Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
CFAP46_chr10_132803392_132947570	132822897	C C	CTGATGTG others(94): Show CTGATGTGTGCTGTGTGTGCTGATGTGTGCTGATGTGTGCACTGTGTGCT GTGTGTGTGGTGATGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGC AG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0209 a0009c0043t0001g0209	1	244	0.0041	101	c.711 others(120): Show c.7118-7984_7118-7983insCTGCACACACAGCACACATCACCACA CACACAGCACACATCACCACACACACAGCACACAGTGCACACATCAGCAC ACATCAGCACACACAGCACACATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822914	A A	AGTGCTGG others(94): Show AGTGCTGGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGTG TGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGT GT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0031 a0031	a0031c0101 a0031c0101	a0031c0101t0002 a0031c0101t0002	a0031c0101t0002g0022 a0031c0101t0002g0022	1	242	0.0041	101	c.711 others(120): Show c.7118-8001_7118-8000insACACACAGCACACATCACTGCACACA CAGCACACATCACCACACACACAGCACACATCACCACACACACAGCACAC AGTGCACACATCAGCACACCAGCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826555	G G	GCCAGAGC others(94): Show GCCAGAGCCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCAGAGCCACA GAGACCTGCCACAGAGCCAGGCAGGAGCCGGAGCCACGGAGCCAGGCAGG AA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG01993.hp1 HG01261.hp2 HG01358.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0160 a0002c0002t0001g0190 a0002c0002t0001g0195	3	244	0.0123	101	c.711 others(120): Show c.7117+6802_7117+6803insTTCCTGCCTGGCTCCGTGGCTCCGGC TCCTGCCTGGCTCTGTGGCAGGTCTCTGTGGCTCTGGCTCCTGCCTGGCT CCATGGCTGGTCTCTGTGGCTCTGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20356917	C C	CTGAGGGG others(94): Show CTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0022 a0001c0012 a0002c0022	a0001c0012t0002 a0002c0022t0002 a0001c0012t0002 a0002c0022t0002	a0001c0012t0002g0172 a0002c0022t0002g0049 a0001c0012t0002g0172 a0002c0022t0002g0049	2	218	0.0092	101	c.351 others(120): Show c.3514-3277_3514-3276insTACTGTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357073	C C	CTGAGGGG others(94): Show CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18942.hp2 NA18955.hp2 HG01433.hp1 NA18942.hp2 NA18955.hp2	a0001 a0008 a0026 a0001 a0008 a0026	a0001c0001 a0008c0016 a0026c0031 a0001c0001 a0008c0016 a0026c0031	a0001c0001t0002 a0008c0016t0002 a0026c0031t0002 a0001c0001t0002 a0008c0016t0002 a0026c0031t0002	a0001c0001t0002g0035 a0008c0016t0002g0044 a0026c0031t0002g0043 a0001c0001t0002g0035 a0008c0016t0002g0044 a0026c0031t0002g0043	3	178	0.0169	101	c.351 others(120): Show c.3514-3133_3514-3132insGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357593	C C	CTGAGGAG others(94): Show CTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0054 a0001c0023t0003g0054	1	199	0.0050	101	c.351 others(120): Show c.3514-2615_3514-2614insAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTC ACACTGAGGAGAGGTGGTCATAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357772	C C	CTGAGGGG others(94): Show CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAG TG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 NA19030.hp1 HG01109.hp1 HG01109.hp2 NA19030.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0011 a0010c0017 a0001c0001 a0006c0011 a0010c0017	a0001c0001t0002 a0006c0011t0002 a0010c0017t0002 a0001c0001t0002 a0006c0011t0002 a0010c0017t0002	a0001c0001t0002g0063 a0006c0011t0002g0117 a0010c0017t0002g0121 a0001c0001t0002g0063 a0006c0011t0002g0117 a0010c0017t0002g0121	3	227	0.0132	101	c.351 others(120): Show c.3514-2420_3514-2419insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(94): Show GACCACCCCCCAGCTCACAGCCCACCCCCCATCTCACCGCCCAGCCCCCC ATCTCACCAGCTGCCCCCTCCCCGACACACCGCCCACCCCCCCATCTCAC CA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0001 a0015c0036t0001	a0015c0036t0001g0275 a0015c0036t0001g0275	1	49	0.0204	101	c.423 others(118): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGT CGGGGAGGGGGCAGCTGGTGAGATGGGGGGCTGGGCGGTGAGATGGGGGG TGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFD_chr19_854664_868641	866551	A A	AGGCCCGC others(94): Show AGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCGTCCACCCGCCGC GGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	266	0.0038	101	c.33 others(112): Show c.3313_*3314insGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTC TCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTC CCCGTCCACCCGCCGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(94): Show CCCGCCGCACCCCTCCCCCGCCGCACCCCTCCCCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	100	0.0100	101	c.-36 others(112): Show c.