Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF823_chr19_11716265_11743946	11732445	ATGAGCCA others(127): Show ATGAGCCACCGCGCCCGGCCATTTTTTTGTATTTTTAGTAGAAACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCAGACCTCGTGATCGGCC CGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02818.hp2 others(3): Show HG01884.hp1 HG02280.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0202 a0001c0001t0002g0043 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0202 a0001c0001t0002g0043 a0001c0001t0002g0200	6	422	0.0142	-134	c.3+6 others(13): Show c.3+6238_3+6371del	ZNF823	ENSG00000197933.13	transcript	ENST00000341191.11	protein_coding	1/3			chr19	TogoVar
ZNF875_chr19_37329649_37369447	37336666	TGGGAGGC others(127): Show TGGGAGGCTGAGGCAGGCGAATCACGAGGTCAGGAGATGGAGACCATCCT GGCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAGAAATTAGCTG GGCATGGTGGCAAGCGCCTGTAGTCCCAGCTACTC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0126 a0004c0004t0001g0126	1	382	0.0026	-134	c.33+ others(15): Show c.33+1426_33+1559del	ZNF875	ENSG00000181666.19	transcript	ENST00000392153.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZZEF1_chr17_3999445_4148030	4132650	GTGAAACC others(127): Show GTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACG AAGTCAGGAGATCAAGACCATCCTGGCTAACACGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0243 a0006c0008t0002g0243	1	296	0.0034	-134	c.355 others(17): Show c.355-8733_355-8600del	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	1/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4132660	ATCTCTAC others(127): Show ATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAG ATCAAGACCATCCTGGCTAACACGATGAAACCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp1 others(117): Show HG00140.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20805.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0008 a0009 a0010 a0016 a0023 a0025 a0029	a0001c0001 a0001c0016 a0001c0047 others(13): Show a0001c0001 a0001c0016 a0001c0047 a0001c0048 a0001c0049 a0001c0054 a0003c0003 a0004c0009 a0008c0007 a0009c0010 a0010c0013 a0010c0050 a0016c0023 a0023c0046 a0025c0051 a0029c0053	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0016t0001 a0001c0047t0001 a0001c0048t0003 a0001c0049t0001 a0001c0054t0024 a0003c0003t0004 a0003c0003t0013 a0004c0009t0003 a0008c0007t0002 a0008c0007t0008 a0009c0010t0001 a0010c0013t0003 a0010c0050t0003 a0016c0023t0001 a0023c0046t0003 a0025c0051t0001 a0029c0053t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 others(116): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0023g0115 a0001c0001t0025g0082 a0001c0001t0026g0047 a0001c0001t0027g0055 a0001c0016t0001g0046 a0001c0016t0001g0057 a0001c0016t0001g0134 a0001c0047t0001g0080 a0001c0048t0003g0119 a0001c0049t0001g0060 a0001c0054t0024g0024 a0003c0003t0004g0288 a0003c0003t0013g0283 a0004c0009t0003g0001 a0008c0007t0002g0122 a0008c0007t0002g0124 a0008c0007t0008g0093 a0008c0007t0008g0110 a0008c0007t0008g0120 a0008c0007t0008g0121 a0008c0007t0008g0125 a0008c0007t0008g0127 a0009c0010t0001g0026 a0009c0010t0001g0034 a0009c0010t0001g0035 a0009c0010t0001g0036 a0009c0010t0001g0037 a0009c0010t0001g0139 a0010c0013t0003g0071 a0010c0013t0003g0085 a0010c0013t0003g0086 a0010c0013t0003g0088 a0010c0050t0003g0097 a0016c0023t0001g0126 a0016c0023t0001g0132 a0023c0046t0003g0038 a0025c0051t0001g0069 a0029c0053t0001g0033	120	296	0.4054	-134	c.355 others(17): Show c.355-8743_355-8610del	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	1/54			chr17	TogoVar
ABHD6_chr3_58232792_58299734	58290406	AGTAGGGG others(126): Show AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTACCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCAGGGGCTGACCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	302	0.0033	-133	c.838 others(17): Show c.838-3181_838-3049del	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAP2_chr3_195269745_195448020	195272798	AGTAGGCA others(126): Show AGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCT GAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGA GATCATAACACTGCACTCCAGCCTGGGCGACAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0207 a0001c0003t0026g0207	1	324	0.0031	-133	c.63 others(11): Show c.6397_*6529del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1946		chr3	TogoVar
