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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
BTBD7_chr14_93232550_93338036	93300738	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 NA18949.hp2 others(3): Show HG00558.hp2 HG02027.hp1 NA18949.hp2 NA18955.hp2 NA18972.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0044 a0002c0002t0008 a0002c0002t0044	a0002c0002t0008g0135 a0002c0002t0008g0141 a0002c0002t0008g0142 others(3): Show a0002c0002t0008g0135 a0002c0002t0008g0141 a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0144 a0002c0002t0044g0140	6	370	0.0162	-38	c.-10 others(57): Show c.-106-4619_-106-4582delTATACACACACACACACACACACACA CACACACACACA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10					chr14	TogoVar
BTBD9_chr6_38163451_38644929	38266587	GGAAAGAA others(31): Show GGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0031 a0001c0001t0081g0031	1	214	0.0047	-38	c.145 others(59): Show c.1455-10109_1455-10072delTTTCTTTCTTTCTTTCTTTCCTTT CTTTCCTTTCTTTC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10					chr6	TogoVar
BTBD9_chr6_38163451_38644929	38465723	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02572.hp2 others(1): Show HG01884.hp1 HG02145.hp1 HG02572.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0073 a0001c0001t0085 others(1): Show a0001c0001t0006 a0001c0001t0073 a0001c0001t0085 a0001c0001t0126	a0001c0001t0006g0015 a0001c0001t0073g0053 a0001c0001t0085g0014 others(1): Show a0001c0001t0006g0015 a0001c0001t0073g0053 a0001c0001t0085g0014 a0001c0001t0126g0188	4	222	0.0180	-38	c.115 others(61): Show c.1154+111839_1154+111876delCATACATATATATATATATATA TATATATATATATATA		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10					chr6	TogoVar
C10orf67_chr10_23197696_23349797	23305484	TAAAAAGA others(31): Show TAAAAAGAAAAGATTAAAAAATGGGCCAAGGCCTAAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	324	0.0031	-38	c.547 others(55): Show c.547-2063_547-2026delTATTTAGGCCTTGGCCCATTTTTTAATC TTTTCTTTTT		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	4/15					chr10	TogoVar
C10orf67_chr10_23197696_23349797	23323916	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18974.hp1 NA18959.hp2 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0251 a0001c0003t0003g0256 a0001c0003t0003g0251 a0001c0003t0003g0256	2	324	0.0062	-38	c.328 others(55): Show c.328-1417_328-1380delGTATATATATATATATATATATATATAT ATATATATAT		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15					chr10	TogoVar
C13orf46_chr13_113948705_113979076	113976169	CGGGTCCC others(31): Show CGGGTCCCGCCCACCACACAGATTCAATCACCTCCCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp1 others(9): Show HG01109.hp1 HG01243.hp2 HG01891.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03209.hp1 HG03540.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0053 a0001c0001t0054	a0001c0001t0002g0057 a0001c0001t0007g0008 a0001c0001t0013g0034 others(4): Show a0001c0001t0002g0057 a0001c0001t0007g0008 a0001c0001t0013g0034 a0001c0001t0013g0110 a0001c0001t0013g0113 a0001c0001t0053g0112 a0001c0001t0054g0111	12	412	0.0291	-38	c.-22 others(49): Show c.-2210_-2173delAGTGGGAGGTGATTGAATCTGTGTGGTGGGCGGG ACCC		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding				2094		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113976207	TGGGTCCC others(31): Show TGGGTCCCGCCCACCACACAGATTCAATCACCTCCCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01978.hp2 others(17): Show HG01167.hp1 HG01169.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG03017.hp2 HG03491.hp2 HG03834.hp1 HG04184.hp2 NA18947.hp1 NA18954.hp1 NA18971.hp1 NA18999.hp1 NA19074.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0032 a0002c0002t0004 a0002c0002t0038 a0002c0002t0039	a0001c0001t0001g0004 a0001c0001t0002g0024 a0001c0001t0002g0054 others(11): Show a0001c0001t0001g0004 a0001c0001t0002g0024 a0001c0001t0002g0054 a0001c0001t0008g0007 a0001c0001t0032g0123 a0001c0001t0032g0124 a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0066 a0002c0002t0038g0065 a0002c0002t0039g0061	20	401	0.0499	-38	c.-22 others(49): Show c.-2248_-2211delGGTGGGAGGTGATTGAATCTGTGTGGTGGGCGGG ACCC		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding				2132		chr13	TogoVar