-3694_-3693insCCGCCGCACCCCTCCCCCGCCGCACCCCTCCCCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(94): Show TATATATATATATGAATATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATATGATATATATAT GA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	56	0.0179	101	c.124 others(116): Show c.1244+96_1244+97insTCATATATATATCATATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHST8_chr19_33616953_33778506	33760264	G G	GCCCTTTC others(94): Show GCCCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCCCTCC CT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(93): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18962.hp1 NA18973.hp2 NA18974.hp2 NA18983.hp2 NA18990.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19070.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0002c0005t0004	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 others(93): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0173 a0001c0001t0007g0177 a0001c0001t0010g0013 a0001c0002t0001g0157 a0002c0005t0004g0008	96	105	0.9143	101	c.131 others(120): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTT CCTCCCCTCCCTCCCTCCCTCCCTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33760266	C C	CCTTTCTT others(94): Show CCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCCCTCCCT CA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp1 HG01515.hp2 others(2): Show HG01071.hp1 HG01099.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0112 a0001c0001t0001g0238 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0004g0002 a0001c0001t0004g0006	5	252	0.0198	101	c.131 others(120): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTT CCTCCCCTCCCTCCCTCCCTCACTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33760269	T T	TTCTTCCC others(94): Show TTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCCCTCCC TC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02698.hp1 HG04115.hp2 HG02486.hp1 HG02698.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0077 a0001c0001t0001g0228 a0001c0001t0001g0018 a0001c0001t0001g0077 a0001c0001t0001g0228	3	251	0.0120	101	c.131 others(120): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCC CTTTCCTCCCCTCCCTCCCTCCCTC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CLNK_chr4_10481395_10689768	10667741	A A	AATCCCTT others(94): Show AATCCCTTTTCCATGGGCGGCCACATTGGCATCATTTCTCAGTTCATCTT CCAGAAAACACCTCCTGTCCCCACCAAGAAAAGGGAACTGGGGCTCAGAG TG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0004c0006 a0005c0007 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0077 a0001c0001t0078 a0001c0004t0021 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012 a0002c0002t0060 a0004c0006t0004 a0004c0006t0018 a0005c0007t0019 a0005c0007t0067 a0006c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0041 others(113): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0189 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0004g0007 a0001c0001t0004g0026 a0001c0001t0004g0036 a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0078 a0001c0001t0004g0281 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0032 a0001c0001t0006g0058 a0001c0001t0006g0070 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0006g0109 a0001c0001t0009g0136 a0001c0001t0009g0300 a0001c0001t0011g0020 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0059 a0001c0001t0011g0120 a0001c0001t0011g0285 a0001c0001t0012g0025 a0001c0001t0012g0031 a0001c0001t0012g0034 a0001c0001t0014g0023 a0001c0001t0014g0063 a0001c0001t0014g0287 a0001c0001t0016g0043 a0001c0001t0016g0103 a0001c0001t0016g0279 a0001c0001t0019g0151 a0001c0001t0020g0064 a0001c0001t0020g0069 a0001c0001t0020g0076 a0001c0001t0022g0055 a0001c0001t0031g0295 a0001c0001t0032g0198 a0001c0001t0056g0021 a0001c0001t0057g0022 a0001c0001t0058g0066 a0001c0001t0059g0071 a0001c0001t0063g0029 a0001c0001t0064g0019 a0001c0001t0068g0152 a0001c0001t0069g0121 a0001c0001t0070g0320 a0001c0001t0077g0074 a0001c0001t0078g0006 a0001c0004t0021g0102 a0002c0002t0001g0040 a0002c0002t0004g0051 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0087 a0002c0002t0006g0047 a0002c0002t0011g0045 a0002c0002t0012g0054 a0002c0002t0060g0044 a0004c0006t0004g0082 a0004c0006t0018g0080 a0004c0006t0018g0081 a0004c0006t0018g0083 a0005c0007t0019g0053 a0005c0007t0067g0062 a0006c0013t0001g0280	116	318	0.3648	101	c.11+ others(114): Show c.11+117_11+118insCACTCTGAGCCCCAGTTCCCTTTTCTTGGTGG GGACAGGAGGTGTTTTCTGGAAGATGAACTGAGAAATGATGCCAATGTGG CCGCCCATGGAAAAGGGAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10667795	A A	AAAACACC others(94): Show AAAACACCTCCTGTCCCCACCAAGAAAAGGGAACTGGGGCTCAGAGTGAT CCCTTTTCCATGGGCGGCCACATTGGCATCATTTCTCAGTTCATCTTCCA GG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	318	0.0031	101	c.11+ others(112): Show c.11+63_11+64insCCTGGAAGATGAACTGAGAAATGATGCCAATGTG GCCGCCCATGGAAAAGGGATCACTCTGAGCCCCAGTTCCCTTTTCTTGGT GGGGACAGGAGGTGTTT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CNOT3_chr19_54132762_54160681	54134016	T T	TCCCCTCT others(94): Show TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	218	0.0046	101	c.-40 others(112): Show c.-4028_-4027insCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3745		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899850	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	252	0.0040	101	c.