Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP2_chr7_146111801_148425998	147575137	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02886.hp2 others(2): Show HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 others(1): Show a0001c0002 a0001c0005 a0001c0008 a0001c0012	a0001c0002t0001 a0001c0005t0008 a0001c0005t0022 others(2): Show a0001c0002t0001 a0001c0005t0008 a0001c0005t0022 a0001c0008t0001 a0001c0012t0004	a0001c0002t0001g0008 a0001c0005t0008g0005 a0001c0005t0022g0032 others(2): Show a0001c0002t0001g0008 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0012t0004g0026	5	40	0.1250	-47	c.189 others(68): Show c.1897+12896_1897+12942delATTCCCTAGCTTTAGGAGTATGCA TATGTGTATGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147575192	GTGTGTGT others(40): Show GTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02976.hp2 HG00735.hp1 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0003t0020 a0001c0006t0014 a0001c0001t0002 a0001c0003t0020 a0001c0006t0014	a0001c0001t0002g0006 a0001c0003t0020g0017 a0001c0006t0014g0033 a0001c0001t0002g0006 a0001c0003t0020g0017 a0001c0006t0014g0033	3	40	0.0750	-47	c.189 others(68): Show c.1897+12947_1897+12993delATTCCCTAGCTTTAGGAGTATGCA TATGTGTGTGTTTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373224	GAATATAT others(40): Show GAATATATTCCACATAAATAGGTGAATATATTCCACATATATATGTGA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	272	0.0037	-47	c.390 others(66): Show c.390+17733_390+17779delGGTGAATATATTCCACATATATATGT GAAATATATTCCACATAAATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL23A1_chr5_178232618_178595393	178559885	AGAAGTCT others(40): Show AGAAGTCTGAGACACATCACCCAAAAGTCACCTTTCCCTGCACGTCGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp1 others(1): Show HG01070.hp1 HG01074.hp1 HG01167.hp1 HG01346.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0004c0006 a0003c0007 a0004c0006	a0003c0007t0001 a0004c0006t0003 a0003c0007t0001 a0004c0006t0003	a0003c0007t0001g0030 a0003c0007t0001g0097 a0003c0007t0001g0098 others(1): Show a0003c0007t0001g0030 a0003c0007t0001g0097 a0003c0007t0001g0098 a0004c0006t0003g0130	4	236	0.0169	-47	c.361 others(62): Show c.361+750_361+796delCCGACGTGCAGGGAAAGGTGACTTTTGGGT GATGTGTCTCAGACTTC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(40): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp1 HG03492.hp1 others(4): Show HG00280.hp1 HG01952.hp1 HG03492.hp1 HG04199.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 others(1): Show a0001c0002 a0001c0005 a0002c0004 a0002c0007	a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 others(3): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0005t0002 a0002c0004t0001 a0002c0007t0004	a0001c0002t0003g0047 a0001c0002t0006g0040 a0001c0002t0016g0029 others(4): Show a0001c0002t0003g0047 a0001c0002t0006g0040 a0001c0002t0016g0029 a0001c0005t0002g0119 a0002c0004t0001g0072 a0002c0007t0004g0007 a0002c0007t0004g0019	7	121	0.0579	-47	c.385 others(66): Show c.385+41926_385+41972delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL5A1_chr9_134636803_134849843	134653988	GGCTGGTG others(40): Show GGCTGGTGTGTGTAGGGCTGGAGGTGTGTAGGGCTGGAGTTGTGTAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	270	0.0037	-47	c.109 others(66): Show c.109+11720_109+11766delTAGGGCTGGAGTTGTGTAGAGCTGGT GTGTGTAGGGCTGGAGGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760359	ACATACAC others(40): Show ACATACACACACACCACACATGCATACACACCCCCACACCCCCACACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(14): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0031 a0001c0044 a0011c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0006t0019 a0001c0007t0004 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0031t0006 a0001c0044t0057 a0011c0043t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 