ACAT2_chr6_159757045_159784112	159771116	TCATGCCT others(126): Show TCATGCCTGTAATCCCAGCACTTTGGGAGGTCAATGCAGGCAGATCACCT GAGGTCGGGAGTTTGAGACCCACATGACCAACATGGAGAAACTCCATCTC TACTAAAAATACAAAATTAGCCAGGCTGGTGGCG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	404	0.0025	-133	c.490 others(17): Show c.490+2507_490+2639del	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACSS2_chr20_34871612_34932959	34889369	TCCTCGGC others(126): Show TCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGTGCCACTGCGCCTG GCCAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCATGTTGGCCAGG CTGGTCTCAAACTCCTGACCTTGTGACCCGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(158): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19063.hp1 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0004c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(154): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 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 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0003g0186 a0001c0002t0002g0012 a0004c0006t0001g0106 a0004c0006t0001g0285	161	312	0.5160	-133	c.374 others(17): Show c.374+6412_374+6544del	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACVR1B_chr12_51946699_52002078	51960973	CTCTGAAC others(126): Show CTCTGAACCCAGTGTAGCTAATATTTTTTCACAGCCCTTTGCTTTCCCTT TTCCTTTTCTCTGGAATGCTTCTCCCCACTTCTCTTCCTAGCCAAACCCA GCGTCCTCCAGTGTGGACCTTCGTCCTCTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(99): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02293.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0031 a0001c0007t0002	a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0121 others(89): Show a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0184 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0019g0075 a0001c0001t0031g0044 a0001c0007t0002g0079	102	324	0.3148	-133	c.91+ others(15): Show c.91+9143_91+9275del	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235916	CACAGTGG others(126): Show CACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGA TTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCAC AGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG02257.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0008 a0002c0002t0005 a0002c0002t0008	a0002c0002t0005g0033 a0002c0002t0008g0047 a0002c0002t0005g0033 a0002c0002t0008g0047	2	106	0.0189	-133	c.136 others(19): Show c.1362-2204_1362-2072del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRL2_chr1_81795934_81998932	81995249	GTGGTGAA others(126): Show GTGGTGAAACCCCGTCTCTACTAAAATACAAAACTAGCTGGGCGTGGTGG CATGCACATGTAATCCCAGCACTATGGGAAGCTGAGGCGGGCGGATCATC TGAGTGCGGGAGTTTGAGACCAGCATGGCTAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0034 a0001c0013t0003g0034	1	306	0.0033	-133	c.41 others(11): Show c.4105_*4237del	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding		1318		chr1	TogoVar
ADIPOR2_chr12_1686070_1793674	1774834	AGCTGGGA others(126): Show AGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTG ACCTCGTGATCTGCCCGCCTCGGCCTCCCATAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004 a0003c0006 a0004c0009 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0003 a0001c0002t0016 a0001c0002t0018 a0001c0002t0020 a0001c0002t0026 a0001c0008t0003 a0002c0004t0008 a0003c0006t0001 a0004c0009t0019 a0005c0007t0014	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(318): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0122 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0005 a0001c0001t0002g0065 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0316 a0001c0001t0002g0371 a0001c0001t0004g0023 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0028 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0160 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0267 a0001c0001t0006g0069 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0006g0305 a0001c0001t0006g0369 a0001c0001t0006g0372 a0001c0001t0009g0289 a0001c0001t0009g0321 a0001c0001t0009g0322 a0001c0001t0009g0335 a0001c0001t0009g0351 a0001c0001t0010g0133 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0010g0148 a0001c0001t0011g0159 a0001c0001t0011g0167 a0001c0001t0011g0170 a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0120 a0001c0001t0014g0222 a0001c0001t0015g0066 a0001c0001t0015g0288 a0001c0001t0017g0276 a0001c0001t0017g0279 a0001c0001t0021g0212 a0001c0001t0022g0228 a0001c0001t0023g0323 a0001c0001t0025g0194 a0001c0001t0027g0355 a0001c0001t0028g0192 a0001c0001t0029g0315 a0001c0002t0003g0002 a0001c0002t0003g0054 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0121 a0001c0002t0003g0224 a0001c0002t0003g0266 a0001c0002t0016g0088 a0001c0002t0016g0091 a0001c0002t0018g0082 a0001c0002t0020g0112 a0001c0002t0026g0271 a0001c0008t0003g0070 a0002c0004t0008g0248 a0002c0004t0008g0249 a0002c0004t0008g0250 a0002c0004t0008g0251 a0002c0004t0008g0252 a0003c0006t0001g0008 a0003c0006t0001g0009 a0004c0009t0019g0177 a0005c0007t0014g0260	326	378	0.8624	-133	c.291 others(17): Show c.291+2022_291+2154del	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AHDC1_chr1_27529245_27609144	27608853	TGTGTGTG others(126): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG GTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGGTATG TGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01175.hp1 HG00323.hp2 HG01074.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0009 a0001c0006t0008 a0001c0002t0001 a0001c0002t0009 a0001c0006t0008	a0001c0002t0001g0093 a0001c0002t0009g0053 a0001c0006t0008g0051 a0001c0002t0001g0093 a0001c0002t0009g0053 a0001c0006t0008g0051	3	180	0.0167	-133	c.-57 others(11): Show c.-5743_-5611del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4710		chr1	TogoVar