-46 others(120): Show c.-46+13395_-46+13396insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899850	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGAAAGAAAG AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp2 NA19057.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	253	0.0079	101	c.-46 others(120): Show c.-46+13395_-46+13396insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	248	0.0040	101	c.-46 others(120): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	248	0.0040	101	c.-46 others(120): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN6_chr3_1088024_1409217	1245304	A A	ATATATAA others(94): Show ATATATAACATATATATATATATAACATATATATATATATAACATATATA TATATATAACATATATATATATAACATATATATATATAACATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	209	0.0048	101	c.358 others(120): Show c.358+17317_358+17318insACATATATATATATATAACATATATA TATATATAACATATATATATATATAACATATATATATATAACATATATAT ATATAACATATATATATATTATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL4A1_chr13_110143963_110312157	110252655	A A	ATATATGT others(94): Show ATATATGTATATATACATATAATATGTATATATACATATAATATGTATAT ATACATATAATTATATGTATATATACATATAATATGTATATATACATATA AT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0098 a0003c0098	a0003c0098t0003 a0003c0098t0003	a0003c0098t0003g0204 a0003c0098t0003g0204	1	193	0.0052	101	c.85- others(116): Show c.85-9922_85-9921insATTATATGTATATATACATATTATATGTAT ATATACATATAATTATATGTATATATACATATTATATGTATATATACATA TTATATGTATATATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970230	G G	GGGTGAGT others(94): Show GGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTGTGCAGTGAGGGATCTGT GGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGTGCT GT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(11): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp1	a0014 a0025 a0059 others(1): Show a0014 a0025 a0059 a0062	a0014c0008 a0025c0038 a0059c0100 others(1): Show a0014c0008 a0025c0038 a0059c0100 a0062c0095	a0014c0008t0001 a0025c0038t0001 a0059c0100t0001 others(1): Show a0014c0008t0001 a0025c0038t0001 a0059c0100t0001 a0062c0095t0002	a0014c0008t0001g0044 a0014c0008t0001g0045 a0014c0008t0001g0046 others(11): Show a0014c0008t0001g0044 a0014c0008t0001g0045 a0014c0008t0001g0046 a0014c0008t0001g0047 a0014c0008t0001g0048 a0014c0008t0001g0049 a0014c0008t0001g0050 a0014c0008t0001g0051 a0014c0008t0001g0052 a0014c0008t0001g0400 a0025c0038t0001g0219 a0025c0038t0001g0223 a0059c0100t0001g0040 a0062c0095t0002g0037	14	401	0.0349	101	c.393 others(118): Show c.3937-309_3937-308insACAGCACCCACTCACCCACAGACCCCAC TCACCCCACAGACCCCACTCACCCACAGATCCCTCACTGCACAGCTCCCA TTCACCCACAGACCTCACTCACC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(94): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	247	0.0040	101	c.735 others(116): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTC TTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(94): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG GAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	247	0.0040	101	c.735 others(116): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTC TTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGGAA others(94): Show GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	247	0.0040	101	c.735 others(116): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(94): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	146	0.0068	101	c.735 others(116): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(94): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18977.hp2 HG01109.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0228 a0001c0002t0001g0231	2	147	0.0136	101	c.735 others(116): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(94): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	146	0.0068	101	c.735 others(116): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPED1_chr7_120983711_121302442	121047716	T T	TTCCTCTT others(94): Show TTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTATT CTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCT TC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02647.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0048 a0001c0001t0006g0049	2	131	0.0153	101	c.540 others(116): Show c.540+724_540+725insCCTCTTCCTCTTCCTCTTCCTCTTCTTCTT CTTCTTCTTCTTCTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCT TATTCTTATTCTTATTCTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(94): Show GCCCCGCCCCCCTCCACACCGGGACCCGCCCCCCGCCCACCCGGAGGAGG AACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCGCCCCCGCCCCC GC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	117	0.0085	101	c.927 others(116): Show c.927+238_927+239insCTCCACACCGGGACCCGCCCCCCGCCCACC CGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCGCC CCCGCCCCCGCCCCCGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(94): Show