Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLN8_chr8_1758789_1791570	1763562	CCGCCGCG others(46): Show CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	413	0.0024	-53	c.-44 others(62): Show c.-446_-394delCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCCCGCCCCCCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					226		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763591	GCCCCCCG others(46): Show GCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGC CCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG03516.hp1 others(3): Show HG01074.hp2 HG01496.hp2 HG03516.hp1 NA18988.hp1 NA19010.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0069 a0001c0001t0098 a0001c0001t0001 a0001c0001t0069 a0001c0001t0098	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0086 a0001c0001t0001g0130 a0001c0001t0069g0125 a0001c0001t0098g0003	6	413	0.0145	-53	c.-41 others(62): Show c.-417_-365delCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCG CCCCCCGCCGCGCCCCT		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					197		chr8	TogoVar
CLYBL_chr13_99601690_99897570	99737141	TTGATACA others(46): Show TTGATACAAATCCATCTTTATTTTCTGCAGGGCCAGCTCCTTAGCCCAGC AGCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp1 NA20752.hp1 HG01074.hp1 HG01169.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170	3	218	0.0138	-53	c.63- others(70): Show c.63-35682_63-35630delTGATACAAATCCATCTTTATTTTCTGCA GGGCCAGCTCCTTAGCCCAGCAGCA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8						chr13	TogoVar
CMSS1_chr3_99812862_100186732	99886216	TTTATCAC others(46): Show TTTATCACTATGCTGAGTTCCTGGTGAGAGGGGAATGAGTGTAAAGCAGG GATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(120): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19079.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0102 others(119): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0057 a0001c0001t0006g0071 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0018g0002 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	123	232	0.5302	-53	c.64+ others(70): Show c.64+68228_64+68280delTATCACTATGCTGAGTTCCTGGTGAGAG GGGAATGAGTGTAAAGCAGGGATGT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT4_chr7_135356795_135515102	135495685	AAAAAAAA others(46): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	362	0.0028	-53	c.-93 others(72): Show c.-93+14151_-93+14203delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
COL13A1_chr10_69796906_69964144	69936125	GAAAGAAG others(46): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0295 a0001c0002t0004g0295	1	324	0.0031	-53	c.177 others(70): Show c.1771-628_1771-576delAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAA		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40					INFO_REALIGN_3_PRIME	chr10	TogoVar
COL24A1_chr1_85724233_86161772	86097524	CTCCTCCC others(46): Show CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTTCTCCTCCCCCTCC TCCT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0079 a0003c0007t0002g0079	1	238	0.0042	-53	c.160 others(72): Show c.1600-5257_1600-5205delAGGAGGAGGGGGAGGAGAAGGGAGGA GGAGGGAGGAGGGAGGAGGAGGGAGGA		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59						chr1	TogoVar
COL4A1_chr13_110143963_110312157	110253752	ATATAATT others(46): Show ATATAATTATACGTATGTATGTATTATATATACGTATAATTATACGTATA TATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(84): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18943.