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
CCL17_chr16_57399767_57421063	57403423	ATAATATA others(189): Show ATAATATATATTATAATATATATATTATATTATAATATATATTATATTAT ATATATTATATAATAATATATATATTATAATATATATATTATATTATATA TATGTTATATATATTATAAATATATATTTTATATATATATAATATATATT TATAATATATATAATATATATTTATAATATATATAATATATATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00673.hp2 others(26): Show HG00099.hp1 HG00609.hp1 HG00673.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01952.hp2 HG02135.hp1 HG02523.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp2 NA18940.hp1 NA18947.hp2 NA18954.hp2 NA18961.hp2 NA18977.hp1 NA18982.hp2 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0004t0001g0009	29	386	0.0751	-196	c.-14 others(11): Show c.-1472_-1277del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1343		chr16	TogoVar
CDRT4_chr17_15431015_15472621	15465100	CACACACC others(189): Show CACACACCAACACACAGACACACCAACACACAGATACAAACACAGACACA CCAACACACACACACCAACACACAGACACACAACACACATACCAACACAG ACACACCAACAGACACACACCAACACACAGACACACACAACAGACACACA CCAACACACACAACACACACACCAACACAAACACACACCAACACCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(145): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0025 a0003c0003t0012	a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0155 others(104): Show a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0003g0063 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0267 a0002c0002t0005g0038 a0002c0002t0005g0190 a0002c0002t0005g0193 a0002c0002t0009g0073 a0002c0002t0009g0077 a0002c0002t0014g0191 a0002c0002t0020g0196 a0002c0002t0021g0062 a0002c0002t0022g0070 a0002c0002t0023g0207 a0002c0002t0025g0270 a0003c0003t0012g0181	148	428	0.3458	-196	c.-13 others(19): Show c.-130+2164_-130+2359del	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	1/3			chr17	TogoVar
CENPE_chr4_103100811_103203343	103112729	TATATATA others(189): Show TATATATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATA AGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAG TATATAAGTGTATATATATACTTATAAGTATATAAGTGTACATATATACT TATAAGTATATAAGTGTACATATATACTTATAAGTATATAAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG02647.hp2 others(2): Show HG00735.hp1 HG01175.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0010 a0001c0007 a0007c0010	a0001c0007t0001 a0007c0010t0001 a0001c0007t0001 a0007c0010t0001	a0001c0007t0001g0100 a0007c0010t0001g0012 a0007c0010t0001g0301 others(1): Show a0001c0007t0001g0100 a0007c0010t0001g0012 a0007c0010t0001g0301 a0007c0010t0001g0302	5	318	0.0157	-196	c.754 others(19): Show c.7540+1530_7541-1719del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80535327	TAGAACTG others(189): Show TAGAACTGAAGAGCTTCAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(55): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01168.hp2 HG01243.hp1 HG02040.hp1 HG02071.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19060.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0005 a0002c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0002 a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0003c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(55): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0003t0001g0038 a0001c0003t0002g0084 a0001c0003t0002g0090 a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0009t0002g0015 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0067 a0002c0005t0001g0058 a0002c0005t0001g0072 a0002c0005t0001g0076 a0002c0005t0001g0077 a0002c0007t0001g0047 a0003c0008t0001g0085	58	96	0.6042	-196	c.243 others(19): Show c.243-47748_243-47553del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHD5_chr1_6096787_6185321	6160064	ACAGCCAG others(189): Show ACAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGGGAAG GGCCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAA GAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAGCCCTAGCCAG GGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGAGAAGGAGAGCCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(53): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01106.