others(14): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 a0001c0003t0008g0186 a0001c0003t0015g0189 a0001c0004t0002g0046 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0031t0006g0048 a0001c0044t0057g0042 a0011c0043t0043g0037	17	210	0.0810	-47	c.193 others(66): Show c.1936-1555_1936-1509delCACCACACATGCATACACACCCCCAC ACCCCCACACTCATACACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760697	ACACACAC others(40): Show ACACACACACCCACACACCCATACACACATGCACACACACCACACATG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0268 a0001c0015t0001g0268	1	270	0.0037	-47	c.193 others(66): Show c.1936-1216_1936-1170delACACACCCATACACACATGCACACAC ACCACACATGCACACACACCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45977812	GAGGGAGG others(40): Show GAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG02451.hp2 others(6): Show HG01123.hp1 HG01255.hp2 HG02451.hp2 HG02630.hp1 HG02895.hp2 HG03492.hp2 NA19005.hp1 NA19070.hp2 NA19079.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0004c0005t0001	a0002c0002t0001g0041 a0002c0002t0008g0117 a0002c0002t0009g0084 others(6): Show a0002c0002t0001g0041 a0002c0002t0008g0117 a0002c0002t0009g0084 a0002c0002t0010g0039 a0004c0005t0001g0040 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058	9	121	0.0744	-47	c.-40 others(58): Show c.-4038_-3992delAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGG AGGGAGGGGGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3957		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988073	GTCCAGAT others(40): Show GTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	105	0.0095	-47	c.804 others(62): Show c.804+420_804+466delTCCAGATGGAGGGGACGTCGGGGCTCCAGA TGGAGGGGACGGCGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34			chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133639	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(144): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(16): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0029 a0001c0030 a0002c0003 a0003c0004 a0003c0007 a0005c0037 a0005c0038 a0006c0015	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(18): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0001c0030t0001 a0002c0003t0003 a0003c0004t0001 a0003c0007t0001 a0005c0037t0001 a0005c0038t0001 a0006c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(132): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0333 a0001c0005t0001g0002 a0001c0005t0001g0038 a0001c0005t0001g0041 a0001c0005t0001g0102 a0001c0005t0001g0106 a0001c0005t0001g0111 a0001c0005t0001g0114 a0001c0005t0001g0120 a0001c0005t0001g0131 a0001c0005t0001g0152 a0001c0005t0001g0154 a0001c0005t0001g0162 a0001c0005t0001g0168 a0001c0005t0001g0187 a0001c0005t0001g0261 a0001c0005t0002g0174 a0001c0005t0003g0248 a0001c0006t0005g0233 a0001c0009t0001g0108 a0001c0009t0001g0113 a0001c0009t0001g0117 a0001c0009t0001g0122 a0001c0009t0001g0123 a0001c0009t0001g0145 a0001c0010t0001g0169 a0001c0010t0001g0188 a0001c0011t0001g0331 a0001c0011t0001g0332 a0001c0012t0001g0237 a0001c0012t0001g0254 a0001c0020t0001g0178 a0001c0021t0001g0177 a0001c0023t0001g0036 a0001c0024t0001g0012 a0001c0029t0001g0140 a0001c0030t0001g0157 a0002c0003t0003g0072 a0002c0003t0003g0225 a0003c0004t0001g0309 a0003c0007t0001g0201 a0005c0037t0001g0092 a0005c0038t0001g0093 a0006c0015t0001g0086 a0006c0015t0001g0159	147	369	0.3984	-47	c.41 others(58): Show c.4149_*4195delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3839		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133639	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(138): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0013 a0014	a0001c0001 a0001c0004 a0001c0006 others(24): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0048 a0001c0049 a0002c0003 a0003c0010 a0003c0016 a0009c0058 a0009c0059 a0013c0052 a0014c0053	