AKAP5_chr14_64460499_64479503	64464171	AACTGGGA others(126): Show AACTGGGACCATACGTGCACCACCATGCCCAGCTAATTTTTTAGATTTTT TTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGACTCAAGCCA TCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02572.hp2 HG02698.hp2 others(2): Show HG01192.hp2 HG02572.hp2 HG02698.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	426	0.0117	-133	c.-17 others(11): Show c.-1705_-1573del	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding		1327		chr14	TogoVar
ATXN1L_chr16_71840976_71862328	71840994	AGTGGCTC others(126): Show AGTGGCTCACCCCTGTAATCCCAGCTCTTTTGGAGGCTGAGGCGGGGATC ACCTGAGGTCAGGAGTTCTAGACCAGCCTGACTAACGTGGCGAAACCCTT CCTCTATTAAAAATACAAAATTTAGCCGGGCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0032 a0001c0001t0023g0032	1	418	0.0024	-133	c.-52 others(11): Show c.-5289_-5157del	ATXN1L	ENSG00000224470.9	transcript	ENST00000427980.7	protein_coding		4981		chr16	TogoVar
BBS4_chr15_72681207_72743473	72725798	CCCCCATC others(126): Show CCCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTC CCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp1 HG00408.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0002g0269 a0001c0001t0001g0171 a0001c0001t0002g0269	2	398	0.0050	-133	c.587 others(17): Show c.587+1148_587+1280del	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCL11A_chr2_60452194_60558654	60538983	GAATTGGG others(126): Show GAATTGGGAGGTGGCAGAGTTGGGGAGACAACTCCAAGAGAAGAAAAGGA TGATGTTTTCATTTCGCTATAGATCAAAGGAGAACAAGAATGGAAACTGT GGCATATCGAGCATTTTTCCATTGCTGTCTTTCA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0199 a0001c0003t0009g0199	1	262	0.0038	-133	c.385 others(17): Show c.385+6855_385+6987del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BRDT_chr1_91944401_92019421	91962189	AAAATCCA others(126): Show AAAATCCAAGGCTAAGGCATATATAGTGAAACTTTTACTATTTGTATATA AAAAATTTGTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCTTTTTT TTTTTTTCATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0295 a0004c0004t0002g0295	1	318	0.0031	-133	c.-37 others(15): Show c.-37-525_-37-393del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
C16orf74_chr16_85702517_85756096	85745548	TGCTGGCT others(126): Show TGCTGGCTGGAGGGACCCTGCTTTTCAAAGACAGAGAATCTCCCGCTGGC TGAGGGACCCTGCTCACTGCCTACCAGAGACAGAATCTCCCGCTGGCTGG AGGGACCCTGCTTTTCAAAGACACAGAATCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	410	0.0024	-133	c.-19 others(17): Show c.-19+5245_-19+5377del	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	1/3			chr16	TogoVar
C1QTNF12_chr1_1237453_1251722	1249417	GCCCTGGG others(126): Show GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	328	0.0031	-133	c.-28 others(11): Show c.-2860_-2728del	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2696		chr1	TogoVar
C7orf50_chr7_992006_1143247	1039420	GGGGGTCA others(126): Show GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(26): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01099.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02572.hp1 HG02698.hp2 HG02809.hp2 HG02965.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03540.hp2 HG04204.hp1 HG04228.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18983.hp1 NA18994.hp2 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0008c0009t0006	a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0002g0318 others(26): Show a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0002g0318 a0001c0001t0003g0293 a0001c0001t0003g0298 a0001c0001t0005g0237 a0001c0001t0005g0247 a0001c0001t0005g0287 a0001c0001t0006g0081 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0157 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0017g0084 a0001c0001t0017g0096 a0008c0009t0006g0003	29	326	0.0890	-133	c.130 others(19): Show c.130-29410_130-29278del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004982	GAGGGGGG others(126): Show GAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGA GTTAGGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAAGGGGGAGTTAG GGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02040.hp1 others(12): Show HG00621.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG03491.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA19001.hp2 NA19056.hp1 NA19058.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 others(6): Show a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0003t0002g0005 a0001c0003t0002g0056 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0075 a0001c0003t0002g0076	15	394	0.0381	-133	c.-14 others(19): Show c.-147+4549_-147+4681del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC137_chr17_81661737_81678899	81664638	AGCTGGGA others(126): Show AGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTGTATTTT TAGTAAAGATGGGATTTCACCATGTTGGTCAGGCTGGTCTCCATCTCCTG ACCTCATGATCTGCCCGCCTCAGCCTCCCAAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01934.hp2 HG01069.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	412	0.0049	-133	c.-21 others(11): Show c.-2128_-1996del	CCDC137	ENSG00000185298.13	transcript	ENST00000329214.13	protein_coding		2098		chr17	TogoVar