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(46): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0019 a0001c0020 a0001c0036 a0001c0052 a0001c0055 a0001c0056 a0001c0057 a0001c0059 a0001c0066 a0001c0072 a0001c0079 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0018 a0002c0023 a0002c0024 a0002c0031 a0002c0085 a0002c0092 a0002c0096 a0003c0008 a0003c0009 a0003c0012 a0003c0014 a0003c0027 a0003c0041 a0003c0046 a0003c0049 a0003c0081 a0003c0099 a0003c0111 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0004c0025 a0004c0035 a0004c0074 a0005c0034 a0008c0054 a0009c0113	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(52): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0016t0003 a0001c0019t0001 a0001c0020t0001 a0001c0020t0005 a0001c0036t0003 a0001c0052t0001 a0001c0055t0001 a0001c0056t0003 a0001c0057t0001 a0001c0059t0001 a0001c0066t0001 a0001c0072t0001 a0001c0079t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0015t0001 a0002c0018t0001 a0002c0023t0006 a0002c0024t0002 a0002c0031t0001 a0002c0085t0001 a0002c0092t0002 a0002c0096t0001 a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0009t0002 a0003c0012t0001 a0003c0012t0002 a0003c0014t0002 a0003c0027t0001 a0003c0041t0002 a0003c0046t0002 a0003c0049t0001 a0003c0081t0009 a0003c0099t0003 a0003c0111t0001 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0004c0025t0001 a0004c0035t0001 a0004c0074t0001 a0005c0034t0001 a0008c0054t0001 a0009c0113t0003	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0069 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0003t0001g0119 a0001c0003t0001g0154 a0001c0003t0001g0162 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0007t0001g0021 a0001c0007t0001g0065 a0001c0010t0001g0058 a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0019t0001g0005 a0001c0020t0001g0090 a0001c0020t0001g0112 a0001c0020t0005g0123 a0001c0036t0003g0135 a0001c0052t0001g0149 a0001c0055t0001g0064 a0001c0056t0003g0126 a0001c0057t0001g0051 a0001c0059t0001g0091 a0001c0066t0001g0151 a0001c0072t0001g0141 a0001c0079t0001g0121 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0002g0269 a0002c0002t0002g0297 a0002c0002t0002g0301 a0002c0002t0002g0329 a0002c0002t0003g0195 a0002c0004t0001g0236 a0002c0004t0001g0260 a0002c0011t0001g0213 a0002c0015t0001g0199 a0002c0018t0001g0176 a0002c0023t0006g0306 a0002c0024t0002g0281 a0002c0031t0001g0254 a0002c0085t0001g0245 a0002c0092t0002g0341 a0002c0096t0001g0259 a0003c0008t0001g0169 a0003c0008t0002g0315 a0003c0008t0002g0333 a0003c0008t0003g0233 a0003c0009t0002g0324 a0003c0009t0002g0334 a0003c0012t0001g0180 a0003c0012t0002g0318 a0003c0014t0002g0319 a0003c0027t0001g0261 a0003c0041t0002g0300 a0003c0046t0002g0292 a0003c0049t0001g0262 a0003c0081t0009g0183 a0003c0099t0003g0232 a0003c0111t0001g0218 a0004c0005t0001g0031 a0004c0005t0001g0056 a0004c0005t0001g0144 a0004c0017t0001g0004 a0004c0021t0001g0035 a0004c0021t0001g0053 a0004c0021t0001g0063 a0004c0022t0001g0048 a0004c0022t0001g0148 a0004c0025t0001g0132 a0004c0035t0001g0067 a0004c0074t0001g0009 a0005c0034t0001g0146 a0005c0034t0001g0165 a0008c0054t0001g0139 a0009c0113t0003g0263	87	344	0.2529	-53	c.85- others(70): Show c.85-11071_85-11019delCATATATACGTATAATTATACGTATATA TAATACATACATACGTATAATTATA		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL6A1_chr21_45976770_46010048	45977804	GGAGAGAG others(46): Show GGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGG GGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA19088.hp1 HG01978.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0006c0011t0002 a0001c0001t0002 a0006c0011t0002	a0001c0001t0002g0082 a0006c0011t0002g0097 a0001c0001t0002g0082 a0006c0011t0002g0097	2	128	0.0156	-53	c.-40 others(64): Show c.-4046_-3994delGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGG GAGAGAGGAGGGAGGGGGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					3965		chr21	TogoVar