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0022t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0048t0001 a0001c0049t0001 a0002c0003t0001 a0003c0010t0001 a0003c0016t0001 a0009c0058t0001 a0009c0059t0001 a0013c0052t0001 a0014c0053t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0006g0133 a0001c0001t0011g0332 a0001c0004t0001g0008 a0001c0004t0001g0038 a0001c0004t0001g0042 a0001c0004t0001g0103 a0001c0004t0001g0105 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0119 a0001c0004t0001g0132 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0161 a0001c0004t0001g0167 a0001c0004t0001g0173 a0001c0004t0001g0185 a0001c0004t0001g0247 a0001c0004t0001g0260 a0001c0006t0001g0002 a0001c0006t0001g0150 a0001c0006t0001g0164 a0001c0006t0001g0166 a0001c0006t0001g0179 a0001c0006t0001g0187 a0001c0006t0001g0241 a0001c0006t0001g0302 a0001c0006t0001g0303 a0001c0006t0001g0305 a0001c0006t0010g0163 a0001c0011t0001g0107 a0001c0011t0001g0112 a0001c0011t0001g0116 a0001c0011t0001g0121 a0001c0011t0001g0122 a0001c0011t0001g0176 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0014 a0001c0018t0001g0168 a0001c0018t0001g0186 a0001c0019t0001g0330 a0001c0019t0001g0331 a0001c0020t0001g0002 a0001c0020t0001g0118 a0001c0021t0006g0144 a0001c0021t0006g0175 a0001c0022t0001g0235 a0001c0022t0001g0253 a0001c0025t0001g0231 a0001c0034t0001g0177 a0001c0036t0001g0036 a0001c0037t0001g0014 a0001c0038t0001g0130 a0001c0039t0001g0280 a0001c0040t0001g0010 a0001c0041t0001g0128 a0001c0048t0001g0143 a0001c0049t0001g0157 a0002c0003t0001g0073 a0002c0003t0001g0223 a0003c0010t0001g0309 a0003c0016t0001g0199 a0009c0058t0001g0093 a0009c0059t0001g0094 a0013c0052t0001g0159 a0014c0053t0001g0087	141	361	0.3906	-47	c.10 others(58): Show c.1088_*1134delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		792		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3590715	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01069.hp1 others(14): Show HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01975.hp1 HG02148.hp1 HG02300.hp1 HG02698.hp2 HG03540.hp1 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0185 a0001c0001t0001g0186 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0308 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0345 a0002c0003t0001g0330 a0002c0004t0001g0313	17	376	0.0452	-47	c.-44 others(58): Show c.-4479_-4433delCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCA GGCGGGGGGCTGA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4396		chr2	TogoVar
CORO1C_chr12_108640109_108736518	108656294	CTCAGCCC others(40): Show CTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(188): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0003 a0003c0008 others(2): Show a0001c0001 a0002c0003 a0003c0008 a0005c0007 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0002c0003t0001 a0003c0008t0001 a0005c0007t0001 a0006c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0195 a0001c0001t0005g0184 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0006g0130 a0001c0001t0006g0148 a0001c0001t0006g0162 a0001c0001t0006g0182 a0001c0001t0010g0235 a0001c0001t0011g0055 a0002c0003t0001g0002 a0003c0008t0001g0010 a0005c0007t0001g0047 a0006c0005t0001g0067	191	324	0.5895	-47	c.750 others(63): Show c.750+963_750+1009delCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGA	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10			chr12	TogoVar
CORO1C_chr12_108640109_108736518	108656304	GCCCGGCC others(40): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0321 a0001c0001t0021g0321	1	324	0.0031	-47	c.750 others(62): Show c.750+953_750+999delTGGGGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGG	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10			chr12	TogoVar