CDC25A_chr3_48152146_48193417	48155643	AAAAATAT others(126): Show AAAAATATAAAATTAGCTGGGTGTGGTGGCACATGCCCGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGGGGATCACCTGAGGTCAGGAGTTCAAGACC AGCCTGACCAACATGGAGAAACCCCGTCTCTACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	340	0.0029	-133	c.31 others(11): Show c.3169_*3301del	CDC25A	ENSG00000164045.12	transcript	ENST00000302506.8	protein_coding		1502		chr3	TogoVar
CENPVL3_chrX_51612020_51623912	51621557	CTTCTTCT others(126): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG01243.hp1 others(34): Show HG00673.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01981.hp1 HG02135.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18961.hp1 NA18967.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18995.hp1 NA19004.hp1 NA19030.hp2 NA19072.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0003c0003t0001g0000	37	298	0.1242	-133	c.-28 others(11): Show c.-2817_-2685del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2646		chrX	TogoVar
CFAP206_chr6_87402972_87469465	87408455	TGCGCACA others(126): Show TGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGCGCGCACACAGA TCCGGAGCGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGCGCGC ACACAGATCCGGAGCGCGCACACAGATCCGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp2 others(111): Show HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0004 a0004c0005 a0006c0010	a0001c0001t0001 a0001c0007t0001 a0001c0008t0002 others(5): Show a0001c0001t0001 a0001c0007t0001 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0004c0005t0001 a0006c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(99): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0007t0001g0240 a0001c0007t0001g0241 a0001c0007t0001g0247 a0001c0008t0002g0026 a0001c0008t0002g0248 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0242 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0002g0258 a0003c0004t0001g0020 a0003c0004t0001g0244 a0003c0004t0001g0245 a0003c0004t0001g0246 a0004c0005t0001g0261 a0004c0005t0001g0262 a0004c0005t0001g0263 a0004c0005t0001g0264 a0006c0010t0001g0256 a0006c0010t0001g0257	114	376	0.3032	-133	c.-6+ others(13): Show c.-6+389_-6+521del	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLOCK_chr4_55422903_55551909	55482160	TGTCGCTG others(126): Show TGTCGCTGAGGTTTGGTGTACCAATGATCTCACCACCCAAGTAGTGAGCA CAGTACCCAATAGTTTTTTAACCCTCACTGCCCCCTTCCACCCTCCTCCA AAAATTTCAAGTATTAAAATCAAAGGAATATGGA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0024 a0001c0001t0016g0024	1	338	0.0030	-133	c.47+ others(13): Show c.47+446_47+578del	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	4/22			chr4	TogoVar
CMKLR2_chr2_206170316_206218371	206172904	AGGGAGAG others(126): Show AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18985.hp1 NA19085.hp2 NA18979.hp2 NA18985.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0264	3	322	0.0093	-133	c.31 others(11): Show c.3143_*3275del	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2411		chr2	TogoVar
CMTM8_chr3_32233680_32375321	32306946	CGCCTGTA others(126): Show CGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTAGGTGGATCACGAGGA CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTTGTGGAT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	-133	c.148 others(19): Show c.148-50413_148-50281del	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COLQ_chr3_15445133_15526706	15446247	GCTCACAT others(126): Show GCTCACATCTGTCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACTTGAGGTCAGGAGTTCGAGACCAGCCCAGCCAACATGATGAAACCC CATCTCTACTAAAAGTACAGGCCGGGTGCGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02970.hp1 HG01081.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0329 a0001c0001t0001g0330	2	382	0.0052	-133	c.52 others(11): Show c.5264_*5396del	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding		3885		chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587958	ACCCACAG others(126): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTTACCCACAGATACACGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG02300.hp2 others(5): Show HG01175.hp2 HG01192.hp1 HG02300.hp2 HG03471.hp2 NA18940.hp2 NA19030.hp1 NA19067.