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
CA6_chr1_8940868_8980092	8977700	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	107	0.0093	47	c.29 others(58): Show c.2996_*2997insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(40): Show GATATATATATATATATATATGCTAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0282	1	163	0.0061	47	c.565 others(64): Show c.565-1863_565-1862insATATATATATATATATATATATCTAGCA TATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABIN1_chr22_24006304_24183628	24042877	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0121 a0006c0013t0001g0121	1	255	0.0039	47	c.346 others(60): Show c.346-27_346-26insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36			chr22	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(40): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0002 a0005c0024t0002	a0005c0024t0002g0118 a0005c0024t0002g0118	1	203	0.0049	47	c.539 others(66): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CADPS2_chr7_122313411_122891460	122363402	G G	GTTGCTGA others(40): Show GTTGCTGAGGGACAAAGCAAGATAGAGGCAGGAAGCCTGTTGATGAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	124	0.0081	47	c.338 others(66): Show c.3388-2436_3388-2390dupATTCATCAACAGGCTTCCTGCCTCTA TCTTGCTTTGTCCCTCAGCAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	25/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0318 a0003c0002t0001g0318	1	33	0.0303	47	c.912 others(64): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	14	0.0714	47	c.244 others(64): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATATATATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(40): Show TTATATATTTTATATATTATATATATTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0121 a0001c0001t0071g0121	1	71	0.0141	47	c.92+ others(64): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12545227	C C	CTCAAAAG others(40): Show CTCAAAAGAGGAGGAAATAAGAGGCCAAAGTGGGCGGATCACTTGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(103): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0110 a0001c0001t0112 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0045 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0057 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0073 a0001c0002t0107 a0001c0003t0007 a0001c0003t0022	a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 others(180): Show a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0171 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0003g0195 a0001c0001t0004g0016 a0001c0001t0004g0134 a0001c0001t0005g0014 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0005g0204 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0152 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0009g0213 a0001c0001t0011g0009 a0001c0001t0011g0017 a0001c0001t0012g0132 a0001c0001t0012g0173 a0001c0001t0012g0185 a0001c0001t0013g0107 a0001c0001t0013g0155 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0013 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0031 a0001c0001t0020g0142 a0001c0001t0020g0158 a0001c0001t0022g0070 a0001c0001t0026g0143 a0001c0001t0028g0099 a0001c0001t0028g0203 a0001c0001t0029g0136 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0031g0169 a0001c0001t0032g0042 a0001c0001t0033g0138 a0001c0001t0033g0186 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0035g0106 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0049 a0001c0001t0038g0174 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0047g0066 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0058g0093 a0001c0001t0059g0192 a0001c0001t0062g0144 a0001c0001t0064g0105 a0001c0001t0069g0044 a0001c0001t0070g0123 a0001c0001t0071g0121 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0076g0127 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0083g0061 a0001c0001t0085g0110 a0001c0001t0086g0181 a0001c0001t0087g0124 a0001c0001t0090g0115 a0001c0001t0091g0030 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0094g0094 a0001c0001t0095g0149 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0098g0037 a0001c0001t0099g0043 a0001c0001t0100g0135 a0001c0001t0101g0156 a0001c0001t0102g0010 a0001c0001t0103g0162 a0001c0001t0104g0089 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0108g0020 a0001c0001t0110g0150 a0001c0001t0112g0038 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0170 a0001c0002t0004g0208 a0001c0002t0008g0108 a0001c0002t0008g0113 a0001c0002t0008g0153 a0001c0002t0008g0205 a0001c0002t0010g0007 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0016g0180 a0001c0002t0021g0023 a0001c0002t0021g0048 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0128 a0001c0002t0024g0131 a0001c0002t0025g0146 a0001c0002t0026g0165 a0001c0002t0045g0118 a0001c0002t0051g0178 a0001c0002t0052g0214 a0001c0002t0053g0002 a0001c0002t0054g0019 a0001c0002t0055g0207 a0001c0002t0057g0006 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053 a0001c0002t0068g0021 a0001c0002t0073g0058 