C19orf12_chr19_29693937_29720261	29696620	ACCCAGAC others(31): Show ACCCAGACACCTGACACCCAGACACCTGACACCTGGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	416	0.0024	-38	c.60 others(49): Show c.6054_*6091delGGTCCAGGTGTCAGGTGTCTGGGTGTCAGGTGTC TGGG		C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding				2316		chr19	TogoVar
C19orf25_chr19_1468201_1484215	1482193	CGGGGCCG others(31): Show CGGGGCCGTCACACGCTGCTCGGGGACACGCACGCAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	399	0.0025	-38	c.-30 others(49): Show c.-3071_-3034delCTTTGCGTGCGTGTCCCCGAGCAGCGTGTGACGG CCCC		C19orf25	ENSG00000119559.17	transcript	ENST00000585675.6	protein_coding				2979		chr19	TogoVar
C1QTNF1_chr17_79019169_79054788	79030459	TTTTCTTT others(31): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0166 a0001c0003t0007g0166	1	365	0.0027	-38	c.-15 others(55): Show c.-15+5993_-15+6030delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf87_chr1_59985394_60078770	60064270	CATATATA others(31): Show CATATATAAATTATATATTATATATATATTTTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG03195.hp2 others(2): Show HG01891.hp2 HG02976.hp2 HG03195.hp2 HG03516.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0002 a0001c0001t0001 a0005c0007t0002	a0001c0001t0001g0273 a0005c0007t0002g0270 a0005c0007t0002g0271 others(2): Show a0001c0001t0001g0273 a0005c0007t0002g0270 a0005c0007t0002g0271 a0005c0007t0002g0272 a0005c0007t0002g0274	5	322	0.0155	-38	c.107 others(55): Show c.107+8229_107+8266delTATATATAAAATATATATATAATATATA ATTTATATAT		C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11					chr1	TogoVar
C2CD2_chr21_41880112_41959018	41905312	TTTTTTTT others(31): Show TTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01884.hp2 others(29): Show HG01257.hp1 HG01258.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0001c0021 others(9): Show a0001c0003 a0001c0005 a0001c0021 a0001c0023 a0001c0032 a0001c0042 a0002c0008 a0002c0012 a0002c0018 a0002c0027 a0003c0015 a0003c0034	a0001c0003t0001 a0001c0003t0005 a0001c0003t0035 others(16): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0035 a0001c0005t0005 a0001c0005t0044 a0001c0021t0005 a0001c0023t0005 a0001c0032t0010 a0001c0042t0046 a0002c0008t0001 a0002c0008t0005 a0002c0008t0009 a0002c0008t0045 a0002c0012t0012 a0002c0018t0022 a0002c0027t0009 a0003c0015t0005 a0003c0015t0010 a0003c0034t0004	a0001c0003t0001g0349 a0001c0003t0005g0024 a0001c0003t0005g0263 others(28): Show a0001c0003t0001g0349 a0001c0003t0005g0024 a0001c0003t0005g0263 a0001c0003t0035g0240 a0001c0005t0005g0001 a0001c0005t0005g0156 a0001c0005t0005g0221 a0001c0005t0005g0348 a0001c0005t0005g0360 a0001c0005t0044g0254 a0001c0021t0005g0235 a0001c0023t0005g0234 a0001c0032t0010g0355 a0001c0042t0046g0144 a0002c0008t0001g0225 a0002c0008t0005g0249 a0002c0008t0005g0251 a0002c0008t0005g0260 a0002c0008t0005g0354 a0002c0008t0009g0161 a0002c0008t0045g0226 a0002c0012t0012g0241 a0002c0012t0012g0262 a0002c0012t0012g0282 a0002c0018t0022g0285 a0002c0027t0009g0325 a0003c0015t0005g0329 a0003c0015t0005g0330 a0003c0015t0005g0361 a0003c0015t0010g0270 a0003c0034t0004g0228	32	394	0.0812	-38	c.143 others(55): Show c.1432+374_1432+411delGCGAGACCCTGTCTCTTAAAAAAAAAAA AAAAAAAAAA		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	11/13					chr21	TogoVar
C2orf16_chr2_27532386_27587722	27557879	CCCCTCCC others(31): Show CCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG01981.hp2 others(7): Show HG00558.hp2 HG01255.hp1 HG01981.hp2 HG02027.hp1 NA18967.hp1 NA18977.hp2 NA18986.hp1 NA18999.hp1 NA19000.hp1 NA19089.hp1	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0044	a0001c0001 a0001c0050 a0004c0004 others(3): Show a0001c0001 a0001c0050 a0004c0004 a0009c0018 a0009c0061 a0044c0062	a0001c0001t0001 a0001c0050t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0001c0050t0001 a0004c0004t0001 a0009c0018t0001 a0009c0061t0001 a0044c0062t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0098 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0050t0001g0089 a0004c0004t0001g0052 a0009c0018t0001g0125 a0009c0061t0001g0126 a0044c0062t0001g0055	10	319	0.0313	-38	c.145 others(55): Show c.145-7454_145-7417delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCC		C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176948	CATATCTG others(31): Show CATATCTGTATACATATGTATACATATATACAGAAATGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02615.hp2 others(6): Show HG02109.hp1 HG02486.hp2 HG02615.