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0023 a0001c0027 a0001c0032 a0001c0038 a0001c0039 a0001c0041 a0001c0043 a0001c0045 a0001c0049 a0002c0017 a0002c0025 a0002c0040	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(29): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0049 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070 a0001c0001t0083 a0001c0003t0008 a0001c0003t0045 a0001c0004t0071 a0001c0004t0082 a0001c0008t0004 a0001c0008t0012 a0001c0011t0008 a0001c0023t0002 a0001c0023t0073 a0001c0027t0066 a0001c0032t0005 a0001c0038t0034 a0001c0039t0057 a0001c0041t0013 a0001c0043t0052 a0001c0045t0005 a0001c0049t0048 a0002c0017t0001 a0002c0025t0001 a0002c0040t0001	a0001c0001t0004g0078 a0001c0001t0004g0095 a0001c0001t0004g0112 others(53): Show a0001c0001t0004g0078 a0001c0001t0004g0095 a0001c0001t0004g0112 a0001c0001t0004g0135 a0001c0001t0004g0147 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0181 a0001c0001t0004g0239 a0001c0001t0004g0283 a0001c0001t0005g0113 a0001c0001t0005g0137 a0001c0001t0005g0179 a0001c0001t0007g0080 a0001c0001t0007g0111 a0001c0001t0007g0190 a0001c0001t0007g0195 a0001c0001t0007g0204 a0001c0001t0007g0220 a0001c0001t0007g0222 a0001c0001t0007g0238 a0001c0001t0007g0264 a0001c0001t0007g0272 a0001c0001t0007g0275 a0001c0001t0008g0093 a0001c0001t0027g0133 a0001c0001t0028g0057 a0001c0001t0037g0007 a0001c0001t0049g0035 a0001c0001t0063g0171 a0001c0001t0069g0277 a0001c0001t0070g0194 a0001c0001t0083g0308 a0001c0003t0008g0274 a0001c0003t0045g0205 a0001c0004t0071g0067 a0001c0004t0082g0311 a0001c0008t0004g0250 a0001c0008t0012g0223 a0001c0008t0012g0224 a0001c0008t0012g0297 a0001c0011t0008g0209 a0001c0023t0002g0261 a0001c0023t0073g0315 a0001c0027t0066g0206 a0001c0032t0005g0170 a0001c0038t0034g0006 a0001c0039t0057g0242 a0001c0041t0013g0251 a0001c0043t0052g0271 a0001c0045t0005g0273 a0001c0049t0048g0094 a0002c0017t0001g0249 a0002c0025t0001g0052 a0002c0040t0001g0033	56	317	0.1767	-196	c.208 others(15): Show c.208-745_208-550del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CLEC3A_chr16_78017548_78037101	78034351	GCTCCCCA others(189): Show GCTCCCCAAACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTT CTCCCCAAACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTTC TCCCCAAACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTTCT CCCCAGACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(91): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02300.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18978.hp1 NA18985.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0002t0002	a0001c0001t0001g0088 a0001c0001t0005g0015 a0001c0001t0005g0016 others(19): Show a0001c0001t0001g0088 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0074 a0001c0001t0008g0030 a0001c0001t0008g0044 a0001c0001t0014g0108 a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0034 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0095	94	441	0.2132	-196	c.35 others(11): Show c.3511_*3706del	CLEC3A	ENSG00000166509.12	transcript	ENST00000299642.10	protein_coding		2251		chr16	TogoVar
CNIH4_chr1_224351879_224384452	224378516	ACTGAGGC others(189): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02922.hp1 others(3): Show HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0080 a0001c0001t0009g0014 a0001c0001t0009g0080	6	21	0.2857	-196	c.28 others(11): Show c.2898_*3093del	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	2898	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR3_chr6_154382515_154515685	154486454	GCCCAGCT others(189): Show GCCCAGCTAATTTTTATTTTATTTTATTTTATTTTATTTTATTTTATCTT ATTTTTTGAGATGGAGTCTTGCACTGTCACCTAGGCTGGGGTGCAATGGC ACGATCTTGGCTCACTACAACCTCCCCCTCCTGGGTTCCAGCAATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02451.hp1 others(14): Show HG01243.