Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	83011960	ATCCCAGC others(185): Show ATCCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCT CCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCC CAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCCCA GCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(137): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0029 a0002c0005 a0002c0009 a0002c0010 a0002c0015 a0002c0022 a0003c0030 a0006c0026 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0015 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0011t0030 a0001c0013t0012 a0001c0014t0002 a0001c0014t0018 a0001c0016t0001 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0002c0015t0003 a0002c0022t0003 a0003c0030t0011 a0006c0026t0006 a0007c0018t0005	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(131): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0134 a0001c0001t0002g0157 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0006g0183 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0009g0249 a0001c0001t0010g0184 a0001c0001t0011g0068 a0001c0001t0012g0149 a0001c0001t0017g0176 a0001c0001t0019g0182 a0001c0001t0027g0181 a0001c0001t0037g0257 a0001c0001t0039g0259 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0131 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0128 a0001c0002t0006g0129 a0001c0002t0010g0133 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0019g0116 a0001c0002t0025g0095 a0001c0003t0004g0187 a0001c0003t0005g0224 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0009g0214 a0001c0003t0009g0222 a0001c0003t0015g0223 a0001c0003t0021g0221 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0001g0019 a0001c0006t0001g0023 a0001c0006t0002g0008 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0010g0011 a0001c0006t0011g0028 a0001c0006t0018g0017 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0232 a0001c0007t0005g0242 a0001c0008t0004g0212 a0001c0008t0005g0190 a0001c0008t0005g0204 a0001c0008t0005g0210 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0008t0038g0217 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0001c0011t0030g0144 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0002g0012 a0001c0014t0018g0050 a0001c0016t0001g0009 a0001c0016t0001g0010 a0001c0029t0001g0142 a0002c0005t0003g0056 a0002c0005t0003g0174 a0002c0005t0003g0180 a0002c0005t0007g0006 a0002c0005t0007g0260 a0002c0009t0013g0118 a0002c0009t0013g0120 a0002c0009t0024g0119 a0002c0010t0007g0005 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0209 a0002c0015t0003g0045 a0002c0022t0003g0030 a0003c0030t0011g0141 a0006c0026t0006g0175 a0007c0018t0005g0199	140	154	0.9091	-192	c.363 others(17): Show c.363+2302_363+2493del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	381318	GTCCTGAC others(185): Show GTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCG CCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCC TGACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCC CGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(82): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18966.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0012 a0014 a0016 a0017 a0018 a0023 a0024 a0026	a0001c0003 a0001c0024 a0002c0002 others(22): Show a0001c0003 a0001c0024 a0002c0002 a0002c0004 a0002c0008 a0002c0035 a0002c0037 a0002c0038 a0003c0006 a0003c0039 a0004c0014 a0004c0042 a0004c0043 a0004c0044 a0007c0011 a0008c0013 a0009c0012 a0012c0040 a0014c0030 a0016c0027 a0017c0031 a0018c0029 a0023c0034 a0024c0021 a0026c0025	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(28): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0024t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 a0002c0035t0001 a0002c0037t0001 a0002c0038t0003 a0003c0006t0001 a0003c0039t0001 a0004c0014t0002 a0004c0042t0001 a0004c0043t0001 a0004c0044t0001 a0007c0011t0001 a0008c0013t0001 a0009c0012t0001 a0009c0012t0003 a0012c0040t0001 a0014c0030t0004 a0016c0027t0001 a0017c0031t0004 a0018c0029t0004 a0023c0034t0001 a0024c0021t0001 a0026c0025t0003	a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0106 others(81): Show a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0106 a0001c0003t0001g0129 a0001c0003t0001g0136 a0001c0003t0003g0018 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0050 a0001c0024t0003g0022 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0178 a0002c0002t0003g0153 a0002c0002t0006g0076 a0002c0004t0001g0001 