a0001c0002t0107g0117 a0001c0003t0007g0063 a0001c0003t0022g0024	183	214	0.8551	47	c.93- others(62): Show c.93-7995_93-7994insAAAGAGGAGGAAATAAGAGGCCAAAGTGGG CGGATCACTTGAGGTCA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12693957	T T	TATATATA others(40): Show TATATATAAAATATATAATATATATTATATATACATATAATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp1 HG02886.hp1 others(1): Show HG01071.hp2 HG01891.hp1 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0028 a0001c0001t0104 others(1): Show a0001c0001t0020 a0001c0001t0028 a0001c0001t0104 a0001c0002t0107	a0001c0001t0020g0142 a0001c0001t0028g0203 a0001c0001t0104g0089 others(1): Show a0001c0001t0020g0142 a0001c0001t0028g0203 a0001c0001t0104g0089 a0001c0002t0107g0117	4	214	0.0187	47	c.299 others(66): Show c.299+27155_299+27201dupAAATATATAATATATATTATATATAC ATATAATATATATAATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1G_chr1_209578714_209618939	209584565	C C	CCATGGCC others(40): Show CCATGGCCCCTTCTCTCCACGTAACTTTGACGCACAAACATTAACCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0211 a0002c0003t0002g0211	1	444	0.0023	47	c.-30 others(62): Show c.-30+794_-30+840dupCATGGCCCCTTCTCTCCACGTAACTTTGAC GCACAAACATTAACCCT	CAMK1G	ENSG00000008118.10	transcript	ENST00000361322.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0070 a0001c0001t0013g0070	1	106	0.0094	47	c.721 others(62): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44182252	C C	CCACACTC others(40): Show CCACACTCACACACACACACACTCACATACAGACACAACCACACCACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	252	0.0040	47	c.193 others(64): Show c.1939-684_1939-683insTCACACACACACACACTCACATACAGAC ACAACCACACCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182264	A A	ACACACAC others(40): Show ACACACACACAGACACAACCACACCACACACACACACACATACACACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	47	c.193 others(64): Show c.1939-673_1939-672insCACACAGACACAACCACACCACACACAC ACACACATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN5_chr11_77061971_77131155	77063282	G G	GACTCAGC others(40): Show GACTCAGCAAGGCTCTTAGGAGTCCTCCAAAGGTCTGTTGGGGTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	380	0.0026	47	c.-38 others(58): Show c.-3848_-3847insACTCAGCAAGGCTCTTAGGAGTCCTCCAAAGGTC TGTTGGGGTTAAA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding		3688		chr11	TogoVar
CARD8_chr19_48203086_48260912	48238684	T T	TATCCATC others(40): Show TATCCATCCTTAGACATGCCCATCCATAGAGATGCCATCCTTAGAGAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0295 a0001c0002t0056g0295	1	360	0.0028	47	c.60- others(60): Show c.60-199_60-153dupGTCTCTAAGGATGGCATCTCTATGGATGGGCA TGTCTAAGGATGGAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	4/13			chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCCTCTCC others(40): Show TCCTCTCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(4): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG01192.hp1 HG02723.hp1 NA18943.hp2 NA18983.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0005 others(2): Show a0001c0001 a0001c0006 a0002c0005 a0002c0013 a0003c0023	a0001c0001t0001 a0001c0006t0002 a0002c0005t0013 others(2): Show a0001c0001t0001 a0001c0006t0002 a0002c0005t0013 a0002c0013t0016 a0003c0023t0002	a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0006t0002g0100 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0006t0002g0100 a0001c0006t0002g0121 a0002c0005t0013g0113 a0002c0013t0016g0169 a0003c0023t0002g0077	7	147	0.0476	47	c.614 others(62): Show c.614+271_614+272insTCTCCTCTCTTCTCTTCTCCTCTCCCCTCT CCCCTCTCCCCTCTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0013 a0004c0011t0013	a0004c0011t0013g0078 a0004c0011t0013g0078	1	164	0.0061	47	c.615 others(64): Show c.615-6604_615-6603insCTTTCTTTCCTTCTTTCTTTCTTTCCTT TCTTTCTTTCTTTCTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASP6_chr4_109683628_109708445	109684035	G G	GATGTGCA others(40): Show GATGTGCATTTGTTCAAGAGTTCCTCTTTTCTTTTTTTTTTTTTTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	47	c.52 others(58): Show c.5248_*5294dupTCAAAAAAAAAAAAAAAGAAAAGAGGAACTCTTG AACAAATGCACAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		4592		chr4	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(40): Show AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	265	0.0038	47	c.-24 others(66): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(40): Show AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02148.hp2 others(1): Show HG01257.hp2 HG01258.hp1 HG02148.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0009 a0001c0001t0003g0294 a0002c0002t0002g0301 a0001c0001t0003g0009 a0001c0001t0003g0294 a0002c0002t0002g0301	4	268	0.0149	47	c.-24 others(66): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0033 a0033	a0033c0024 a0033c0024	a0033c0024t0001 a0033c0024t0001	a0033c0024t0001g0225 a0033c0024t0001g0225	1	46	0.0217	47	c.142 others(66): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATATATATATATATTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	46	0.0217	47	c.142 others(66): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATGTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0167 a0001c0016t0001g0167	1	46	0.0217	47	c.142 others(66): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATGTATTATTATTATTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAVIN4_chr9_100573079_100593389	100591704	T T	TGGCTGGA others(40): Show TGGCTGGAATGGGGCAGACCTCTAGTGGGGGAGCTTCTGGAGTATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	380	0.0026	47	c.52 others(58): Show c.5253_*5254insGGCTGGAATGGGGCAGACCTCTAGTGGGGGAGCT TCTGGAGTATGGG	CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding		3316		chr9	TogoVar
