Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMKMT_chr2_44356947_44777592	44410218	T T	TAGCTTAG others(44): Show TAGCTTAGCATAAACCATAAATTGAAATGTCATCAGTAGATCAGTAAATA TG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	63	0.0159	51	c.376 others(70): Show c.376+19915_376+19916insCTTAGCATAAACCATAAATTGAAATG TCATCAGTAGATCAGTAAATATGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410218	T T	TAGCTTAG others(44): Show TAGCTTAGCATAAACCATAAATTGAAATGTCATCAGTAGATTAGTAAATA TG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(117): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18945.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18974.hp1 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(117): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0012 a0001c0001t0005g0070 a0001c0001t0005g0101 a0001c0002t0001g0053 a0001c0002t0001g0107 a0001c0002t0002g0028 a0001c0004t0001g0063	120	182	0.6593	51	c.376 others(70): Show c.376+19915_376+19916insCTTAGCATAAACCATAAATTGAAATG TCATCAGTAGATTAGTAAATATGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410218	T T	TAGCTTAG others(44): Show TAGCTTAGCATAAACCATAAGTTGAAATGTCATCAGTAGATTAGTAAATA TG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01106.hp2 others(12): Show HG00738.hp1 HG00741.hp1 HG01106.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045	15	77	0.1948	51	c.376 others(70): Show c.376+19915_376+19916insCTTAGCATAAACCATAAGTTGAAATG TCATCAGTAGATTAGTAAATATGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410245	A A	AGTCTATA others(44): Show AGTCTATAGACTATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	198	0.0051	51	c.376 others(70): Show c.376+19940_376+19941insGTCTATAGACTATATATATATATATA TATATATATATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588600	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02559.hp2 HG02895.hp1 others(2): Show HG01099.hp1 HG02559.hp2 HG02895.hp1 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0121 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0003g0034	5	113	0.0442	51	c.377 others(72): Show c.377-115677_377-115676insGTCAGCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588822	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03927.hp2 HG03579.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0022 a0001c0001t0001g0072 a0001c0001t0002g0022	2	163	0.0123	51	c.377 others(72): Show c.377-115454_377-115453insTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAND2_chr3_12791680_12839803	12838567	C C	CCTACAAA others(44): Show CCTACAAACCATTTTTTTGGAAAATATAATTAGTGGGGGATAGAAGAAGG TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0295 a0002c0001t0001g0295	1	376	0.0027	51	c.45 others(62): Show c.4585_*4586insCTACAAACCATTTTTTTGGAAAATATAATTAGTG GGGGATAGAAGAAGGTA	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding		3765		chr3	TogoVar
CANT1_chr17_78986716_79014764	79004330	G G	GTTAGGGA others(44): Show GTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGGGGGG GA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	353	0.0028	51	c.-14 others(70): Show c.-147+5333_-147+5334insTCCCCCCCAACTCCTCTCCCTAACTC CCCTCTCCCTAACTCCCCTCCCTAA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	106	0.0094	51	c.721 others(66): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(44): Show CCACACTCACACATACACACTCACATACAGACACAACCACACCACACTCA CA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	22	0.0455	51	c.193 others(68): Show c.1938+259_1938+260insTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(44): Show CCACACTCACACATACACACTCACATACAGACACAACCACACCACACTCA CA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	265	0.0038	51	c.193 others(68): Show c.1938+509_1938+510insTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544718	T T	TCGTCTCC others(44): Show TCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0348 a0001c0004t0001g0348	1	408	0.0025	51	c.-22 others(68): Show c.-22-2097_-22-2096insTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544874	T T	TCACGTCG others(44): Show TCACGTCGCCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGTCTCCC CC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0390 a0001c0002t0010g0390	1	348	0.0029	51	c.-22 others(68): Show c.-22-1936_-22-1935insCCTCCCCTCACGTCGTCGTCTCCCCCCA CGTCGTCGTCTCCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098582	C C	CGGCTGGC others(44): Show CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGGG GT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03831.hp2 HG03942.hp1 HG00597.hp1 HG03831.