a0002c0004t0001g0056 a0002c0004t0001g0176 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0008t0001g0089 a0002c0035t0001g0071 a0002c0037t0001g0156 a0002c0038t0003g0020 a0003c0006t0001g0065 a0003c0006t0001g0077 a0003c0006t0001g0078 a0003c0006t0001g0133 a0003c0006t0001g0154 a0003c0039t0001g0058 a0004c0014t0002g0029 a0004c0014t0002g0051 a0004c0042t0001g0031 a0004c0043t0001g0028 a0004c0044t0001g0032 a0007c0011t0001g0068 a0007c0011t0001g0150 a0007c0011t0001g0158 a0008c0013t0001g0057 a0008c0013t0001g0059 a0009c0012t0001g0103 a0009c0012t0003g0023 a0012c0040t0001g0007 a0014c0030t0004g0011 a0016c0027t0001g0015 a0017c0031t0004g0012 a0018c0029t0004g0053 a0023c0034t0001g0090 a0024c0021t0001g0096 a0026c0025t0003g0021	85	159	0.5346	-192	c.299 others(16): Show c.2997-237_2997-46del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAS3_chr17_60672851_61397831	61045903	AAATATAT others(185): Show AAATATATATTTATATATATAATATATATAAATATATATATTATATATAT AAATATATATATAATATATATATATTATATATATATTTATATATATATAA TATATATATTTATATATATATTATATATATATTTATATATATATAATATA TATATTATATATATATAATATATATATATTTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03139.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0002g0001 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0002g0001	3	70	0.0429	-192	c.202 others(19): Show c.2029+5021_2029+5212del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPIFB2_chr20_33002704_33028703	33025491	TATTCATC others(185): Show TATTCATCCATTTGTTCATCATCCATCCATCCATCCATGCATCCACCTAC TCACTACTGATCAATCCATATAACCATCCATCCATTTGTTCATCTATCCA TTCATCCACCCACCCATCAATCCATATAACCATCCATCCATTTGTCCATC ATCCATCCATCCATCTACTCACTACCCATCAATTCATATAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-192	c.21 others(11): Show c.2109_*2300del	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding		1789		chr20	TogoVar
BRSK2_chr11_1384934_1467689	1430586	CGGTCTGG others(185): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0054 a0001c0001t0043g0054	1	319	0.0031	-192	c.92- others(15): Show c.92-5427_92-5236del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431720	CGGTCTGG others(185): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01261.hp2 HG01884.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0018 a0002c0008t0005 a0001c0001t0018 a0002c0008t0005	a0001c0001t0018g0140 a0002c0008t0005g0278 a0001c0001t0018g0140 a0002c0008t0005g0278	2	338	0.0059	-192	c.92- others(15): Show c.92-4293_92-4102del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1080649	ACCCCCAC others(185): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02559.hp2 HG00140.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0073 a0001c0002t0002g0269 a0001c0001t0005g0073 a0001c0002t0002g0269	2	164	0.0122	-192	c.20 others(11): Show c.2052_*2243del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C2CD4C_chr19_400445_414147	404839	GACGGGGT others(185): Show GACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCG AGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGG TGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	274	0.0036	-192	c.20 others(11): Show c.2065_*2256del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		605		chr19	TogoVar
CABLES1_chr18_23130485_23265470	23218348	CCTCCCGC others(185): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01975.hp1 others(6): Show HG00642.hp1 HG01106.hp1 HG01975.hp1 HG02572.hp2 HG02683.hp2 HG03041.hp1 HG03041.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0028 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009	a0001c0001t0003g0183 a0001c0001t0008g0196 a0001c0001t0009g0006 others(6): Show a0001c0001t0003g0183 a0001c0001t0008g0196 a0001c0001t0009g0006 a0001c0001t0028g0165 a0002c0002t0001g0108 a0002c0002t0002g0107 a0002c0002t0003g0100 a0002c0002t0003g0174 a0002c0002t0009g0131	9	261	0.0345	-192	c.108 others(19): Show c.1088+4318_1088+4509del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(185): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02647.hp1 HG02717.hp1 others(5): Show HG01934.hp2 HG02647.hp1 HG02717.hp1 HG03209.hp1 HG03831.hp1 NA19009.hp1 NA19009.hp2 NA19055.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0002 a0003c0014 others(1): Show a0001c0001 a0001c0002 a0003c0014 a0014c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0054 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0054 a0001c0002t0001 a0001c0002t0004 a0003c0014t0039 a0014c0021t0001	a0001c0001t0001g0114 a0001c0001t0001g0235 a0001c0001t0004g0155 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0235 a0001c0001t0004g0155 a0001c0001t0054g0188 a0001c0002t0001g0065 a0001c0002t0004g0069 a0003c0014t0039g0162 a0014c0021t0001g0191	8	114	0.0702	-192	c.