COLEC12_chr18_311737_505701	393353	TAGGCACA others(46): Show TAGGCACAGCAAATTTCATATTTCCCTTTTTTCTTTGGTATCTAGGGAGC TCGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG03041.hp1 HG03209.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010	a0001c0003 a0001c0004 a0001c0005 others(12): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0001 a0002c0007 a0003c0002 a0003c0010 a0003c0022 a0003c0027 a0004c0006 a0007c0011 a0008c0015 a0009c0016 a0010c0020	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(61): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0013 a0001c0003t0063 a0001c0003t0067 a0001c0003t0076 a0001c0003t0153 a0001c0003t0163 a0001c0004t0005 a0001c0004t0039 a0001c0004t0051 a0001c0004t0155 a0001c0004t0174 a0001c0004t0175 a0001c0005t0081 a0001c0005t0221 a0001c0008t0017 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0010 a0002c0001t0021 a0002c0001t0034 a0002c0001t0045 a0002c0001t0046 a0002c0001t0113 a0002c0001t0150 a0002c0001t0160 a0002c0001t0173 a0002c0001t0178 a0002c0001t0181 a0002c0001t0219 a0002c0007t0001 a0002c0007t0026 a0002c0007t0085 a0003c0002t0001 a0003c0002t0007 a0003c0002t0011 a0003c0002t0028 a0003c0002t0032 a0003c0002t0033 a0003c0002t0035 a0003c0002t0041 a0003c0002t0043 a0003c0002t0066 a0003c0002t0096 a0003c0002t0106 a0003c0002t0112 a0003c0002t0124 a0003c0002t0127 a0003c0002t0139 a0003c0002t0144 a0003c0010t0254 a0003c0022t0044 a0003c0027t0156 a0004c0006t0236 a0007c0011t0040 a0008c0015t0229 a0009c0016t0064 a0010c0020t0213	a0001c0003t0001g0302 a0001c0003t0002g0124 a0001c0003t0002g0180 others(74): Show a0001c0003t0001g0302 a0001c0003t0002g0124 a0001c0003t0002g0180 a0001c0003t0004g0056 a0001c0003t0004g0071 a0001c0003t0004g0294 a0001c0003t0006g0166 a0001c0003t0006g0234 a0001c0003t0006g0277 a0001c0003t0007g0222 a0001c0003t0008g0236 a0001c0003t0013g0165 a0001c0003t0063g0295 a0001c0003t0067g0187 a0001c0003t0076g0301 a0001c0003t0153g0091 a0001c0003t0163g0281 a0001c0004t0005g0223 a0001c0004t0039g0173 a0001c0004t0051g0006 a0001c0004t0155g0135 a0001c0004t0174g0248 a0001c0004t0175g0095 a0001c0005t0081g0147 a0001c0005t0221g0028 a0001c0008t0017g0350 a0001c0008t0017g0351 a0002c0001t0001g0045 a0002c0001t0001g0267 a0002c0001t0002g0208 a0002c0001t0003g0126 a0002c0001t0003g0150 a0002c0001t0003g0253 a0002c0001t0010g0063 a0002c0001t0021g0082 a0002c0001t0021g0168 a0002c0001t0021g0169 a0002c0001t0034g0105 a0002c0001t0045g0038 a0002c0001t0046g0015 a0002c0001t0113g0149 a0002c0001t0150g0159 a0002c0001t0160g0054 a0002c0001t0173g0022 a0002c0001t0178g0227 a0002c0001t0181g0269 a0002c0001t0219g0148 a0002c0007t0001g0087 a0002c0007t0026g0144 a0002c0007t0085g0030 a0003c0002t0001g0189 a0003c0002t0007g0051 a0003c0002t0011g0285 a0003c0002t0028g0074 a0003c0002t0032g0293 a0003c0002t0033g0011 a0003c0002t0033g0309 a0003c0002t0035g0192 a0003c0002t0041g0307 a0003c0002t0043g0334 a0003c0002t0066g0235 a0003c0002t0096g0027 a0003c0002t0106g0245 a0003c0002t0112g0121 a0003c0002t0124g0114 a0003c0002t0127g0163 a0003c0002t0139g0146 a0003c0002t0144g0093 a0003c0010t0254g0362 a0003c0022t0044g0021 a0003c0027t0156g0125 a0004c0006t0236g0035 a0007c0011t0040g0097 a0007c0011t0040g0228 a0008c0015t0229g0250 a0009c0016t0064g0075 a0010c0020t0213g0154	77	366	0.2104	-53	c.59- others(70): Show c.59-35884_59-35832delCCGAGCTCCCTAGATACCAAAGAAAAAA GGGAAATATGAAATTTGCTGTGCCT		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9						chr18	TogoVar
CPNE7_chr16_89570758_89602246	89587792	ACCCACAG others(46): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01106.hp1 others(12): Show HG00140.hp1 HG00639.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG02486.hp1 HG02486.hp2 HG02735.hp1 HG03516.hp1 NA18944.hp2 NA18977.hp2 NA18980.hp2 NA19065.