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0023 others(1): Show a0001c0001 a0001c0002 a0001c0023 a0004c0011	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0023t0001 a0004c0011t0001	a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0220 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0220 a0001c0001t0001g0262 a0001c0002t0003g0049 a0001c0002t0004g0039 a0001c0023t0001g0195 a0004c0011t0001g0092	8	348	0.0230	-133	c.928 others(15): Show c.928-713_928-581del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRPPA_chr7_16082525_16426538	16367419	CTTGGTGA others(126): Show CTTGGTGAATATAAAGAAAAGACACTTCATAAAATTTCATCTTTTTGACT TGTTCCTGTTAACTCAGTATTTAAAACCCAAACTTGTTGACAGTACGAGA TACAAGTCTTATTTATTCTAGCATGTGGGGTACA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02135.hp2 HG02559.hp2 others(1): Show HG01255.hp1 HG02135.hp2 HG02559.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0073 a0001c0001t0002 a0001c0001t0003 a0001c0001t0073	a0001c0001t0002g0174 a0001c0001t0003g0155 a0001c0001t0003g0156 others(1): Show a0001c0001t0002g0174 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0073g0140	4	290	0.0138	-133	c.684 others(17): Show c.684+8540_684+8672del	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CSF2RA_chrX_1263814_1314935	1314433	GCACTGCA others(126): Show GCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCTA CCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCACT GCACCTGCCCAATCCCACTGCACCTGCCCAATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0028 a0002c0006t0005g0028	1	159	0.0063	-133	c.49 others(11): Show c.4955_*5087del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4499		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314602	CCCCACTG others(126): Show CCCCACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACC TGCCCAACTGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCA CTGTGCCTGCCCAATCGCACTGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG02683.hp1 others(1): Show HG00140.hp1 HG01358.hp1 HG02683.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0087 a0001c0001t0003g0133 a0001c0001t0003g0148 others(1): Show a0001c0001t0003g0087 a0001c0001t0003g0133 a0001c0001t0003g0148 a0002c0003t0001g0147	4	159	0.0252	-133	c.51 others(11): Show c.5124_*5256del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4668		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314621	CCACACTG others(126): Show CCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACT TGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGTGCCTGCCCAATCGCA CTGCACCTGCCCAATCCCACTGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	159	0.0063	-133	c.51 others(11): Show c.5143_*5275del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4687		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314699	CCACTGTG others(126): Show CCACTGTGCCTGCCCAATCGCACTGCACCTGCCCAATCCCACTGCACCTG CCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACT GCACCTGCCCAACCCCACTGTGCCTGCCCAACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0127 a0002c0004t0005g0127	1	159	0.0063	-133	c.52 others(11): Show c.5221_*5353del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4765		chrX	TogoVar
CSMD1_chr8_2930361_4999914	3795681	TCATGTAT others(126): Show TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0116 a0006c0116	a0006c0116t0004 a0006c0116t0004	a0006c0116t0004g0039 a0006c0116t0004g0039	1	126	0.0079	-133	c.819 others(19): Show c.819-41772_819-41640del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112405924	GCCTGTAA others(126): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTC AGGGGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAA AAATAGAAAAATTAGCTGGGCGTGGTGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03195.hp1 HG01433.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0034 a0001c0010t0017g0035 a0001c0010t0017g0034 a0001c0010t0017g0035	2	324	0.0062	-133	c.-13 others(19): Show c.-133-6255_-133-6123del	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CXorf66_chrX_139950728_139970521	139963637	GCATCACT others(126): Show GCATCACTCTACCTTACTTCAAACTATACTACAAGGCTACAGTAACCAAA ACAGTATGGTGCTGGTACCAAAACAGATACATAGACCAAAGGAACAAAAC AGAGGCCTCAGAAATGACACCACACATTTAAAGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(103): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19063.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0008 a0002c0002 a0002c0004 a0004c0008	a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 a0004c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 others(16): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0003g0052 a0002c0004t0001g0014 a0004c0008t0001g0048	106	298	0.3557	-133	c.88+ others(15): Show c.88+1639_88+1771del	CXorf66	ENSG00000203933.3	transcript	ENST00000370540.2	protein_coding	1/2			chrX	TogoVar