GCGTGTCACCCACAGAAACACGGCCCCCCGTGTTACCCGCGTGTTACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	232	0.0043	101	c.928 others(116): Show c.928-454_928-453insAACACGGCCCCCCGTGTTACCCGCGTGTTA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(94): Show GCGTGTCACCCACAGATACGCGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCC CC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	232	0.0043	101	c.928 others(116): Show c.928-451_928-450insGCGGCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702007	A A	AATATATT others(94): Show AATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAAATAA ATATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTATAA AT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG02056.hp2 others(2): Show HG01099.hp2 HG01109.hp1 HG02056.hp2 HG02717.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0231 a0001c0001t0001g0263 a0002c0003t0001g0264	5	146	0.0342	101	c.693 others(116): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA AATATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTATA AATATATATTTATTTATAAAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702007	A A	AATATATT others(94): Show AATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAAATAA ATATATTTATTTATAAATTATAAATAAATATATTTATTTATAAATTATAA AT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02486.hp1 HG02818.hp2 others(2): Show HG01346.hp2 HG02486.hp1 HG02818.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0170 a0001c0001t0002g0171 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172	5	146	0.0342	101	c.693 others(116): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA AATATATTTATTTATAAATTATAAATAAATATATTTATTTATAAATTATA AATATATATTTATTTATAAAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702024	A A	ATAAATAT others(94): Show ATAAATATATATTTATTTATAAATTATAAATAAATATATATTTATTTATA AATTATAAATATATATTTATTTATAAATTATAAATATATATTTATTTATA AT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	346	0.0029	101	c.693 others(116): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA AATATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTATA AATATATATTTATTTATAATT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRELD2_chr22_49913634_49932537	49926831	C C	CCCCCCCA others(94): Show CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	321	0.0031	101	c.101 others(118): Show c.1010-418_1010-417insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647321	T T	TCCTCCTC others(94): Show TCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	264	0.0038	101	c.51 others(112): Show c.5181_*5182insCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCT CAATCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1977		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106483401	T T	TATATATA others(94): Show TATATATATATGTATATATATATATATATATATATATATGTATATATATA TATATATATATATATGTATATATATGTATATATATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0026 a0001c0009t0001g0026	1	225	0.0044	101	c.313 others(120): Show c.313-28028_313-28027insTATATATATGTATATATATATATATA TATATATATATGTATATATATATATATATATATATATGTATATATATGTA TATATATATATATATATATATATAA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSMD1_chr8_2930361_4999914	3448321	A A	AAGGGAGG others(94): Show AAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAG GG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02486.hp2 others(13): Show HG01081.hp2 HG01884.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0020 a0030 a0032 a0035 a0039	a0001c0004 a0001c0019 a0001c0020 others(13): Show a0001c0004 a0001c0019 a0001c0020 a0001c0025 a0001c0068 a0002c0022 a0002c0035 a0002c0060 a0002c0070 a0004c0014 a0005c0107 a0020c0112 a0030c0106 a0032c0024 a0035c0023 a0039c0010	a0001c0004t0063 a0001c0019t0078 a0001c0020t0018 others(13): Show a0001c0004t0063 a0001c0019t0078 a0001c0020t0018 a0001c0025t0003 a0001c0068t0015 a0002c0022t0035 a0002c0035t0047 a0002c0060t0007 a0002c0070t0046 a0004c0014t0055 a0005c0107t0066 a0020c0112t0081 a0030c0106t0014 a0032c0024t0077 a0035c0023t0001 a0039c0010t0068	a0001c0004t0063g0095 a0001c0019t0078g0105 a0001c0020t0018g0065 others(13): Show a0001c0004t0063g0095 a0001c0019t0078g0105 a0001c0020t0018g0065 a0001c0025t0003g0077 a0001c0068t0015g0049 a0002c0022t0035g0048 a0002c0035t0047g0076 a0002c0060t0007g0094 a0002c0070t0046g0092 a0004c0014t0055g0056 a0005c0107t0066g0073 a0020c0112t0081g0090 a0030c0106t0014g0042 a0032c0024t0077g0104 a0035c0023t0001g0052 a0039c0010t0068g0084	16	100	0.1600	101	c.156 others(122): Show c.1561+20390_1561+20391insCCCTCCCCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTTCTTCCTTC CTTCCTTCCTTCCCTCCCTCCCTCCCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448341	G G	GAAGGAAG others(94): Show GAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAG GA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19060.hp1 NA19074.hp2 others(1): Show HG00423.hp1 NA19060.hp1 NA19074.hp2 NA19090.