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTCTG others(40): Show CCTCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0026 a0001c0001t0017g0026	1	254	0.0039	47	c.151 others(64): Show c.151+1533_151+1534insAGGGTCAGGGTGGACCTCTGACATGGCT GGAGGTCAGGAGCAGAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	292	0.0034	47	c.346 others(64): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	66	0.0152	47	c.25+ others(64): Show c.25+23323_25+23324insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC157_chr22_30352007_30383673	30359307	C C	CCAAGACA others(40): Show CCAAGACAACAGGAGTGTAGGAGGTGTGGGCATGTGTGTTGTGAGTAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0173 a0002c0003t0004g0173	1	438	0.0023	47	c.-16 others(66): Show c.-166+2196_-166+2197insGGTGTGGGCATGTGTGTTGTGAGTAT CAAGACAACAGGAGTGTAGGA	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC158_chr4_76308039_76426141	76378043	C C	CATCTATA others(40): Show CATCTATAACTGAGATTATACAGTTTCATGTTACTCTCTATGGCTTAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	346	0.0029	47	c.102 others(66): Show c.1029+1200_1029+1246dupCTAAGCCATAGAGAGTAACATGAAAC TGTATAATCTCAGTTATAGAT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	9/24			chr4	TogoVar
CCDC178_chr18_32932406_33445721	33179161	C C	CTATATAT others(40): Show CTATATATATATATAAACTATATATATATAAACTATATATATAAACTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG03098.hp2 others(1): Show HG02258.hp1 HG02897.hp2 HG03098.hp2 HG03540.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0045 others(1): Show a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0045 a0003c0003t0001g0013	4	33	0.1212	47	c.223 others(68): Show c.2238+32734_2238+32735insTAGTTTATATATATAGTTTATATA TATATAGTTTATATATATATATA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(40): Show AAGTATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223	3	200	0.0150	47	c.106 others(64): Show c.106-1129_106-1128insATATATATATATATATATATATATATAT ATATATATATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	204	0.0049	47	c.106 others(64): Show c.106-1145_106-1144insTATATATATATATATATATATATATATA TATATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(40): Show GGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	109	0.0092	47	c.-40 others(56): Show c.-401_-400insGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(40): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	109	0.0092	47	c.-40 others(56): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC77_chr12_396644_447642	415330	A A	AATATTAT others(40): Show AATATTATGTTAATATAATCAACATAATATTATGTTAATATAATCAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	404	0.0025	47	c.271 others(64): Show c.271-3160_271-3114dupTTATGTTAATATAATCAACATAATATTA TGTTAATATAATCAACATA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32828480	G G	GAAGAAGA others(40): Show GAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0003 a0010c0015t0003	a0010c0015t0003g0209 a0010c0015t0003g0209	1	366	0.0027	47	c.326 others(66): Show c.3268+3880_3268+3881insAGAAGAGGAAGAGGAAGAGGAAGAGG AAGAGGAAGAAGAAGAAAAGA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC91_chr12_28185456_28555166	28267849	A A	ATATTACT others(40): Show ATATTACTATATAATTATATATAATTATATATTACTATATAATTATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	192	0.0052	47	c.109 others(64): Show c.109+8409_109+8410insTTACTATATAATTATATATAATTATATA TTACTATATAATTATATTA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28267852	G G	GTAATATA others(40): Show GTAATATATAATTATATATAATTATATAGTAATATATAATTATATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03491.hp2 HG02717.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0174 a0001c0001t0001g0113 a0001c0001t0001g0174	2	59	0.0339	47	c.109 others(64): Show c.109+8437_109+8438insGTAATATATAATTATATTATTAATATAT AATTATATATAATTATATA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(40): Show CATATATATATATATATGATGTGTATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	287	0.0035	47	c.-43 others(66): Show c.-431+1248_-431+1249insATATATATATATATATATATGTATAC ACATCATATATATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCNY_chr10_35331509_35577667	35368682	A A	AGCCCGGC others(40): Show AGCCCGGCCCCAGGCGTCAGGGCAGGCCGCTGTGGGGTGGGCGGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG01891.hp1 others(9): Show HG00738.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 others(9): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0018g0019	12	294	0.0408	47	c.154 others(66): Show c.154+31478_154+31524dupCCGGCCCCAGGCGTCAGGGCAGGCCG CTGTGGGGTGGGCGGTGTGGC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCR9_chr3_45881543_45908174	45882527	A A	AAGTAGAG others(40): Show AAGTAGAGGACTGAAGTAAAATTAATTTTTTCTGTGCCAGAGACTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	422	0.0024	47	c.-41 others(58): Show c.-4157_-4156insAGTAGAGGACTGAAGTAAAATTAATTTTTTCTGT GCCAGAGACTGTG	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding		4015		chr3	TogoVar