COX19_chr7_959852_980549	960417	AGATGGCG others(40): Show AGATGGCGGGTGCTGTGGGAACTGACAGGAGCCAGGCACAGAGGGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(90): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19059.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 others(10): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0033 a0001c0001t0041 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0076	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0013 others(23): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0138 a0001c0001t0014g0018 a0001c0001t0014g0113 a0001c0001t0027g0136 a0001c0001t0033g0045 a0001c0001t0041g0051 a0001c0001t0052g0098 a0001c0001t0054g0106 a0001c0001t0055g0107 a0001c0001t0057g0108 a0001c0001t0063g0109 a0001c0001t0068g0110 a0001c0001t0069g0111 a0001c0001t0076g0112	93	430	0.2163	-47	c.89 others(58): Show c.8914_*8960delCGACCCTCTGTGCCTGGCTCCTGTCAGTTCCCAC AGCACCCGCCATC	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		4434		chr7	TogoVar
CPED1_chr7_120983711_121302442	121047670	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01192.hp2 others(2): Show HG01070.hp1 HG01074.hp2 HG01192.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	5	137	0.0365	-47	c.540 others(62): Show c.540+680_540+726delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRADD_chr12_93672375_93855756	93851215	TCAGCAAT others(40): Show TCAGCAATGCTGTGGGGCAGTGGGCAAGGTGGTTCACCTCCTTCTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	246	0.0041	-47	c.94 others(56): Show c.945_*991delCAGCAATGCTGTGGGGCAGTGGGCAAGGTGGTTCAC CTCCTTCTGTA	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding		460		chr12	TogoVar
CRISP2_chr6_49687359_49718543	49701616	ATATATAC others(40): Show ATATATACATTATATATGTATACATTATATATGTATACATTATATATG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	389	0.0026	-47	c.67- others(60): Show c.67-879_67-833delCATATATAATGTATACATATATAATGTATACA TATATAATGTATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1200649	ATGTGTGG others(40): Show ATGTGTGGGTATATATATGTGTATATAAGCTGTGTGTGTGTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0002c0004 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0003c0014 a0003c0021 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0011t0003 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0002 a0002c0009t0001 a0002c0010t0001 a0002c0013t0002 a0002c0015t0001 a0003c0014t0001 a0003c0021t0001 a0004c0012t0004	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0057 others(92): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0002g0070 a0001c0002t0001g0125 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0139 a0001c0002t0005g0026 a0001c0002t0005g0128 a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0001g0038 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0063 a0001c0003t0001g0094 a0001c0003t0001g0118 a0001c0003t0001g0124 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0003g0046 a0001c0003t0003g0082 a0001c0003t0003g0130 a0001c0007t0001g0016 a0001c0007t0001g0048 a0001c0007t0001g0083 a0001c0007t0001g0084 a0001c0007t0001g0108 a0001c0007t0001g0110 a0001c0007t0001g0114 a0001c0007t0001g0137 a0001c0008t0001g0148 a0001c0008t0001g0149 a0001c0008t0001g0165 a0001c0011t0001g0159 a0001c0011t0001g0166 a0001c0011t0003g0164 a0002c0004t0001g0010 a0002c0004t0001g0022 a0002c0004t0001g0025 a0002c0004t0001g0028 a0002c0004t0001g0071 a0002c0004t0001g0117 a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0005t0001g0027 a0002c0005t0001g0060 a0002c0005t0001g0065 a0002c0005t0001g0072 a0002c0005t0001g0087 a0002c0005t0001g0120 a0002c0005t0001g0132 a0002c0005t0002g0006 a0002c0006t0001g0039 a0002c0006t0002g0102 a0002c0006t0002g0112 a0002c0009t0001g0047 a0002c0009t0001g0090 a0002c0009t0001g0101 a0002c0009t0001g0134 a0002c0010t0001g0163 a0002c0013t0002g0155 a0002c0015t0001g0035 a0003c0014t0001g0012 a0003c0014t0001g0098 a0003c0021t0001g0066 a0004c0012t0004g0096	95	165	0.5758	-47	c.483 others(64): Show c.483+1706_483+1752delCATATACACACACACACAGCTTATATAC ACATATATATACCCACACA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	4/7			chrX	TogoVar