-77 others(19): Show c.-77+16165_-77+16356del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCNF_chr16_2424447_2463854	2442466	TATTATAT others(185): Show TATTATATATAATATATAATATTATATAATATAATATTATTATATATAAT ATATAATATTATATAATATAATATTATTATATATAATATATAATATTATA TAATATAATATTATTATATATAATATATAATATTATATAATATAATATTA TATATAATATATAATATTATATAATATAATATTATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02572.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0202	4	274	0.0146	-192	c.778 others(16): Show c.778-1180_778-989del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1339266	TGCCCTAA others(185): Show TGCCCTAACCTGTGAACAGATGGCCACACAGACTGGCAAACTGTGCCCGG GACAGCAGGGTCAGCGCCCTAACCTGTGAACAGATGGCCACGCACATGGA AAAACCGCACCCGGACAGCAGGGTCAGCACCCTAACCTGTGAAGAGAACG GCCACACAGACGGGCAAACTGTGCCCGGGACAGCAGGGTCAGC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18984.hp1 NA18998.hp1 NA18951.hp1 NA18984.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0001g0177	3	365	0.0082	-192	c.454 others(15): Show c.454-453_454-262del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	3/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1339583	GGCACCCT others(185): Show GGCACCCTAACCTGTGAAGAGAACGGCCACACAGACGGGCAAACTGTGCT CGGGACAGCAGGGTCAGCGCCCTAACCTGTGAACAGATGGCCACACAGAT GGGCAAACTGTGCCCGGGACAGCAGAGTCAGCGCCCTAACCTGTGAACAG ATGGCCACGCACATGGAAAAACCGCGCCCGGACAGCAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0167 a0005c0007t0001g0167	1	368	0.0027	-192	c.454 others(15): Show c.454-770_454-579del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	3/16			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134849525	GATCACAC others(185): Show GATCACACCTCCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGA TCAGACCCCCCAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATC ACACCTCCCGGGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCAC ACCTCCCAGTGAGCGTGGGATCACACCTCCCAGGAAGCATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03486.hp1 HG04204.hp1 others(3): Show HG02735.hp2 HG03486.hp1 HG04204.hp1 HG06807.hp1 NA18994.hp1 NA19087.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0013c0055	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0002t0006 a0001c0004t0002 a0013c0055t0007	a0001c0001t0001g0147 a0001c0001t0006g0129 a0001c0001t0008g0260 others(3): Show a0001c0001t0001g0147 a0001c0001t0006g0129 a0001c0001t0008g0260 a0001c0002t0006g0250 a0001c0004t0002g0046 a0013c0055t0007g0257	6	266	0.0226	-192	c.72 others(11): Show c.7223_*7414del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4683		chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587765	CACCCACA others(185): Show CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0136 a0001c0002t0004g0136	1	322	0.0031	-192	c.927 others(15): Show c.927+673_928-709del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	CCGTGTCA others(185): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	272	0.0037	-192	c.928 others(15): Show c.928-670_928-479del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTAC1_chr10_97860000_98035621	97900829	TGTAGCCC others(185): Show TGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGG TAGTGATTGGAGCCCGTAGCCCCTTTCTGTGGTAGTGATTGGACCCTGTA GCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTTCCTGGTAGT GATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02071.hp1 others(18): Show HG01884.hp2 HG01891.hp2 HG02071.hp1 HG02109.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02896.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0002g0036 a0001c0001t0002g0079 a0001c0001t0003g0161 a0001c0002t0001g0021 a0001c0002t0002g0020 a0001c0013t0001g0005	21	169	0.1243	-192	c.113 others(17): Show c.1133+482_1133+673del	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