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0007c0022	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0009t0001 a0007c0022t0004	a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0094 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0174 a0001c0001t0001g0205 a0001c0001t0001g0262 a0001c0001t0001g0341 a0001c0002t0003g0033 a0001c0002t0003g0044 a0001c0002t0003g0260 a0001c0002t0005g0074 a0001c0009t0001g0011 a0007c0022t0004g0288	15	348	0.0431	-53	c.927 others(68): Show c.927+694_927+746delACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	ACCCGCGT others(46): Show ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	348	0.0029	-53	c.928 others(68): Show c.928-633_928-581delGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588042	GCGTGTCA others(46): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	348	0.0029	-53	c.928 others(68): Show c.928-605_928-553delCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38901264	CTGTGACA others(46): Show CTGTGACAGGATGTACATTTGATACCTAACATGCAAAGTCTAGAAATACA CAAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	342	0.0029	-53	c.98+ others(68): Show c.98+4120_98+4172delATTGTGTATTTCTAGACTTTGCATGTTAGG TATCAAATGTACATCCTGTCACA		CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19						chr12	TogoVar
CPVL_chr7_28990235_29151537	29002987	ATTCAGAG others(46): Show ATTCAGAGATACTGACTGAAAAATTTCCAAAATTGACAAAAGTTACCAAG CCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(67): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18973.hp2 NA18978.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0004 a0001c0011 others(6): Show a0001c0001 a0001c0004 a0001c0011 a0001c0019 a0002c0002 a0003c0003 a0003c0010 a0003c0021 a0008c0013	a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 others(8): Show a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 a0001c0019t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 a0003c0010t0001 a0003c0021t0001 a0008c0013t0001	a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0267 others(67): Show a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0004t0002g0157 a0001c0011t0001g0127 a0001c0011t0001g0128 a0001c0019t0001g0059 a0002c0002t0001g0248 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0020 a0003c0003t0001g0027 a0003c0003t0001g0033 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0050 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0077 a0003c0003t0001g0097 a0003c0003t0001g0100 a0003c0003t0001g0103 a0003c0003t0001g0116 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0125 a0003c0003t0001g0137 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0177 a0003c0003t0001g0196 a0003c0003t0001g0198 a0003c0003t0001g0202 a0003c0003t0001g0211 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0219 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0243 a0003c0003t0001g0250 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0271 a0003c0003t0001g0276 a0003c0003t0003g0017 a0003c0003t0003g0105 a0003c0003t0005g0217 a0003c0010t0001g0053 a0003c0010t0001g0055 a0003c0021t0001g0057 a0008c0013t0001g0008	70	282	0.2482	-53	c.132 others(72): Show c.1321-7158_1321-7106delCTGGCTTGGTAACTTTTGTCAATTTT GGAAATTTTTCAGTCAGTATCTCTGAA		CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12						chr7	TogoVar
CRACR2A_chr12_3610328_3758109	3751746	GTATAGAA others(46): Show GTATAGAACCGAGAGGTGACAGGACCTCGGAAGCCGTACCTGAAGCCTCT CACT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp2 others(47): Show HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01081.hp2 HG01167.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04228.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0014 a0015 a0016 a0019 a0020 a0024 a0026 a0028	a0001c0001 a0002c0002 a0003c0003 others(13): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0010c0011 a0014c0016 a0015c0014 a0016c0015 a0019c0032 a0020c0031 a0024c0020 a0026c0022 a0028c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0010c0011t0002 a0014c0016t0001 a0015c0014t0001 a0016c0015t0001 a0019c0032t0002 a0020c0031t0002 a0024c0020t0002 a0026c0022t0001 a0028c0025t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 others(46): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0002c0002t0001g0280 a0003c0003t0001g0109 a0003c0003t0001g0275 a0003c0003t0001g0279 a0003c0003t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0002g0105 a0006c0006t0001g0270 a0007c0008t0001g0291 a0008c0007t0001g0050 a0008c0007t0001g0113 a0010c0011t0002g0106 a0010c0011t0002g0108 a0014c0016t0001g0001 a0015c0014t0001g0029 a0016c0015t0001g0292 a0019c0032t0002g0272 a0020c0031t0002g0111 a0024c0020t0002g0107 a0026c0022t0001g0112 a0028c0025t0001g0114	50	320	0.1563	-53	c.-38 others(72): Show c.-387+1216_-387+1268delAGTGAGAGGCTTCAGGTACGGCTTCC GAGGTCCTGTCACCTCTCGGTTCTATA		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19						chr12	TogoVar