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0088 a0001c0001t0002g0217 a0001c0001t0009g0081 a0001c0001t0002g0088 a0001c0001t0002g0217 a0001c0001t0009g0081	3	321	0.0093	51	c.297 others(68): Show c.297+4780_297+4781insTGGGGGGGCTGACCCCCCCCATATCCCT CCCAGACGGGGTGGCTGGCCGGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(44): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0034 a0002c0002t0014g0034	1	189	0.0053	51	c.-35 others(58): Show c.-35_-34insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CARD19_chr9_93091217_93118283	93115945	G G	GCTAAGCT others(44): Show GCTAAGCTTTGCTTCTCTCTCTCTATCCTTCTCTTTATCCTTCTCTATTG CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0010 a0005c0008t0002g0010	1	356	0.0028	51	c.28 others(62): Show c.2838_*2839insCTAAGCTTTGCTTCTCTCTCTCTATCCTTCTCTT TATCCTTCTCTATTGCT	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2663		chr9	TogoVar
CARD9_chr9_136358956_136378669	136378012	C C	CCCAGGTC others(44): Show CCCAGGTCCAGGGCCCCCTTCTCAGGCCCAGGCTGGGGTAGGGGCGGCTT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	51	c.-45 others(62): Show c.-4548_-4498dupAGAAGCCGCCCCTACCCCAGCCTGGGCCTGAGAA GGGGGCCCTGGACCTGG	CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding		4344		chr9	TogoVar
CARMIL1_chr6_25274374_25625530	25450975	T T	TCTCTCTT others(44): Show TCTCTCTTCTCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT CC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0033 a0004c0011t0003g0033	1	169	0.0059	51	c.614 others(66): Show c.614+265_614+266insTCTCTTCTCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450975	T T	TTCTCTCC others(44): Show TTCTCTCCTCTCCTCTCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCT CC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01433.hp2 others(3): Show HG00597.hp1 HG01074.hp1 HG01433.hp2 HG02135.hp1 HG02257.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0013 a0001c0006 a0001c0008 a0002c0013	a0001c0006t0001 a0001c0006t0003 a0001c0006t0014 others(2): Show a0001c0006t0001 a0001c0006t0003 a0001c0006t0014 a0001c0008t0010 a0002c0013t0013	a0001c0006t0001g0020 a0001c0006t0003g0081 a0001c0006t0003g0094 others(3): Show a0001c0006t0001g0020 a0001c0006t0003g0081 a0001c0006t0003g0094 a0001c0006t0014g0154 a0001c0008t0010g0147 a0002c0013t0013g0186	6	174	0.0345	51	c.614 others(66): Show c.614+264_614+265insTCTCTCCTCTCCTCTCCTCTCTTCTCTTCT CCTCTCCCCTCTCCCCTCTCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	156	0.0064	51	c.615 others(68): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG02280.hp1 others(4): Show HG00438.hp2 HG01243.hp2 HG02280.hp1 HG02630.hp2 HG03041.hp1 HG03579.hp2 NA18946.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0003c0005 others(1): Show a0001c0001 a0003c0004 a0003c0005 a0006c0009	a0001c0001t0001 a0001c0001t0032 a0003c0004t0008 others(2): Show a0001c0001t0001 a0001c0001t0032 a0003c0004t0008 a0003c0005t0011 a0006c0009t0002	a0001c0001t0001g0005 a0001c0001t0001g0087 a0001c0001t0032g0188 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0087 a0001c0001t0032g0188 a0003c0004t0008g0161 a0003c0005t0011g0187 a0006c0009t0002g0274	7	271	0.0258	51	c.-24 others(70): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	193	0.0052	51	c.39 others(62): Show c.3939_*3940insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	316	0.0032	51	c.277 others(66): Show c.277-547_277-546insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244621167	A A	ATATATAG others(44): Show ATATATAGATATATTTATATAAATATATCTATATATTATATATAGATATA TT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	63	0.0159	51	c.264 others(70): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAGATATATTTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC105_chr19_15005726_15028276	15018713	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	437	0.0023	51	c.676 others(68): Show c.676-1748_676-1747insTATATATATATATATATATATATATATA TATATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	249	0.0040	51	c.676 others(68): Show c.676-1746_676-1745insTATATATATATATATATATATATATATA TATATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC125_chr5_69275175_69337801	69325899	G G	GTGATGGC others(44): Show GTGATGGCATCCACAGCTCACTGCAGCCTCGACCTCTTAGGCTGAAGTGC AT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	340	0.0029	51	c.-40 others(68): Show c.-40-5320_-40-5319insATGCACTTCAGCCTAAGAGGTCGAGGCT GCAGTGAGCTGTGGATGCCATCA	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	1/11			chr5	TogoVar
