	c.371 others(35): Show c.371+5734_371+5735insATATATATATATATGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0154 a0001c0006t0014g0154	1	24	0.0417	18	c.371 others(35): Show c.371+5734_371+5735insATATATATATATGTGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(11): Show ATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0016 a0002c0013t0016	a0002c0013t0016g0169 a0002c0013t0016g0169	1	24	0.0417	18	c.371 others(35): Show c.371+5734_371+5735insATATATATATGTGTGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(11): Show ATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp2 NA18522.hp2 HG01243.hp1 HG02895.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0010 a0002c0005t0003 a0002c0005t0024 a0001c0003t0010 a0002c0005t0003 a0002c0005t0024	a0001c0003t0010g0183 a0002c0005t0003g0035 a0002c0005t0024g0162 a0001c0003t0010g0183 a0002c0005t0003g0035 a0002c0005t0024g0162	3	26	0.1154	18	c.371 others(35): Show c.371+5734_371+5735insATATATGTGTGTGTGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03130.hp1 HG02055.hp1 HG02258.hp2 HG03130.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0016 a0002c0005t0007 a0002c0005t0016	a0002c0005t0007g0170 a0002c0005t0007g0173 a0002c0005t0016g0172 a0002c0005t0007g0170 a0002c0005t0007g0173 a0002c0005t0016g0172	3	26	0.1154	18	c.371 others(35): Show c.371+5734_371+5735insATATGTGTGTGTGTGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03139.hp2 NA19003.hp2 HG02717.hp2 HG03139.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0009 a0002c0005 a0001c0006 a0001c0009 a0002c0005	a0001c0006t0002 a0001c0009t0011 a0002c0005t0006 a0001c0006t0002 a0001c0009t0011 a0002c0005t0006	a0001c0006t0002g0012 a0001c0009t0011g0046 a0002c0005t0006g0043 a0001c0006t0002g0012 a0001c0009t0011g0046 a0002c0005t0006g0043	3	155	0.0194	18	c.615 others(35): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(11): Show CCACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG02132.hp2 HG02723.hp1 others(5): Show HG00621.hp1 HG02132.hp2 HG02723.hp1 NA18612.hp2 NA18950.hp1 NA18999.hp2 NA19058.hp1 NA19060.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0036 a0001c0004t0010 a0001c0004t0036	a0001c0004t0010g0009 a0001c0004t0010g0010 a0001c0004t0010g0025 others(1): Show a0001c0004t0010g0009 a0001c0004t0010g0010 a0001c0004t0010g0025 a0001c0004t0036g0010	8	150	0.0533	18	c.27 others(27): Show c.274_*291dupACACACACACACACACAC		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10				292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(11): Show CTGTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19065.hp2 NA18993.hp2 NA19065.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0045 a0002c0004t0002g0060 a0002c0004t0002g0045 a0002c0004t0002g0060	2	18	0.1111	18	c.105 others(37): Show c.1054+1102_1054+1103insAACAAAAAAAAAAAAACA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(11): Show CTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01517.hp1 others(6): Show HG01168.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp1 HG03041.hp2 HG03688.hp2 HG06807.hp1 NA18963.hp1 NA18997.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0003 a0002c0004t0001 a0002c0004t0003	a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0037 others(6): Show a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0037 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0052 a0002c0004t0001g0056 a0002c0004t0003g0236 a0002c0004t0003g0299	9	25	0.3600	18	c.105 others(37): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAACA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679581	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0264 a0011c0017t0002g0264	1	370	0.0027	18	c.656 others(35): Show c.656-2479_656-2478insCTCTCTCTCTTTCTTTCT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02572.hp2 others(1): Show HG00741.hp1 HG02145.hp1 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0173 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0173 a0001c0001t0001g0189 a0001c0001t0001g0210	4	130	0.0308	18	c.-23 others(27): Show c.-232_-231insACACACACACACACACAC		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140331	C C	CACACACA others(11): Show CACACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0019 a0001c0008t0002g0019	1	264	0.0038	18	c.-21 others(27): Show c.-218_-217insACACACACACACACCCCA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					205		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140393	C C	CCAACACA others(11): Show CCAACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	263	0.0038	18	c.-15 others(27): Show c.-156_-155insCAACACACACACACCCCA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					143		chr17	TogoVar

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