CRELD2_chr22_49913634_49932537	49926685	CCCCGGGT others(46): Show CCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCTCTTGCCCCTCCCTCCC CCCA	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0183 a0003c0004t0002g0183	1	324	0.0031	-53	c.101 others(70): Show c.1010-566_1010-514delGGGTCCCCTCTTGCCCCTCCCTCCCCCC CTCTTGCCCCTCCCTCCCCCCACCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926707	CCCTCCCC others(46): Show CCCTCCCCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGC CCCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0177 a0003c0017t0002g0177	1	324	0.0031	-53	c.101 others(70): Show c.1010-545_1010-493delTCCCCCCCTCTTGCCCCTCCCTCCCCCC ACCCCGGGTCCCCTCTTGCCCCTCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923819	CCCCCACA others(46): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03579.hp2 HG01261.hp1 HG03579.hp2	a0002 a0046 a0002 a0046	a0002c0070 a0046c0069 a0002c0070 a0046c0069	a0002c0070t0001 a0046c0069t0001 a0002c0070t0001 a0046c0069t0001	a0002c0070t0001g0188 a0046c0069t0001g0187 a0002c0070t0001g0188 a0046c0069t0001g0187	2	350	0.0057	-53	c.488 others(70): Show c.488+1189_488+1241delGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985462	CCACACAC others(46): Show CCACACACACACACCCAGGCACTCACTCCACACACACACCCAGGCACTCA CTCT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	1	350	0.0029	-53	c.455 others(72): Show c.4551+2434_4551+2486delCACACACACACACCCAGGCACTCACT CCACACACACACCCAGGCACTCACTCT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31						chr2	TogoVar
CSMD1_chr8_2930361_4999914	4920897	AAAAGAAA others(46): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp2 HG03710.hp1 NA19030.hp2	a0001 a0012 a0001 a0012	a0001c0006 a0012c0104 a0001c0006 a0012c0104	a0001c0006t0060 a0012c0104t0071 a0001c0006t0060 a0012c0104t0071	a0001c0006t0060g0103 a0012c0104t0071g0058 a0001c0006t0060g0103 a0012c0104t0071g0058	2	126	0.0159	-53	c.85+ others(70): Show c.85+73382_85+73434delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494461	CCTTTCTC others(46): Show CCTTTCTCTTTCTTTTCTTTTGTTTCTTTCTCTCCTTTCTTTCTTTCTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01175.hp2 HG01257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0033 a0001c0001 a0002c0033	a0001c0001t0002 a0002c0033t0002 a0001c0001t0002 a0002c0033t0002	a0001c0001t0002g0022 a0002c0033t0002g0029 a0001c0001t0002g0022 a0002c0033t0002g0029	2	80	0.0250	-53	c.508 others(72): Show c.5084-1831_5084-1779delAAAGAAAGAAAGAAAGAAAGGAGAGA AAGAAACAAAAGAAAAGAAAGAGAAAG		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542633	TATATATG others(46): Show TATATATGTATATATATATATATATATATATATATATATGTATATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0058 a0001c0001t0012g0058	1	390	0.0026	-53	c.230 others(70): Show c.230+7389_230+7441delTATATATATATATACATATATATATATA TATATATATATATATATACATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542635	TATATGTA others(46): Show TATATGTATATATATATATATATATATATATATATATGTATATATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	390	0.0026	-53	c.230 others(70): Show c.230+7387_230+7439delTATATATATATATATACATATATATATA TATATATATATATATATATACATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542642	ATATATAT others(46): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	390	0.0026	-53	c.230 others(70): Show c.230+7380_230+7432delAAATATATATATATATATATATACATAT ATATATATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSTF3_chr11_33079584_33166480	33163887	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	360	0.0028	-53	c.