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 others(6): Show a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0190	9	340	0.0265	-38	c.366 others(55): Show c.366+3759_366+3796delACATTTCTGTATATATGTATACATATGT ATACAGATAT		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8					chr2	TogoVar
C2orf92_chr2_97664713_97708066	97701148	ATTTAGAT others(31): Show ATTTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0171 a0006c0011t0002g0171	1	308	0.0032	-38	c.515 others(47): Show c.515-3_549delTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC TT	p.Asp others(5): Show p.Asp172fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	7/8	515/798	172/265		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1098559	GGTGAGAT others(31): Show GGTGAGATAAAGCAGACACGAGTGGAGCTGCCACGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp1 others(18): Show HG00323.hp2 HG00558.hp2 HG00621.hp1 HG01099.hp2 HG01123.hp2 HG02080.hp2 HG03704.hp1 NA18940.hp1 NA18952.hp2 NA18955.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18999.hp2 NA19011.hp2 NA19054.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 others(18): Show a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0011g0232	21	324	0.0648	-38	c.129 others(57): Show c.129+28660_129+28697delTGAGCGTGGCAGCTCCACTCGTGTCT GCTTTATCTCAC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4					chr7	TogoVar
C7orf50_chr7_992006_1143247	1098635	AGTGAGAT others(31): Show AGTGAGATAAAGCAGACACGAGTGGAGCTGCCACGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(16): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02155.hp1 HG03239.hp1 HG04228.hp1 NA18961.hp1 NA18965.hp2 NA18994.hp2 NA19240.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0003c0009t0006	a0001c0001t0005g0297 a0001c0001t0006g0081 a0001c0001t0006g0082 others(16): Show a0001c0001t0005g0297 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0017g0086 a0001c0001t0017g0098 a0001c0001t0021g0088 a0003c0009t0006g0003	19	323	0.0588	-38	c.129 others(57): Show c.129+28584_129+28621delCGAGCGTGGCAGCTCCACTCGTGTCT GCTTTATCTCAC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4					chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051814	CTTCTCTT others(31): Show CTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(44): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp1 HG04184.hp2 NA18942.hp1 NA18952.hp1 NA18998.hp1 NA19004.hp1 NA19065.hp2 NA19086.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0002c0001t0010	a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 others(36): Show a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0065 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0004t0001g0012 a0001c0004t0001g0196 a0001c0004t0001g0201 a0002c0001t0001g0013 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0207 a0002c0001t0001g0218 a0002c0001t0001g0222 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0234 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0257 a0002c0001t0001g0291 a0002c0001t0010g0216	47	389	0.1208	-38	c.606 others(53): Show c.606-881_606-844delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr7	TogoVar
C8orf33_chr8_145047467_145061030	145052237	GCGCCCCG others(31): Show GCGCCCCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-38	c.-25 others(47): Show c.-254_-217delCGCCCCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCC CC		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding				229		chr8	TogoVar
C8orf76_chr8_123214967_123246377	123240213	CTATCTCA others(31): Show CTATCTCATAACCAGAGTTTTTTTAATGTTCTGCCACAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	228	0.0044	-38	c.117 others(54): Show c.117+979_117+1016delATGTGGCAGAACATTAAAAAAACTCTGGT TATGAGATA		C8orf76	ENSG00000189376.12	transcript	ENST00000276704.6	protein_coding	1/5					chr8	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02572.hp2 others(3): Show HG01884.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0003g0137 a0001c0001t0004g0071 a0001c0001t0004g0146	6	31	0.1935	-38	c.279 others(57): Show c.279+52123_279+52160delATATATATATATATATATATATATAT ATATATATATAT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8					chr17	TogoVar