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0130 a0001c0001t0192 a0001c0001t0195 others(13): Show a0001c0001t0130 a0001c0001t0192 a0001c0001t0195 a0001c0002t0005 a0001c0002t0020 a0001c0002t0025 a0001c0002t0062 a0001c0002t0068 a0001c0002t0072 a0001c0002t0125 a0001c0002t0128 a0001c0002t0160 a0001c0002t0197 a0001c0003t0163 a0001c0004t0173 a0001c0005t0117	a0001c0001t0130g0231 a0001c0001t0192g0342 a0001c0001t0195g0341 others(14): Show a0001c0001t0130g0231 a0001c0001t0192g0342 a0001c0001t0195g0341 a0001c0002t0005g0299 a0001c0002t0020g0235 a0001c0002t0020g0236 a0001c0002t0025g0010 a0001c0002t0062g0011 a0001c0002t0068g0012 a0001c0002t0072g0008 a0001c0002t0125g0089 a0001c0002t0128g0229 a0001c0002t0160g0301 a0001c0002t0197g0339 a0001c0003t0163g0058 a0001c0004t0173g0055 a0001c0005t0117g0298	17	340	0.0500	-196	c.52+ others(17): Show c.52+23413_52+23608del	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNOT6_chr5_180489379_180583358	180534612	GGGGGTCC others(189): Show GGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCGCT GGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTG GGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGG GGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19005.hp1 NA19080.hp1 NA18978.hp2 NA19005.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0001t0001g0314 a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0001t0001g0314	3	322	0.0093	-196	c.112 others(17): Show c.112+5271_112+5466del	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPSF2_chr14_92116969_92177145	92173371	GTATATAT others(189): Show GTATATATATACGTATATATATATATACACATATGTATATATATATATGT GTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTGAGATAG AGTCTCACTCTGTTGCCCAGGCCGGAGTGCAGTGGCACCAATCTTGGTGC ACTGCAACTCCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0238 a0001c0001t0014g0238	1	379	0.0026	-196	c.11 others(13): Show c.11628_*11823del	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1227		chr14	TogoVar
CTDP1_chr18_79674803_79759503	79745671	CGTTCTGT others(189): Show CGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCC CGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGT CCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCC CCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0198 a0001c0008t0001g0198	1	298	0.0034	-196	c.274 others(19): Show c.2748-7973_2748-7778del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F12_chr19_15668087_15702174	15673931	CCACTCAC others(189): Show CCACTCACTCACTCCTCTACCCACTCACTCATTCCTCTACCCACTCACTC ATTCCTCTACCCACTCACTCCTCTACCCACTCACTCACTCCTCTACCCAC TCACTCACTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTC CTCTACCCACTCACTCACTCCTTTCCTCACTCACTCACTCCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0135 a0003c0003t0002g0135	1	408	0.0025	-196	c.198 others(15): Show c.198+215_198+410del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCAKD_chr17_45018344_45056632	45051848	CGGGCGGG others(189): Show CGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGG AGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGA CGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCG GGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00735.hp2 others(9): Show HG00323.hp2 HG00642.hp1 HG00735.hp2 HG01361.hp2 HG02280.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp1 NA18906.hp1 NA19002.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0003 a0001c0004t0011	a0001c0001t0005g0220 a0001c0001t0006g0012 a0001c0001t0006g0225 others(7): Show a0001c0001t0005g0220 a0001c0001t0006g0012 a0001c0001t0006g0225 a0001c0001t0006g0228 a0001c0001t0006g0234 a0001c0001t0007g0238 a0001c0004t0003g0235 a0001c0004t0011g0013 a0001c0004t0011g0236 a0001c0004t0011g0237	12	398	0.0302	-196	c.-79 others(9): Show c.-798_-603del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		217		chr17	TogoVar