-26 others(64): Show c.-2615_-2563delAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2408		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163889	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	360	0.0028	-53	c.-26 others(64): Show c.-2617_-2565delAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2410		chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931029	GAGCAGGT others(46): Show GAGCAGGTCTAAGTCGGAGGCCAAGGTCTGCGGAGTCAAGGACAGCTTCT GAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0154 a0002c0001t0154	a0002c0001t0154g0347 a0002c0001t0154g0347	1	386	0.0026	-53	c.199 others(70): Show c.199-1481_199-1429delTTTCAGAAGCTGTCCTTGACTCCGCAGA CCTTGGCCTCCGACTTAGACCTGCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F8_chr19_15610218_15635639	15616044	ACTCACTC others(46): Show ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCATTCACTCAT TCTC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0063 a0001c0004t0004g0063	1	412	0.0024	-53	c.198 others(68): Show c.198+271_198+323delTTCACTCATTCTCCTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCA		CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	TCCCGAAC others(46): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0296 a0001c0001t0002g0295 a0001c0001t0001g0296 a0001c0001t0002g0295	2	374	0.0054	-53	c.304 others(68): Show c.304-814_304-762delCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCA		DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132144123	TGCAGCCG others(46): Show TGCAGCCGCCTCGGTCTGCGCGGGCTCCCGCTGCTGCTGCCGTTCGCGGG CCCG	T T	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0034 a0013c0021t0001g0034	1	334	0.0030	-53	c.121 others(60): Show c.121_173delCGGGCCCGCGAACGGCAGCAGCAGCGGGAGCCCGCGCA GACCGAGGCGGCTGC	p.Arg others(4): Show p.Arg41fs	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	1/15	196/4702	121/2001	41/666			chr12	TogoVar
DERA_chr12_15906332_16042381	16019069	TGGTGTTG others(46): Show TGGTGTTGGTAATTCAAAATGTAGCATTTATTTCTCTAAAGTAATTTCGT TTTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	258	0.0039	-53	c.638 others(72): Show c.638-13471_638-13419delGTGTTGGTAATTCAAAATGTAGCATT TATTTCTCTAAAGTAATTTCGTTTTAG		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DGKD_chr2_233349494_233477098	233397484	TGGCGGGG others(46): Show TGGCGGGGGGCCAGAGCGAGGCGAGAGGACACCAGAGGGGACCAGGGTGG CTGG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	336	0.0030	-53	c.348 others(70): Show c.348+7004_348+7056delCGGGGGGCCAGAGCGAGGCGAGAGGACA CCAGAGGGGACCAGGGTGGCTGGGG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774731	TGTATTCT others(46): Show TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCC TACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0249 a0002c0002t0003g0249	1	420	0.0024	-53	c.364 others(68): Show c.364-750_364-698delTGTAGGAGAATACATGTAGGAGAATACTGT AGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 NA20129.hp1 HG01891.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004	3	284	0.0106	-53	c.101 others(72): Show c.101-46331_101-46279delATATATATATATATATATATATATAT ATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	336925	GGAGGCCT others(46): Show GGAGGCCTAGACTGGTGTGTGCGCGTGTGTGTGTGTTGTGGAGGCCTAGG CAGC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	-53	c.358 others(72): Show c.3584+4221_3584+4273delGCTGCCTAGGCCTCCACAACACACAC ACACGCGCACACACCAGTCTAGGCCTC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	840585	CGTCTCCC others(46): Show CGTCTCCCCACACTCTGGATTCTGCGAGCGCGTCCACACGGTGCACGCCT GCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0002t0027 a0001c0003t0013 a0001c0002t0006 a0001c0002t0027 a0001c0003t0013	a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007 a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007	