CCDC187_chr9_136244973_136309094	136259302	G G	GGGGGGAG others(44): Show GGGGGGAGGGGTACCAAGATGAAGATCAAGTCACAGATTGGCAGAATGTT GT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0154 a0154	a0154c0199 a0154c0199	a0154c0199t0003 a0154c0199t0003	a0154c0199t0003g0328 a0154c0199t0003g0328	1	339	0.0029	51	c.429 others(66): Show c.4296+60_4296+61insACAACATTCTGCCAATCTGTGACTTGATCT TCATCTTGGTACCCCTCCCCC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	21/25			chr9	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(44): Show AAGTATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp2 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0226 a0001c0001t0002g0227	2	199	0.0101	51	c.106 others(68): Show c.106-1129_106-1128insATATATATATATATATATATATATATAT ATATATATATATATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(44): Show TATATATATATATATATAATATATATATATATATATATATATATATATAA AA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	204	0.0049	51	c.106 others(68): Show c.106-1145_106-1144insTTTTATATATATATATATATATATATAT ATATATTATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA AA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	204	0.0049	51	c.106 others(68): Show c.106-1145_106-1144insTTTATATATATATATATATATATATATA TATATATATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC38_chr12_95862048_95947614	95907478	T T	TGGGGCGG others(44): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAG AC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01109.hp1 others(30): Show HG00558.hp1 HG01081.hp2 HG01109.hp1 HG01192.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02145.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 NA18906.hp2 NA18939.hp1 NA18961.hp2 NA18962.hp2 NA18981.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19088.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0006c0011 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0006c0011t0001 a0009c0018t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(29): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0005t0001g0025 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0086 a0001c0005t0001g0088 a0001c0005t0001g0178 a0001c0005t0001g0188 a0001c0005t0001g0193 a0001c0005t0001g0223 a0001c0005t0002g0272 a0001c0005t0002g0273 a0001c0005t0002g0274 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0332 a0001c0005t0002g0337 a0006c0011t0001g0194 a0006c0011t0001g0195 a0009c0018t0001g0085	33	158	0.2089	51	c.305 others(68): Show c.305-1028_305-1027insGTCTGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95907478	T T	TGGGGCGG others(44): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG AC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19055.hp1 NA19088.hp1 NA18612.hp1 NA19055.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0314 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0314	3	128	0.0234	51	c.305 others(68): Show c.305-1028_305-1027insGTCCGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(44): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02257.hp2 HG03130.hp1 others(5): Show HG01928.hp2 HG02257.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 NA18966.hp1 NA19055.hp1 NA19083.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0002 a0004c0009t0003 a0005c0010t0001	a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0002g0300 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0002g0300 a0001c0002t0001g0232 a0002c0003t0002g0288 a0002c0003t0002g0314 a0004c0009t0003g0016 a0005c0010t0001g0240	8	59	0.1356	51	c.305 others(68): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398083	C C	CGGGGGGA others(44): Show CGGGGGGAGGAAGGGGGTGGTGGGGGCGGGGAGGAAGGGGGCGGCGGGGG GT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03710.hp2 HG04204.hp2 HG02155.hp2 HG03710.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0003 a0001c0001t0001 a0001c0001t0002 a0004c0006t0003	a0001c0001t0001g0189 a0001c0001t0002g0123 a0004c0006t0003g0173 a0001c0001t0001g0189 a0001c0001t0002g0123 a0004c0006t0003g0173	3	186	0.0161	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGCGGGGAGGAAGGGGGCGGC GGGGGGTGGGGGGAGGAAGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398083	C C	CGGGGGGA others(44): Show CGGGGGGAGGAAGGGGGTGGTGGGGGCGGGGAGGAAGGGGGCGGCGGGGG TG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19091.hp1 NA18979.