CCSER2_chr10_84323589_84523517	84512395	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0048 a0003c0004t0007g0048	1	152	0.0066	47	c.232 others(66): Show c.2326-1053_2326-1052insTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGAGG	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD247_chr1_167425640_167523529	167482993	A A	ATCTTTCT others(40): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	370	0.0027	47	c.58+ others(64): Show c.58+35414_58+35415insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167483013	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp2 HG01517.hp2 others(8): Show HG00140.hp2 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03704.hp2 NA18940.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0002g0205 a0001c0001t0002g0313 a0001c0001t0002g0350 a0001c0001t0004g0160	11	333	0.0330	47	c.58+ others(64): Show c.58+35394_58+35395insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD44_chr11_35134171_35237402	35225126	A A	AAGCACTT others(40): Show AAGCACTTGAACTATGGCTAGTTCAAGCACTTGAACTATGGCTAGTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00733.hp1 others(27): Show HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01261.hp1 HG01952.hp2 HG01993.hp1 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03471.hp2 HG03710.hp2 HG04199.hp1 NA18940.hp1 NA18948.hp1 NA18955.hp1 NA18961.hp1 NA18975.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp2 NA18997.hp1 NA19005.hp2 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0004t0004 a0002c0003t0004	a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0028 others(26): Show a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0085 a0001c0001t0004g0111 a0001c0001t0004g0120 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0157 a0001c0001t0004g0160 a0001c0001t0004g0201 a0001c0001t0004g0217 a0001c0001t0004g0226 a0001c0001t0004g0258 a0001c0001t0004g0265 a0001c0001t0004g0315 a0001c0001t0004g0332 a0001c0001t0004g0348 a0001c0001t0014g0259 a0001c0001t0025g0067 a0001c0004t0004g0019 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0121 a0002c0003t0004g0058	30	376	0.0798	47	c.202 others(66): Show c.2024+3395_2024+3396insGCACTTGAACTATGGCTAGTTCAAGC ACTTGAACTATGGCTAGTTCA	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDC73_chr1_193117031_193259815	193161954	A A	ATATTATA others(40): Show ATATTATATTGTATATATTATATTATATTGTATATATTATATATTATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18972.hp1 HG01109.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0230 a0001c0001t0001g0187 a0001c0001t0001g0230	2	247	0.0081	47	c.972 others(64): Show c.972+9526_972+9527insTTATATTATATTGTATATATTATATATT ATCTATTATATTGTATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193162006	A A	ATATTATA others(40): Show ATATTATATTGTATATATTATATTATATTGTATATATTATATATTATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG02572.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	154	0.0130	47	c.972 others(64): Show c.972+9578_972+9579insTTATATTATATTGTATATATTATATATT ATCTATTATATTGTATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA7_chr2_173349872_173373997	173372025	G G	GATTTTTA others(40): Show GATTTTTAAAATGTAAACATTATATATATATATATATATATATAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02622.hp2 HG02717.hp1 others(7): Show HG00733.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0003t0008 a0001c0004t0008	a0001c0001t0001g0045 a0001c0001t0006g0005 a0001c0001t0008g0013 others(3): Show a0001c0001t0001g0045 a0001c0001t0006g0005 a0001c0001t0008g0013 a0001c0001t0008g0102 a0001c0003t0008g0013 a0001c0004t0008g0013	10	224	0.0446	47	c.43 others(58): Show c.4361_*4362insATTTTTAAAATGTAAACATTATATATATATATAT ATATATATAACTT	CDCA7	ENSG00000144354.15	transcript	ENST00000306721.8	protein_coding		3029		chr2	TogoVar
CDH11_chr16_64938753_65127063	65125979	T T	TTTGATGC others(40): Show TTTGATGCGCCTCTCCTCAGACTCTGAAGATAGCCAGACCCTGCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0007 a0002c0002t0006g0007	1	306	0.0033	47	c.-44 others(58): Show c.-4444_-4398dupCTCAGCAGGGTCTGGCTATCTTCAGAGTCTGAGG AGAGGCGCATCAA	CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding		3917		chr16	TogoVar

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