3	40	0.0750	-53	c.19- others(70): Show c.19-67319_19-67267delCACACTCTGGATTCTGCGAGCGCGTCCA CACGGTGCACGCCTGCATGTCTCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	840631	GCCTGCAT others(46): Show GCCTGCATGTCTCCCTACACTCTGGATTCTGCGAGCGCGTCCACACGGTG CACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-53	c.19- others(70): Show c.19-67276_19-67224delCATGTCTCCCTACACTCTGGATTCTGCG AGCGCGTCCACACGGTGCACACCTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1088788	ACTCCCCC others(46): Show ACTCCCCCCACCCCACTCTCTCCACCCCTCATCCAGCAGGCTATGCCATT CTCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01361.hp1 others(19): Show HG00639.hp1 HG01071.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0004 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0024 a0001c0009t0012 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0007t0008 a0003c0005t0002	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 others(19): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0007g0038 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0007t0008g0040 a0003c0005t0002g0031	22	40	0.5500	-53	c.74- others(72): Show c.74-170016_74-169964delATTCTCGCTCCCCCCACCCCACTCTC TCCACCCCTCATCCAGCAGGCTATGCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452286	AGGAAAGG others(46): Show AGGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18948.hp1 NA18989.hp1 others(1): Show HG02723.hp1 NA18948.hp1 NA18989.hp1 NA19000.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0008 a0007c0018 a0001c0001 a0003c0008 a0007c0018	a0001c0001t0002 a0001c0001t0016 a0003c0008t0012 others(1): Show a0001c0001t0002 a0001c0001t0016 a0003c0008t0012 a0007c0018t0001	a0001c0001t0002g0032 a0001c0001t0016g0038 a0003c0008t0012g0117 others(1): Show a0001c0001t0002g0032 a0001c0001t0016g0038 a0003c0008t0012g0117 a0007c0018t0001g0068	4	126	0.0318	-53	c.360 others(72): Show c.3603+2323_3603+2375delCTTTCACTTTCACTTTCACTTTCACT TTCACTTTCCCTTTCCTTTTCCTTTCC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DNAH17_chr17_78418697_78582396	78540930	GGTGGGTG others(46): Show GGTGGGTGGGTGGGTGGATCGGTGGATGAGTGGATGGGTGGATGGGTGGG TGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0031 a0031	a0031c0163 a0031c0163	a0031c0163t0001 a0031c0163t0001	a0031c0163t0001g0156 a0031c0163t0001g0156	1	252	0.0040	-53	c.253 others(72): Show c.2533-1103_2533-1051delGCCACCCACCCATCCACCCATCCACT CATCCACCGATCCACCCACCCACCCAC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157369898	TATTATTA others(46): Show TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCT TAAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0156 a0001c0001t0006g0157	2	372	0.0054	-53	c.346 others(70): Show c.346+2426_346+2478delAGGCCCCTTCTTAACATTATTATTAAAC GGGACCCTTCTTAAGATTATTAAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369909	AGGCCCCT others(46): Show AGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTA AACG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	372	0.0027	-53	c.346 others(70): Show c.346+2432_346+2484delCTTCTTAACATTATTATTAAACGGGACC CTTCTTAAGATTATTAAACGGGCCC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418917	GTGCTGCA others(46): Show GTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAGCGTCTGCTGAGGGGG TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(117): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG02015.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18989.hp1 NA18993.hp1 NA18999.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0003t0006 a0001c0005t0001 a0004c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0058 a0001c0001t0003g0099 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0003g0238 a0001c0001t0003g0372 a0001c0001t0006g0235 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0010g0100 a0001c0001t0010g0105 a0001c0001t0010g0336 a0001c0001t0013g0145 a0001c0001t0013g0341 a0001c0001t0015g0234 a0001c0001t0023g0091 a0001c0001t0024g0146 a0001c0003t0006g0158 a0001c0005t0001g0148 a0004c0004t0003g0107	120	372	0.3226	-53	c.28 others(64): Show c.2820_*2872delTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAG CGTCTGCTGAGGGGGTGGA		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding					1479		chr7	TogoVar