CA13_chr8_85240458_85289073	85283441	ATTTTTTA others(31): Show ATTTTTTATTTGCTGTCTTTGGTAATTATCTCTCTGCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0071 a0001c0001t0024g0071	1	348	0.0029	-38	c.20 others(49): Show c.2093_*2130delTTTTTTATTTGCTGTCTTTGGTAATTATCTCTCT GCTT		CA13	ENSG00000185015.8	transcript	ENST00000321764.4	protein_coding	7/7			2093		chr8	TogoVar
CA8_chr8_60180412_60286400	60276996	GTAATCCC others(31): Show GTAATCCCAGCTACTTGGGGAGGCTGAGGCAAGAGAATC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0096 a0001c0002t0005g0096	1	342	0.0029	-38	c.292 others(55): Show c.292+2655_292+2692delGATTCTCTTGCCTCAGCCTCCCCAAGTA GCTGGGATTA		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	2/8					chr8	TogoVar
CA8_chr8_60180412_60286400	60281333	GTGTTCCA others(31): Show GTGTTCCAGAGACCCGCGTGGGAAGCGCGTCCGGAGGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0015 a0001c0002t0025g0015	1	341	0.0029	-38	c.-22 others(47): Show c.-224_-187delGGCCTCCGGACGCGCTTCCCACGCGGGTCTCTGGAA CA		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	1/9			187		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49318489	AGGGAAAG others(31): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	316	0.0032	-38	c.835 others(55): Show c.835-7534_835-7497delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCC		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10					chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61683463	AAGTGGGA others(31): Show AAGTGGGAGAATCGCTTGAGCCCAGGAGGCTGAGGCTGC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	372	0.0054	-38	c.334 others(55): Show c.334+2156_334+2193delGGAGAATCGCTTGAGCCCAGGAGGCTGA GGCTGCAGTG		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1A_chr19_13201442_13511479	13497503	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0083 a0001c0058t0001g0083	1	213	0.0047	-38	c.293 others(55): Show c.293+8391_293+8428delATATATATATATATATATATTTTTTTTT TTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46					chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497513	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0123 a0001c0031t0003g0123	1	214	0.0047	-38	c.293 others(55): Show c.293+8381_293+8418delATATATATATATATATATATATATATAT ATTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46					chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497515	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0044 a0044	a0044c0052 a0044c0052	a0044c0052t0002 a0044c0052t0002	a0044c0052t0002g0155 a0044c0052t0002g0155	1	207	0.0048	-38	c.293 others(55): Show c.293+8379_293+8416delATATATATATATATATATATATATATAT ATATTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46					chr19	TogoVar
CACNB2_chr10_18135424_18548557	18358515	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG00741.hp2 others(52): Show HG00408.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18984.hp2 NA18994.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0047 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0002t0022 a0001c0002t0025 a0001c0002t0042 a0001c0002t0043 a0001c0002t0056 a0001c0002t0057 a0001c0004t0010 a0001c0004t0037 a0001c0006t0048 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0051 a0002c0003t0058	a0001c0001t0001g0034 a0001c0001t0001g0079 a0001c0001t0001g0127 others(52): Show a0001c0001t0001g0034 a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0171 a0001c0001t0003g0026 a0001c0001t0003g0094 a0001c0001t0003g0172 a0001c0001t0003g0199 a0001c0001t0004g0153 a0001c0001t0004g0161 a0001c0001t0006g0005 a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0008g0007 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0009g0177 a0001c0001t0012g0029 a0001c0001t0013g0198 a0001c0001t0015g0181 a0001c0001t0020g0014 a0001c0001t0021g0126 a0001c0001t0026g0013 a0001c0001t0035g0176 a0001c0001t0036g0194 a0001c0001t0039g0021 a0001c0001t0047g0195 