DGKB_chr7_14140049_14907751	14211339	TTTTACTC others(185): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	113	0.0088	-192	c.212 others(21): Show c.2123-33380_2123-33189del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211790	TATTTACT others(185): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT TTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	130	0.0077	-192	c.212 others(21): Show c.2123-33831_2123-33640del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212238	TTTTACTC others(185): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA TTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0019 a0001c0015t0032g0019	1	109	0.0092	-192	c.212 others(21): Show c.2123-34279_2123-34088del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	608188	CACACAGC others(185): Show CACACAGCCCCAACACACACACAGCCCCCCCACACACACCCCCACAGCCC CCCCCACACACACCCCCACAGCCCCCCACACACAGCCCCTACACACACAC ACACACACAGCCCCTACACACACACACACACACACAGCCCCTACACACAC ACAGCCCCCCCACACACCCCCCCACAGCCCCCCCCACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	77	0.0130	-192	c.85+ others(17): Show c.85+81114_85+81305del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIXDC1_chr11_111932343_112027653	112027292	ATCCCAGA others(185): Show ATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGGCGCTCCTCACTTCCTAGATGGGATGGCAGCCGGG CAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGTGGGGCTCCT CACGTCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	276	0.0036	-192	c.82 others(11): Show c.8257_*8448del	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding		4640		chr11	TogoVar
DLAT_chr11_112020408_112069404	112027292	ATCCCAGA others(185): Show ATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGGCGCTCCTCACTTCCTAGATGGGATGGCAGCCGGG CAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGTGGGGCTCCT CACGTCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	334	0.0030	-192	c.381 others(17): Show c.381+1006_382-1019del	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLGAP2_chr8_732628_1713476	1017197	CGCCTCCA others(185): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	37	0.0270	-192	c.73+ others(19): Show c.73+109263_73+109454del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301878	GGAAGGAA others(185): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG02559.hp1 others(2): Show HG00438.hp2 HG00673.hp2 HG02559.hp1 NA18747.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0007 a0002c0006 others(2): Show a0001c0002 a0001c0007 a0002c0006 a0003c0019 a0007c0016	a0001c0002t0002 a0001c0007t0002 a0002c0006t0003 others(2): Show a0001c0002t0002 a0001c0007t0002 a0002c0006t0003 a0003c0019t0003 a0007c0016t0003	a0001c0002t0002g0318 a0001c0007t0002g0334 a0002c0006t0003g0238 others(2): Show a0001c0002t0002g0318 a0001c0007t0002g0334 a0002c0006t0003g0238 a0003c0019t0003g0253 a0007c0016t0003g0231	5	395	0.0127	-192	c.987 others(15): Show c.987+742_987+933del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157369892	CAACATTA others(185): Show CAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGAC CCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTAACATTATTATT AAACAGGTCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01261.hp2 HG01069.hp1 HG01081.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0103 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0103	3	346	0.0087	-192	c.346 others(17): Show c.346+2453_346+2644del	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOC2B_chr17_137789_186650	166891	GTTCTTGA others(185): Show GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	328	0.0030	-192	c.454 others(17): Show c.454-2879_454-2688del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	168029	CATGGTCT others(185): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0037 a0001c0002t0029g0037	1	334	0.0030	-192	c.454 others(17): Show c.454-4017_454-3826del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK5_chr8_25179689_25420711	25216544	TATGTATA others(185): Show TATGTATACAATATGTGCATACAATATGTATAGATGTATACAATATGTGC ATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATAGATG TATACAATATGTGTATACAATATGTATAGATGTATACAATATGTGTATAC AATATGTATAGATGTATACAATATGTGTATACAATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0030 a0005c0038t0030	a0005c0038t0030g0015 a0005c0038t0030g0015	1	161	0.0062	-192	c.44- others(17): Show c.44-27113_44-26922del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3B_chr7_2349827_2385745	2377484	ACGAGCGC others(185): Show ACGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGG AGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03516.hp1 HG02809.