CRYBB3_chr22_25194858_25212359	25207795	CCATTCAT others(40): Show CCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(99): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03490.hp2 HG03579.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0003g0006 a0002c0002t0001g0095 a0003c0003t0001g0027 a0003c0003t0001g0037 a0006c0006t0001g0025	102	452	0.2257	-47	c.58 others(56): Show c.584_*630delCATTCATTCATCCATCCAACTACCTACCACCCATTC ATCCATCCATG	CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding		437		chr22	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666995	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0042 a0002c0012t0042	a0002c0012t0042g0091 a0002c0012t0042g0091	1	232	0.0043	-47	c.-39 others(68): Show c.-391-65177_-391-65131delTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667003	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0081 a0002c0003t0046g0081	1	226	0.0044	-47	c.-39 others(68): Show c.-391-65185_-391-65139delTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSK_chr15_74777080_74808197	74782719	AGGTGAGT others(40): Show AGGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGGAGGGAAGAGGGTG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	392	0.0026	-47	c.-66 others(59): Show c.-66+1_-66+47delGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGG AGGGAAGAGGGTGG	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	4920887	AAAAGAAA others(40): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0024 a0024	a0024c0052 a0024c0052	a0024c0052t0049 a0024c0052t0049	a0024c0052t0049g0098 a0024c0052t0049g0098	1	103	0.0097	-47	c.85+ others(64): Show c.85+73398_85+73444delCTCTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542645	TATATATA others(40): Show TATATATATATATATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02004.hp1 HG01993.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0059 a0001c0001t0001g0076	2	386	0.0052	-47	c.230 others(64): Show c.230+7383_230+7429delTATATATATATATATATATACATATATA TATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542648	ATATATAT others(40): Show ATATATATATATATATATATATATGTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	380	0.0026	-47	c.230 others(64): Show c.230+7380_230+7426delAAATATATATATATATATATATACATAT ATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277779	TAATATAT others(40): Show TAATATATTAATATTGATATATTTAATATATTAATATTGATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp1 HG02280.hp2 others(9): Show HG01109.hp2 HG01169.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03579.hp1 NA18957.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0002t0001	a0001c0001t0009g0005 a0001c0001t0010g0115 a0001c0001t0010g0120 others(9): Show a0001c0001t0009g0005 a0001c0001t0010g0115 a0001c0001t0010g0120 a0001c0001t0010g0122 a0001c0001t0011g0106 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0017g0135 a0001c0001t0018g0136 a0001c0001t0019g0123 a0001c0001t0023g0121 a0001c0002t0001g0055	12	174	0.0690	-47	c.182 others(66): Show c.182-18585_182-18539delTAAATATATCAATATTAATATATTAA ATATATCAATATTAATATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSRNP3_chr2_165464698_165694407	165666956	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	244	0.0041	-47	c.408 others(64): Show c.408+8985_408+9031delGGAAGGAAGGAAGGAAAGAGAGAGAGGA AGAAAGAAAGAGAGAGAGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST9L_chr20_23559732_23573484	23561021	TTCTTTCC others(40): Show TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	389	0.0026	-47	c.38 others(58): Show c.3880_*3926delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3710		chr20	TogoVar