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0135 a0001c0001t0002g0108 a0001c0001t0002g0135	2	185	0.0108	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGCGGGGAGGAAGGGGGCGGC GGGGGTGGGGGGGAGGAAGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398083	C C	CGGGGGGA others(44): Show CGGGGGGAGGAAGGGGGTGGTGGGGGCGGGGAGGAAGGGGGGCGGCGGGG GT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	184	0.0054	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGCGGGGAGGAAGGGGGGCGG CGGGGGTGGGGGGAGGAAGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398083	C C	CGGGGGGA others(44): Show CGGGGGGAGGAAGGGGGTGGTGGGGGCGGGGGAGGAAGGGGGCGGCGGGG GT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0109 a0002c0002t0004g0109	1	184	0.0054	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGCGGGGGAGGAAGGGGGCGG CGGGGGTGGGGGGAGGAAGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398083	C C	CGGGGGGA others(44): Show CGGGGGGAGGAAGGGGGTGGTGGGGGGCGGGGAGGAAGGGGGCGGCGGGG GT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19009.hp1 HG01978.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0101 a0002c0002t0002g0137 a0001c0001t0002g0101 a0002c0002t0002g0137	2	185	0.0108	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGGCGGGGAGGAAGGGGGCGG CGGGGGTGGGGGGAGGAAGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119398094	A A	AGGGGGTG others(44): Show AGGGGGTGGTGGGGGCGGGGAGGAAGGGGGCGGCGGGGGTGGGGGGAGGA AG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	249	0.0040	51	c.91- others(68): Show c.91-30584_91-30583insTGGTGGGGGCGGGGAGGAAGGGGGCGGC GGGGGTGGGGGGAGGAAGGGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(44): Show GGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	109	0.0092	51	c.-40 others(60): Show c.-401_-400insGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(44): Show GGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	109	0.0092	51	c.-40 others(60): Show c.-401_-400insGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(44): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18960.hp1 NA18968.hp2 NA18945.hp1 NA18960.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0003g0030 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0003g0030	3	111	0.0270	51	c.-40 others(60): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC88A_chr2_55282842_55424856	55297340	T T	TTATATAT others(44): Show TTATATATTATATATAAATATATATAATATATATATATATAAATATATAT AA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	60	0.0167	51	c.482 others(68): Show c.4826-818_4826-817insTTATATATATTTATATATATATATATTA TATATATTTATATATAATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55297340	T T	TTATATAT others(44): Show TTATATATTATATATAAATATATATAATATATATTATATATAATATATAT AA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18612.hp2 NA18969.hp2 HG03669.hp1 NA18612.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0005g0228 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0005g0228	3	62	0.0484	51	c.482 others(68): Show c.4826-818_4826-817insTTATATATATTATATATAATATATATTA TATATATTTATATATAATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(44): Show CATATATATATATATATGATGTGTATACATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA21309.hp1 HG02055.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0122 a0001c0001t0008g0123 a0001c0001t0004g0122 a0001c0001t0008g0123	2	288	0.0069	51	c.-43 others(70): Show c.-431+1248_-431+1249insATATATATATATATATATATATATGT ATACACATCATATATATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCND2_chr12_4268762_4310353	4309200	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	458	0.0022	51	c.91 others(62): Show c.9191_*9192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTCTTTTT	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding		3848		chr12	TogoVar
CD101_chr1_116996760_117041552	117029240	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0044 a0002c0004t0001g0044	1	424	0.0024	51	c.282 others(70): Show c.2824+3347_2824+3348insGGAAAGAAAGAAAAGAAAGAAAAGAA AGAAAGAAAGAAAGGAAAGAAAGAA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD247_chr1_167425640_167523529	167483013	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01361.hp2 others(5): Show HG00280.hp2 HG00735.hp1 HG01361.hp2 HG02922.hp1 HG03486.hp1 NA18966.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0045 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0002g0220 a0001c0001t0002g0282	8	330	0.0242	51	c.58+ others(68): Show c.58+35394_58+35395insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD6_chr11_60966680_61025377	60982123	C C	CGGTCTGT others(44): Show CGGTCTGTGCATGGGGCTGGGGACAGCAGATGCCCGAGTTGCGGGGGGGG GG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	8	0.1250	51	c.49+ others(68): Show c.49+10232_49+10233insAGCAGATGCCCGAGTTGCGGGGGGGGGG GGTCTGTGCATGGGGCTGGGGAC	CD6	ENSG00000013725.14	transcript	ENST00000313421.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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