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0287 a0001c0001t0001g0288	2	372	0.0054	-192	c.215 others(17): Show c.2154+434_2154+625del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377531	AGGAGGAA others(185): Show AGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	264	0.0038	-192	c.215 others(17): Show c.2154+473_2154+664del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377548	ACGAGCGC others(185): Show ACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02602.hp1 HG03239.hp2 others(4): Show HG00733.hp2 HG02602.hp1 HG03239.hp2 HG04115.hp1 HG04184.hp1 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0153 a0001c0003t0001g0171 others(3): Show a0001c0003t0001g0006 a0001c0003t0001g0153 a0001c0003t0001g0171 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0188	7	110	0.0636	-192	c.215 others(17): Show c.2154+617_2155-806del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ENOSF1_chr18_665318_717630	666915	TGATGGAG others(185): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00642.hp2 HG00738.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0272 a0002c0005t0001g0100 a0001c0003t0001g0272 a0002c0005t0001g0100	2	375	0.0053	-192	c.71 others(11): Show c.7198_*7389del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3402		chr18	TogoVar
ERC1_chr12_986223_1500931	1086094	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0153 a0001c0001t0021g0153	1	156	0.0064	-192	c.108 others(19): Show c.1086+2524_1086+2715del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087072	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00738.hp1 others(6): Show HG00323.hp1 HG00408.hp2 HG00738.hp1 HG01081.hp2 HG02965.hp2 HG04199.hp1 NA18949.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0064 a0001c0001t0089 a0001c0003t0002	a0001c0001t0001g0010 a0001c0001t0003g0020 a0001c0001t0003g0029 others(6): Show a0001c0001t0001g0010 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0025g0026 a0001c0001t0064g0008 a0001c0001t0089g0002 a0001c0003t0002g0004	9	158	0.0570	-192	c.108 others(19): Show c.1086+3502_1086+3693del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087527	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00639.hp2 others(26): Show HG00323.hp1 HG00408.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18949.hp2 NA19043.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0001t0060 a0001c0001t0064 a0001c0001t0071 a0001c0001t0076 a0001c0001t0089 a0001c0003t0002 a0002c0002t0011 a0002c0002t0022 a0002c0002t0024 a0002c0002t0040 a0002c0002t0046 a0002c0002t0054 a0005c0010t0059	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0020 others(26): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0009g0078 a0001c0001t0015g0023 a0001c0001t0015g0030 a0001c0001t0018g0080 a0001c0001t0025g0026 a0001c0001t0031g0119 a0001c0001t0060g0130 a0001c0001t0064g0008 a0001c0001t0071g0014 a0001c0001t0076g0033 a0001c0001t0089g0002 a0001c0003t0002g0004 a0002c0002t0011g0122 a0002c0002t0011g0125 a0002c0002t0011g0128 a0002c0002t0022g0075 a0002c0002t0022g0139 a0002c0002t0024g0148 a0002c0002t0040g0070 a0002c0002t0046g0069 a0002c0002t0054g0076 a0005c0010t0059g0126	29	134	0.2164	-192	c.108 others(19): Show c.1086+3957_1086+4148del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088050	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01243.hp2 others(3): Show HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01358.hp1 NA18612.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0069 a0001c0001t0076	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0009 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0009 a0001c0001t0031g0119 a0001c0001t0069g0006 a0001c0001t0076g0033	6	151	0.0397	-192	c.108 others(19): Show c.1086+4480_1086+4671del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088115	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG01433.hp2 others(3): Show HG00544.hp2 HG01192.hp1 HG01433.hp2 HG01496.hp2 HG02602.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0061 a0001c0001t0001 a0001c0001t0004 a0002c0002t0061	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0004g0011 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0004g0011 a0001c0001t0004g0018 a0001c0001t0004g0047 a0002c0002t0061g0025	6	142	0.0423	-192	c.108 others(19): Show c.1086+4545_1086+4736del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088180	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03669.hp2 HG03927.hp1 HG02735.hp2 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0005 a0001c0001t0015g0023 a0001c0001t0015g0030 a0001c0001t0004g0005 a0001c0001t0015g0023 a0001c0001t0015g0030	3	160	0.0188	-192	c.108 others(19): Show c.1086+4610_1086+4801del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088245	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0050 a0001c0001t0014g0050	1	159	0.0063	-192	c.108 others(19): Show c.1086+4675_1086+4866del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088558	ATTATTAT others(185): Show ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0013 a0006c0008t0017 a0001c0001t0013 a0006c0008t0017	a0001c0001t0013g0041 a0006c0008t0017g0140 a0001c0001t0013g0041 a0006c0008t0017g0140	2	152	0.0132	-192	c.108 others(19): Show c.1086+4990_1086+5181del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090588	GTTGTTGT others(185): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02965.hp2 NA20905.hp1 HG00323.hp1 HG02965.