a0001c0002t0002g0035 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0091 a0001c0002t0002g0129 a0001c0002t0005g0057 a0001c0002t0014g0018 a0001c0002t0014g0019 a0001c0002t0022g0104 a0001c0002t0022g0145 a0001c0002t0025g0016 a0001c0002t0042g0102 a0001c0002t0043g0137 a0001c0002t0056g0054 a0001c0002t0057g0155 a0001c0004t0010g0084 a0001c0004t0010g0085 a0001c0004t0010g0122 a0001c0004t0037g0139 a0001c0006t0048g0067 a0002c0003t0016g0022 a0002c0003t0017g0110 a0002c0003t0018g0078 a0002c0003t0018g0111 a0002c0003t0027g0012 a0002c0003t0051g0024 a0002c0003t0058g0053	55	200	0.2750	-38	c.214 others(57): Show c.214-43390_214-43353delCTCTCTCTCTCTCTCTCTCGCTCTCT CTCTCTCTCTCT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358515	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00735.hp1 others(68): Show HG00099.hp1 HG00408.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18955.hp1 NA18978.hp2 NA18984.hp2 NA18994.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0029 a0001c0001t0057 a0001c0001t0065 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0043 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0059 a0001c0004t0009 a0001c0004t0019 a0001c0004t0027 a0001c0008t0064 a0002c0003t0008 a0002c0003t0017 a0002c0003t0018 a0002c0003t0022 a0002c0003t0066 a0003c0007t0002 a0004c0006t0002	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 others(68): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0003g0167 a0001c0001t0003g0181 a0001c0001t0003g0235 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0005g0012 a0001c0001t0005g0188 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0007g0151 a0001c0001t0007g0161 a0001c0001t0007g0179 a0001c0001t0007g0251 a0001c0001t0013g0182 a0001c0001t0016g0238 a0001c0001t0029g0232 a0001c0001t0057g0180 a0001c0001t0065g0242 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0002g0254 a0001c0002t0004g0194 a0001c0002t0004g0199 a0001c0002t0006g0105 a0001c0002t0006g0106 a0001c0002t0006g0152 a0001c0002t0006g0160 a0001c0002t0006g0165 a0001c0002t0011g0259 a0001c0002t0011g0260 a0001c0002t0011g0261 a0001c0002t0043g0186 a0001c0002t0046g0228 a0001c0002t0047g0166 a0001c0002t0048g0155 a0001c0002t0049g0295 a0001c0002t0059g0011 a0001c0004t0009g0201 a0001c0004t0009g0202 a0001c0004t0019g0164 a0001c0004t0027g0187 a0001c0008t0064g0066 a0002c0003t0008g0013 a0002c0003t0008g0233 a0002c0003t0008g0253 a0002c0003t0008g0258 a0002c0003t0017g0162 a0002c0003t0018g0239 a0002c0003t0022g0266 a0002c0003t0066g0185 a0003c0007t0002g0240 a0004c0006t0002g0170	71	300	0.2367	-38	c.51+ others(55): Show c.51+17557_51+17594delCTCTCTCTCTCTCTCTCTCGCTCTCTCT CTCTCTCTCT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG7_chr19_53904278_53948950	53916342	GGTACCAA others(31): Show GGTACCAAGGCCCAGAATTGCATAGAGAGTTGCCCATAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00597.hp1 others(130): Show HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18949.hp1 NA18972.hp2 NA18979.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0339 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0004g0005 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0216 a0001c0001t0004g0346 a0001c0001t0005g0064 a0001c0001t0005g0340 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0343 a0001c0001t0007g0072 a0001c0001t0007g0075 a0001c0001t0008g0031 a0001c0001t0010g0233 a0001c0001t0011g0341 a0001c0001t0012g0219 a0001c0001t0013g0013 a0001c0001t0014g0207 a0001c0001t0015g0041 a0001c0001t0016g0060 a0001c0001t0017g0071 a0001c0001t0020g0066 a0001c0001t0021g0076 a0001c0001t0023g0213 a0001c0001t0024g0018 a0001c0002t0002g0025	133	364	0.3654	-38	c.424 others(53): Show c.424+873_424+910delTAAGTACCAAGGCCCAGAATTGCATAGAGA GTTGCCCA		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5				INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85568413	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01069.hp1 others(29): Show HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02015.hp2 HG02129.hp2 HG02257.hp2 HG02293.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG03239.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19009.