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0007 a0001c0090 a0002c0092 others(1): Show a0001c0007 a0001c0090 a0002c0092 a0010c0096	a0001c0007t0001 a0001c0090t0001 a0002c0092t0001 others(1): Show a0001c0007t0001 a0001c0090t0001 a0002c0092t0001 a0010c0096t0065	a0001c0007t0001g0035 a0001c0090t0001g0027 a0002c0092t0001g0011 others(1): Show a0001c0007t0001g0035 a0001c0090t0001g0027 a0002c0092t0001g0011 a0010c0096t0065g0116	4	103	0.0388	101	c.156 others(122): Show c.1561+20370_1561+20371insTCCTCCCTCCCTCCCTCCCTCCCC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTC CCTCCCTTCTTCCTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4595371	T T	TCGATGCA others(94): Show TCGATGCATTCATTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG01243.hp1 HG02572.hp1	a0005 a0018 a0005 a0018	a0005c0064 a0018c0042 a0005c0064 a0018c0042	a0005c0064t0050 a0018c0042t0004 a0005c0064t0050 a0018c0042t0004	a0005c0064t0050g0078 a0018c0042t0004g0004 a0005c0064t0050g0078 a0018c0042t0004g0004	2	82	0.0244	101	c.302 others(120): Show c.302+41970_302+41971insTATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAGAAAAAAA AAAAAAAAAGAAAATGAATGCATCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CTSS_chr1_150725188_150770778	150744468	T T	TTTATATA others(94): Show TTTATATATTATATGTATATTATGTATACATAATATATTATATATTATAT GTATATTATGTATACATAATATATTATATATGTATATTATGTATACATAA TA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00621.hp1 others(44): Show HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG01255.hp2 HG01257.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18948.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18978.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010	a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0013 others(27): Show a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0020 a0002c0002t0002g0025 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0102 a0002c0002t0005g0062 a0002c0002t0005g0065 a0002c0002t0007g0076 a0002c0002t0009g0063 a0002c0002t0010g0082	47	295	0.1593	101	c.896 others(118): Show c.896+3308_896+3309insTATTATGTATACATAATATACATATATA ATATATTATGTATACATAATATACATATAATATATAATATATTATGTATA CATAATATACATATAATATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744505	A A	ATTATATA others(94): Show ATTATATATTATATGTATATTATGTATACATAATATATTATATATGTATA TTATGTATACATAATATTTATATATTATATGTATATTATGTATACATAAT AT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 NA18995.hp1 HG00408.hp2 HG02027.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0071 a0002c0002t0002g0021 a0002c0002t0002g0071	3	340	0.0088	101	c.896 others(118): Show c.896+3271_896+3272insATATTATGTATACATAATATACATATAA TATATAAATATTATGTATACATAATATACATATATAATATATTATGTATA CATAATATACATATAATATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111325762	T T	TGGTGGGG others(94): Show TGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGG TTTGTTTATAGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTT GG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG02622.hp1 others(2): Show HG01099.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0025 others(2): Show a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0090	5	75	0.0667	101	c.292 others(120): Show c.2926+3214_2926+3215insTGTGGGGGAGGGGTGGGTTTGTTTAT AGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP4F11_chr19_15907377_15939529	15933504	G G	GCGGGGAG others(94): Show GCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAG GAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGA GT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0009 a0002c0001t0035g0009	1	384	0.0026	101	c.198 others(116): Show c.198+706_198+707insACTCACTCATTCCTCTGCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCCCG	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650812	T T	TTCTTTCT others(94): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCTCTCT TC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0349 a0001c0002t0001g0349	1	292	0.0034	101	c.918 others(116): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTTCCTTCCTTC CATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCTC TCTTCTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650816	T T	TTCTTTCT others(94): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCTCTCT TC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0366 a0001c0002t0001g0366	1	309	0.0032	101	c.918 others(116): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TCTCTCTTCTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650820	T T	TTCTTTCT others(94): Show TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCATCTTT CTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT TC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01516.hp2 HG01517.hp1 HG00741.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0338 a0001c0002t0001g0024 a0001c0002t0001g0338	3	316	0.0095	101	c.918 others(116): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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