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0001t0064 a0001c0003t0002 a0001c0001t0025 a0001c0001t0064 a0001c0003t0002	a0001c0001t0025g0026 a0001c0001t0064g0008 a0001c0003t0002g0021 a0001c0001t0025g0026 a0001c0001t0064g0008 a0001c0003t0002g0021	3	160	0.0188	-192	c.108 others(19): Show c.1086+7018_1086+7209del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675595	CGGCGAGG others(185): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03139.hp2 HG01934.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0002g0294 a0001c0001t0001g0078 a0001c0001t0002g0294	2	353	0.0057	-192	c.305 others(17): Show c.305-1740_305-1549del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM161A_chr2_61819848_61859060	61848888	ATATATAT others(185): Show ATATATATTTATATATATATTTATATATTTATATATATTTATATATATAT ATTTATATATATTTATATATATATTTATATATATATATATTTATATATTT ATATATATTTATATATATATTTATATATTTATATATATTTATATATATAT TTATATATTTATATATATTTATATATATATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	397	0.0025	-192	c.183 others(17): Show c.183+4779_183+4970del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FARS2_chr6_5256513_5776583	5581893	ACGGTTAA others(185): Show ACGGTTAATTCCTGATGCGCTTCTATAAATGGTCACAGTAACATACTTCC GGTTAATTCCTGATGTGCTTTTATAAATGGTCACAGTAAGATACTTCCGG TTAATTCCTGATGCGCTTTTCTAAGTGGTCACAGTAACATACTTCCGGTT AATTCCTGATGCGCTTCTATAAATGGTCACAGTAACATACTTC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20300.hp1 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0028 a0001c0001t0001g0073	2	168	0.0119	-192	c.106 others(21): Show c.1066-31030_1066-30839del	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FGD6_chr12_95071749_95222467	95148769	ACATATAT others(185): Show ACATATATTATATATTATATAATACATAGCATATGTTATATTACATATAT TATATATATTATATAATATATAGCATATATTATATATATTATATAAGATA TAGCATATATTATATATATTATATAAGATATAGCATATATTATATATATT ATATAAGATATAGCATATATTATATATATTATATAAGATATAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	365	0.0027	-192	c.268 others(19): Show c.2685+3850_2685+4041del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FLT4_chr5_180596506_180654600	180615373	ATCCACTT others(185): Show ATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCA CTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCG AAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCT CCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01952.hp2 others(2): Show HG01069.hp1 HG01071.hp2 HG01952.hp2 HG01978.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0128 a0001c0001t0002g0192 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0128 a0001c0001t0002g0192 a0001c0001t0002g0205	5	388	0.0129	-192	c.321 others(17): Show c.3219+802_3219+993del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOCAD_chr9_20679259_21000950	20973777	ATTTTTTC others(185): Show ATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGG CCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCAT GTTTGCTGACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGC CTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	309	0.0032	-192	c.413 others(19): Show c.4133-2572_4133-2381del	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXN3_chr14_89151177_89422233	89362421	CTCCACCA others(185): Show CTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCT CCACCACCACCACCACCACCACCACCATCTCCACCACCACCACCACCATC TCTACGACCACCACCACCACCATCTCCACCACCACCTCCACCACCACCAC CACCACCATCTCTACGACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	225	0.0044	-192	c.544 others(19): Show c.544-11805_544-11614del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132231444	TCCCTAGT others(185): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	140	0.0071	-192	c.107 others(21): Show c.1077+16274_1077+16465del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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