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0002t0046	a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0070 others(29): Show a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0113 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0007g0082 a0001c0001t0010g0020 a0001c0001t0012g0057 a0001c0001t0020g0043 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072 a0001c0001t0041g0056 a0001c0001t0044g0041 a0001c0002t0046g0139	32	136	0.2353	-38	c.62- others(57): Show c.62-158107_62-158070delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9				INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122645329	ATATACAC others(31): Show ATATACACACATGTACATGTGTGTGTATACATGTACATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0004 a0002c0006t0001 a0002c0006t0002 a0001c0002t0004 a0002c0006t0001 a0002c0006t0002	a0001c0002t0004g0068 a0002c0006t0001g0059 a0002c0006t0002g0055 a0001c0002t0004g0068 a0002c0006t0001g0059 a0002c0006t0002g0055	3	124	0.0242	-38	c.787 others(57): Show c.787-16039_787-16002delCATGTACATGTATACACACACATGTA CATGTGTGTATA		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29					chr7	TogoVar
CALN1_chr7_71774491_72417338	71798089	CAGAGAGA others(31): Show CAGAGAGAGAGACAGAGAGAGACAGAGACAGAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02896.hp1 NA19002.hp1 others(1): Show HG02132.hp1 HG02896.hp1 NA19002.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0001t0032	a0001c0001t0002g0054 a0001c0001t0008g0040 a0001c0001t0025g0016 others(1): Show a0001c0001t0002g0054 a0001c0001t0008g0040 a0001c0001t0025g0016 a0001c0001t0032g0091	4	118	0.0339	-38	c.659 others(57): Show c.659-10225_659-10188delCTCTGTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTCT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6					chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691366	TATATATA others(31): Show TATATATATATAAATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0079 a0001c0002t0010g0079	1	214	0.0047	-38	c.299 others(57): Show c.299+24568_299+24605delAATATATATATATATATATATATATA AATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691389	ATATATAT others(31): Show ATATATATATATATAAATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	214	0.0047	-38	c.299 others(57): Show c.299+24581_299+24618delATATATATATATAAATATATATATAT ATATATTTTTTT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12734339	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0008g0113 a0001c0002t0008g0205	2	214	0.0093	-38	c.300 others(57): Show c.300-26607_300-26570delAAAAAATATATATATATATATATATA TATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227067	GTCATGGG others(31): Show GTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03654.hp1 NA18906.hp1 HG01257.hp1 HG03654.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0012 a0001c0002t0001g0143 a0001c0007t0001g0157 a0001c0002t0001g0012 a0001c0002t0001g0143 a0001c0007t0001g0157	3	232	0.0129	-38	c.146 others(55): Show c.1469-461_1469-424delTCCACCTTGGTCCCCTCACGCACCCCCA TCCCCCATGA		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227159	AGGTGCAG others(31): Show AGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	184	0.0054	-38	c.146 others(55): Show c.1469-553_1469-516delCTCCTCTGTCCCCTGCACCCTCCTCTGT CCCCTGCACC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227635	AGGGTCTG others(31): Show AGGGTCTGGAGGACAGAGGGAGAGTGTAGGGAACAGAGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	240	0.0042	-38	c.146 others(56): Show c.1469-1029_1469-992delCCTCTGTTCCCTACACTCTCCCTCTGT CCTCCAGACCC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227670	GAGGGGGT others(31): Show GAGGGGGTGTGGGGGACAGAAAAGGGCGTGAAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG04184.hp2 others(1): Show HG02451.hp1 HG02559.hp2 HG04184.