DAG1_chr3_49465267_49540615	49527129	TGCCTGTA others(126): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGT CGGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTA AAAATACGAAAAATTGCCGGGCGCGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0057 a0001c0013t0013g0057	1	238	0.0042	-133	c.286 others(17): Show c.286-3639_286-3507del	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DCAF8L2_chrX_27585344_27754942	27627617	CGGGCACA others(126): Show CGGGCACAGTGTCTCATGCCTGTAATCTCAGCACTTTGGGAAGCTGAGCC AGGTGGATCACGAGGTCAGGAGATCGAGACCCTCCTGGACAACATGGTGA AACCCTGTCTCTACCAAAAATACAAAAATTAGCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01192.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01928.hp1 HG01943.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(6): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0002c0002t0002g0211	9	262	0.0344	-133	c.-34 others(19): Show c.-341-4257_-341-4125del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3725452	AGGGAGGA others(126): Show AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	324	0.0031	-133	c.340 others(17): Show c.340-1548_340-1416del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132148924	ACCCCTAA others(126): Show ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-133	c.-47 others(11): Show c.-4761_-4629del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4606		chr12	TogoVar
DGKH_chr13_42043648_42247896	42161387	ACCTGTAA others(126): Show ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGGGGTC AGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAA AAATACAAAAATTAGCTGGGCGTGGTGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00735.hp2 others(22): Show HG00438.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02698.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18981.hp2 NA19085.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0003 a0002c0022 a0008c0023 others(1): Show a0001c0003 a0002c0022 a0008c0023 a0013c0015	a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 others(12): Show a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0109 a0001c0003t0110 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0002c0022t0008 a0008c0023t0112 a0013c0015t0040	a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 others(22): Show a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0003t0115g0201 a0002c0022t0008g0162 a0008c0023t0112g0147 a0013c0015t0040g0005	25	316	0.0791	-133	c.855 others(17): Show c.855+1399_855+1531del	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774376	TGTATTCT others(126): Show TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0156 a0001c0001t0007g0156	1	420	0.0024	-133	c.364 others(15): Show c.364-475_364-343del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIRAS1_chr19_2709567_2726372	2714249	TCCACCCT others(126): Show TCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCAACC CTTCACCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCAT CCCATCCCTCACTTCCTACACCCATCACCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03130.hp2 NA18522.hp2 HG01192.hp1 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0024 a0001c0001t0018g0102 a0001c0001t0012g0024 a0001c0001t0018g0102	3	412	0.0073	-133	c.28 others(11): Show c.2828_*2960del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		317		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1237806	CTCTCACA others(126): Show CTCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCGCCATGTCTAG TTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGTGCCGTATCTAG TTCTCTCTCACGCATAGCGTCATGTCTAGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-133	c.74- others(17): Show c.74-21003_74-20871del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	871523	GGTAGAGA others(126): Show GGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGACGC GAGCCACCGCGCCGGCTAACTTTTTGTATTTTTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	306	0.0033	-133	c.539 others(19): Show c.539-22349_539-22217del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	871563	GATCTCCT others(126): Show GATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGA TTACAGACGCGAGCCACCGCGCCGGCTAACTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0078 a0002c0002t0019g0078	1	306	0.0033	-133	c.539 others(19): Show c.539-22330_539-22198del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	871582	CCGCCCGC others(126): Show CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGACGCGAGCCACCG CGCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCAATCTCCTGACCTCGTGATT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG03041.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0229 a0001c0001t0001g0263 a0001c0001t0001g0088 a0001c0001t0001g0229 a0001c0001t0001g0263	3	306	0.0098	-133	c.539 others(19): Show c.539-22319_539-22187del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar

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