DNAJC5_chr20_63890126_63941011	63932765	AGAATCCA others(46): Show AGAATCCACACGTGGACCATTGTGGGTCCCTGGGAGGCCGGCAGCCAGGC CACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0027 a0001c0001t0050g0027	1	372	0.0027	-53	c.12 others(64): Show c.1228_*1280delGGGAGGCCGGCAGCCAGGCCACGGAATCCACACG TGGACCATTGTGGGTCCCT		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	5/5				1228	INFO_REALIGN_3_PRIME	chr20	TogoVar
DONSON_chr21_33572551_33593684	33577649	ACACACAC others(46): Show ACACACACACACACACACACACACACACACACACACACACACACACACAC ACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0042 a0001c0001t0118g0042	1	426	0.0024	-53	c.60 others(62): Show c.605_*657delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTG		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10				605		chr21	TogoVar
DPH7_chr9_137549444_137583925	137550712	GCCGCTGG others(46): Show GCCGCTGGGGAGTGGGTGCAGCTGGGGAGGGGGTGGATCCGGCGTGTAGG GGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03098.hp1 NA18522.hp1 HG01891.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0017 a0001c0001t0003g0244 a0001c0001t0003g0247	3	340	0.0088	-53	c.44 others(64): Show c.4474_*4526delTACCCCTACACGCCGGATCCACCCCCTCCCCAGC TGCACCCACTCCCCAGCGG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					3731		chr9	TogoVar
DPH7_chr9_137549444_137583925	137550877	AGGGAGGG others(46): Show AGGGAGGGGGTGCAGCTGGGGAGGGGGTGGATCTGGGGTGTGGGGGTGCC GCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19054.hp1 NA18964.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	340	0.0059	-53	c.43 others(64): Show c.4309_*4361delCAGCGGCACCCCCACACCCCAGATCCACCCCCTC CCCAGCTGCACCCCCTCCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					3566		chr9	TogoVar
DSCAML1_chr11_117422772_117802216	117577454	TTCCTTTC others(46): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01123.hp2 others(3): Show HG00673.hp1 HG00673.hp2 HG01123.hp2 HG02258.hp1 HG03486.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0042 a0002c0004 others(2): Show a0001c0008 a0001c0042 a0002c0004 a0002c0059 a0002c0060	a0001c0008t0001 a0001c0042t0003 a0002c0004t0004 others(2): Show a0001c0008t0001 a0001c0042t0003 a0002c0004t0004 a0002c0059t0002 a0002c0060t0002	a0001c0008t0001g0137 a0001c0008t0001g0167 a0001c0042t0003g0127 others(3): Show a0001c0008t0001g0137 a0001c0008t0001g0167 a0001c0042t0003g0127 a0002c0004t0004g0151 a0002c0059t0002g0040 a0002c0060t0002g0193	6	194	0.0309	-53	c.512 others(72): Show c.512-44985_512-44933delGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117769499	TAATATAT others(46): Show TAATATATATTTTATATATATTATATATATTTTATATATATTATATATTT TATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01257.hp1 others(3): Show HG00280.hp1 HG00741.hp2 HG01257.hp1 HG01515.hp1 HG02738.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0035 a0002c0001 a0002c0002 others(2): Show a0001c0035 a0002c0001 a0002c0002 a0002c0006 a0002c0010	a0001c0035t0003 a0002c0001t0004 a0002c0002t0004 others(3): Show a0001c0035t0003 a0002c0001t0004 a0002c0002t0004 a0002c0006t0001 a0002c0010t0002 a0002c0010t0004	a0001c0035t0003g0170 a0002c0001t0004g0082 a0002c0002t0004g0086 others(3): Show a0001c0035t0003g0170 a0002c0001t0004g0082 a0002c0002t0004g0086 a0002c0006t0001g0164 a0002c0010t0002g0018 a0002c0010t0004g0058	6	194	0.0309	-53	c.511 others(70): Show c.511+7239_511+7291delTATAAAATATATAATATATATAAAATAT ATATAATATATATAAAATATATATT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar

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