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0001c0001t0010 a0002c0005t0001 a0001c0001t0005 a0001c0001t0010 a0002c0005t0001	a0001c0001t0005g0128 a0001c0001t0010g0175 a0001c0001t0010g0176 others(1): Show a0001c0001t0005g0128 a0001c0001t0010g0175 a0001c0001t0010g0176 a0002c0005t0001g0170	4	139	0.0288	-38	c.146 others(57): Show c.1469-1064_1469-1027delTGGTCCCTTCACGCCCTTTTCTGTCC CCCACACCCCCT		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3868084	CGTGGGCT others(31): Show CGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGAT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0105 a0002c0001t0004g0105	1	444	0.0023	-38	c.134 others(57): Show c.1341+1365_1341+1402delATCAGTTAGACGGCGCCTGCTTCTCC CCCAGAGCCCAC		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15					chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121294686	AAATGGGG others(31): Show AAATGGGGCTAAATCCTAGCAACACTGCAGGATTTCTGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0023 a0002c0015t0023	a0002c0015t0023g0328 a0002c0015t0023g0328	1	328	0.0030	-38	c.-60 others(55): Show c.-60+1914_-60+1951delACAGAAATCCTGCAGTGTTGCTAGGATT TAGCCCCATT		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	1/16					chr12	TogoVar
CAMTA1_chr1_6780454_7774706	7310671	CCTTTCTT others(31): Show CCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02523.hp2 HG02132.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0011 a0001c0001t0001g0040	2	48	0.0417	-38	c.438 others(57): Show c.438+61056_438+61093delCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCT		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7515016	TCACCTGG others(31): Show TCACCTGGGATCATCAGGCTGGTCCTTCCCGGCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0050 a0001c0005t0009g0050	1	58	0.0172	-38	c.510 others(57): Show c.510+47141_510+47178delTCCCGGCTCCCTCCACCTGGGATCAT CAGGCTGGTCCT		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751574	GAAGAAAG others(31): Show GAAGAAAGAAACAAAGAAAGAAAGAAAGAAAGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG02717.hp1 others(2): Show HG00099.hp1 HG00733.hp2 HG02717.hp1 HG03239.hp1 NA18975.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0002 a0001c0005 a0004c0032 others(1): Show a0001c0002 a0001c0005 a0004c0032 a0015c0024	a0001c0002t0001 a0001c0005t0001 a0004c0032t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0004c0032t0001 a0015c0024t0001	a0001c0002t0001g0293 a0001c0002t0001g0296 a0001c0005t0001g0295 others(2): Show a0001c0002t0001g0293 a0001c0002t0001g0296 a0001c0005t0001g0295 a0004c0032t0001g0294 a0015c0024t0001g0297	5	390	0.0128	-38	c.214 others(55): Show c.214-3752_214-3715delCAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(31): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02486.hp1 others(6): Show HG01243.hp2 HG02258.hp2 HG02486.hp1 HG03017.hp2 HG03130.hp1 NA18959.hp2 NA18987.hp2 NA18988.hp2 NA19082.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0004c0007 a0006c0014	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0004c0007t0001 a0004c0007t0002 a0006c0014t0001	a0001c0001t0001g0240 a0001c0003t0001g0333 a0001c0003t0001g0343 others(6): Show a0001c0001t0001g0240 a0001c0003t0001g0333 a0001c0003t0001g0343 a0001c0005t0001g0052 a0001c0005t0001g0069 a0001c0005t0001g0075 a0004c0007t0001g0245 a0004c0007t0002g0074 a0006c0014t0001g0243	9	290	0.0310	-38	c.214 others(55): Show c.214-3726_214-3689delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890533	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01069.hp2 others(19): Show HG00438.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01934.hp1 HG01975.hp2 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03710.hp1 NA18950.hp1 NA18957.hp2 NA18966.hp1 NA18968.hp1 NA18972.hp2 NA18983.hp2 NA18987.hp1 NA19057.hp2 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0023 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028	a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0131 others(19): Show a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0152 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0339 a0001c0001t0018g0132 a0001c0001t0023g0153 a0001c0001t0026g0170 a0001c0001t0027g0143 a0001c0001t0028g0142	22	236	0.0932	-38	c.103 others(55): Show c.103+2371_104-2396delTATATATACACATATATATATATATATA TATATATATA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890561	TATATATA others(31): Show TATATATACACATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	351	0.0028	-38	c.103 others(55): Show c.103+2373_104-2394delTATATACACATATATATATATATATATA TATATATACA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr7	TogoVar

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