CTAGE8_chr7_144261674_144274288	144265127	CACACACA others(40): Show CACACACACACTCTCTCTCTCTCTCCTGGTTTTGGTATCACTGTAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0039 a0039	a0039c0029 a0039c0029	a0039c0029t0002 a0039c0029t0002	a0039c0029t0002g0000 a0039c0029t0002g0000	1	152	0.0066	-47	c.17 others(58): Show c.1743_*1789delTATTACAGTGATACCAAAACCAGGAGAGAGAGAG AGAGTGTGTGTGT	CTAGE8	ENSG00000289604.1	transcript	ENST00000487179.2	protein_coding		1546		chr7	TogoVar
CTDP1_chr18_79674803_79759503	79742143	AGGTGGAG others(40): Show AGGTGGAGGCCTGGGGGCAGCAGAGGAAGCATGAAGCATGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0005 a0005c0015t0005	a0005c0015t0005g0362 a0005c0015t0005g0362	1	367	0.0027	-47	c.274 others(66): Show c.2747+5623_2747+5669delGGTGGAGGCCTGGGGGCAGCAGAGGA AGCATGAAGCATGAGAGAGAG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CTSS_chr1_150725188_150770778	150744136	ATGTACAC others(40): Show ATGTACACATAATATTTATATATTATATGTATATTATGTATACATAAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	340	0.0029	-47	c.896 others(64): Show c.896+3594_896+3640delATTATGTATACATAATATACATATAATA TATAAATATTATGTGTACA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL1_chr7_148693903_148806110	148801521	CCGGGACA others(40): Show CCGGGACACGGCAGAGCCTGCTCGTCCATGCTTCTCCGATTGTGGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	336	0.0060	-47	c.94 others(56): Show c.940_*986delCGGGACACGGCAGAGCCTGCTCGTCCATGCTTCTCC GATTGTGGGCT	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding		412		chr7	TogoVar
CYB5R3_chr22_42612840_42654392	42640334	GACCCTGC others(40): Show GACCCTGCGTGGTTCACTTATTTATTTATTTATTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	358	0.0028	-47	c.22- others(62): Show c.22-3535_22-3489delTAAATAAATAAATAAATAAATAAATAAATA AGTGAACCACGCAGGGT	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8			chr22	TogoVar
CYP7B1_chr8_64585851_64803737	64685859	CATCCGGG others(40): Show CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	256	0.0039	-47	c.123 others(66): Show c.123-61367_123-61321delCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYSLTR2_chr13_48648929_48716226	48709744	AAGAGATT others(40): Show AAGAGATTAAACCAAGATAGAGGAAAACACAGTAGCTGGGAAACAAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0117 a0001c0001t0016g0117	1	316	0.0032	-47	c.18 others(58): Show c.1888_*1934delGAGATTAAACCAAGATAGAGGAAAACACAGTAGC TGGGAAACAAGGA	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	5/5	1888	INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH3_chr7_6156779_6277624	6259743	AATATATA others(40): Show AATATATATATATATTATATATATATATATTATATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0024 a0001c0001t0049g0024	1	334	0.0030	-47	c.34+ others(64): Show c.34+12684_34+12730delATATATTATATATATATAATATATATAT ATATAATATATATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241766759	GGGAGATG others(40): Show GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	410	0.0024	-47	c.130 others(64): Show c.1307-950_1307-904delGGAGATGGGAGCCCCGGGCTGAGGGAGT AGGAAGAGGGGGGAGAACT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
DAPK1_chr9_87492867_87713634	87606680	GTCCCTCC others(40): Show GTCCCTCCCTCTCTCCTTCCTTCCTTCCTTCCTCCCTCTCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0019 a0002c0040 a0001c0019 a0002c0040	a0001c0019t0001 a0002c0040t0001 a0001c0019t0001 a0002c0040t0001	a0001c0019t0001g0195 a0002c0040t0001g0029 a0001c0019t0001g0195 a0002c0040t0001g0029	2	234	0.0085	-47	c.284 others(64): Show c.284+1532_284+1578delCTTCCTCCCTCTCTCTCTCCCTCCCTCC CTCTCTCCTTCCTTCCTTC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPP1_chr4_99811827_99875190	99863495	ATGAGAGA others(40): Show ATGAGAGAAAAATATACCTCTCTTCCATGTGTTAAAATCCATCTTCAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	364	0.0027	-47	c.601 others(62): Show c.601-274_601-228delTGAGAGAAAAATATACCTCTCTTCCATGTG TTAAAATCCATCTTCAT	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	6/8			chr4	TogoVar
DCAF6_chr1_167931683_168080836	168008833	GCCCTGCC others(40): Show GCCCTGCCCTGCCCTCCCCCGCCCCACCCCGCCTCCACCCTGCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	264	0.0038	-47	c.137 others(66): Show c.1378+4044_1378+4090delTGCCCTGCCCTCCCCCGCCCCACCCC GCCTCCACCCTGCCCCCACCC	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCBLD2_chr3_98790941_98906695	98850818	CAACTGCA others(40): Show CAACTGCATTTCCATATATGCTAGTGCAATCTGAAATGAAATTTTTAA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0030 a0001c0002t0012g0030	1	328	0.0030	-47	c.434 others(64): Show c.434-1267_434-1221delTTAAAAATTTCATTTCAGATTGCACTAG CATATATGGAAATGCAGTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCD_chr12_54639589_54653365	54651490	AGTAGCTG others(40): Show AGTAGCTGGGACTACAGGCACCCACCACCACCCCTGGCTAATTTTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	426	0.0023	-47	c.-32 others(58): Show c.-3234_-3188delACAAAAATTAGCCAGGGGTGGTGGTGGGTGCCTG TAGTCCCAGCTAC	DCD	ENSG00000161634.12	transcript	ENST00000293371.11	protein_coding		3126		chr12	TogoVar
DCLK2_chr4_150073445_150262438	150239917	GAGAAAGG others(40): Show GAGAAAGGTCTGTTTTGTTGCTATTGCTGCTTGTGTATACAGTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0109 a0002c0006t0006g0109	1	32	0.0313	-47	c.170 others(64): Show c.1700+132_1700+178delTGGTAAGAAAGGTCTGTTTTGTTGCTAT TGCTGCTTGTGTATACAGT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDO_chr6_110386784_110420575	110419583	TTGCTTAA others(40): Show TTGCTTAAGATGTTCTTCAGATCCTCAATTTCAGCAGAATGGCTGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	420	0.0024	-47	c.-41 others(58): Show c.-4168_-4122delTGTCAGCCATTCTGCTGAAATTGAGGATCTGAAG AACATCTTAAGCA	DDO	ENSG00000203797.12	transcript	ENST00000368924.9	protein_coding		4009		chr6	TogoVar
DDX51_chr12_132131594_132149319	132149121	TGCCGCCG others(40): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0012 a0004c0012t0012	a0004c0012t0012g0018 a0004c0012t0012g0018	1	330	0.0030	-47	c.-48 others(58): Show c.-4872_-4826delGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4803		chr12	TogoVar
DEFB124_chr20_31460471_31480127	31471317	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02630.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02896.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0125 a0001c0001t0002g0126 others(6): Show a0001c0001t0002g0038 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0140	10	360	0.0278	-47	c.58+ others(62): Show c.58+1592_58+1638delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471356	GGGGGCTG others(40): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	360	0.0028	-47	c.58+ others(62): Show c.58+1553_58+1599delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DGCR2_chr22_19031286_19127412	19084668	TGGGGGTC others(40): Show TGGGGGTCAGCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(50): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18982.hp1 NA18985.hp2 NA18995.hp1 NA19060.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 others(2): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 a0002c0002t0025 a0002c0002t0041	a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(47): Show a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0190 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0183 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0018g0140 a0002c0002t0018g0151 a0002c0002t0018g0159 a0002c0002t0018g0181 a0002c0002t0025g0146 a0002c0002t0025g0153 a0002c0002t0041g0170	53	342	0.1550	-47	c.202 others(64): Show c.202+4653_202+4699delCACCTCCCTCCCGGACGGGGCAGCTGGC CGGGCGGGGGCTGACCCCC	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar

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