DIP2C_chr10_269201_694668	322190	CGCTGTTA others(189): Show CGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0088 a0001c0011t0003g0088	1	87	0.0115	-196	c.392 others(19): Show c.3924+4620_3924+4815del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1015723	GTGACCAG others(189): Show GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-196	c.73+ others(19): Show c.73+107791_73+107986del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(189): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGAT GACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGAC GGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20300.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0013 a0001c0011t0015 a0001c0003t0013 a0001c0011t0015	a0001c0003t0013g0007 a0001c0011t0015g0001 a0001c0003t0013g0007 a0001c0011t0015g0001	2	10	0.2000	-196	c.74- others(19): Show c.74-155414_74-155219del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301874	GGAAGGAA others(189): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01261.hp2 others(14): Show HG00609.hp2 HG00639.hp2 HG01261.hp2 HG02083.hp1 HG02083.hp2 HG02280.hp2 HG02572.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp2 HG03669.hp1 HG03831.hp1 NA18970.hp1 NA18997.hp2 NA19058.hp1 NA19060.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0008 a0002c0014 a0002c0015 a0002c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0003 a0002c0003t0003 a0002c0008t0002 a0002c0014t0003 a0002c0015t0003 a0002c0017t0003	a0001c0001t0001g0090 a0001c0002t0001g0123 a0001c0002t0002g0293 others(14): Show a0001c0001t0001g0090 a0001c0002t0001g0123 a0001c0002t0002g0293 a0001c0002t0002g0302 a0001c0002t0002g0309 a0001c0002t0002g0328 a0001c0002t0002g0336 a0001c0002t0002g0340 a0001c0005t0001g0040 a0001c0005t0003g0255 a0002c0003t0003g0209 a0002c0008t0002g0296 a0002c0008t0002g0338 a0002c0008t0002g0342 a0002c0014t0003g0005 a0002c0015t0003g0195 a0002c0017t0003g0096	17	394	0.0431	-196	c.987 others(15): Show c.987+742_987+937del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNASE1L1_chrX_154396236_154414254	154402438	CCCTACCC others(189): Show CCCTACCCCAACCCAGAGCCCACTTTGTCTCCACTCCTGATACTACACTA CCTGGCAGGTGGCATGAGTGCAGGGCCCCTGGCTTCCTCTCCTAATCTAG GCACAAGCCCAACCAAAGAACAAGAGCCAAATCAAACAAGGCAGGCAGGG GTGGACTACAGTCACAGGGCAACTATAGTTGAAGCCCCCCAGCCCCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG02559.hp1 HG02723.hp1 others(2): Show HG01081.hp1 HG02559.hp1 HG02723.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0110 a0001c0001t0006g0114 others(1): Show a0001c0001t0006g0035 a0001c0001t0006g0110 a0001c0001t0006g0114 a0001c0001t0006g0132	5	277	0.0181	-196	c.73 others(8): Show c.73_*268del	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	8/8	73		chrX	TogoVar
DOC2B_chr17_137789_186650	171663	CAGCACCA others(189): Show CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGA GCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCA GGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	330	0.0030	-196	c.453 others(15): Show c.453+678_453+873del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
ERMARD_chr6_169746622_169786600	169782137	ACCCTTTC others(189): Show ACCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTA CCCTCTCCGAGTGGTCGGTCTGAGTCTCAGTCTGCAGTCTTCTGATGTAC CCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTACC CTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGATTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	378	0.0026	-196	c.62 others(9): Show c.625_*820del	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		538		chr6	TogoVar
ERMARD_chr6_169746622_169786600	169782644	GGTGTGAG others(189): Show GGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTACCCTTTCCGAGTGGTCG GTGTGAGTCTCACCCTGCAGTCTTCTGGTTTACCCTTTCCGAGTGGTCGG TGTGAGTCTCAGTCTGCAGTCTTCTGATGTACCCTTTCCGAGTGGTCGGT GTGAGTCTCAGTCTGCAGTCTTCTGATGTACCCTTGCTGAGTGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03209.hp1 others(1): Show HG02572.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0045 a0002c0003t0001g0035 a0002c0003t0001g0045	4	378	0.0106	-196	c.11 others(11): Show c.1132_*1327del	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		1045		chr6	TogoVar
FAM47E_chr4_76246721_76288783	76262943	TTAAATAG others(189): Show TTAAATAGAAACAGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTC CTGGCCTCATGCCATCTTCCTGCGTAAGCTTCCCAAAGCACTGAGATTAT ATGCCTTAGCCACTGTGCCTGGCCCCATTGTGCTTTTTGATTGATTTTGT CAAAAGGCTTAGGTTGTACATCACTGTGTTTCAGATGACTGAAATTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0097 a0005c0005t0001g0097	1	390	0.0026	-196	c.421 others(15): Show c.421-756_421-561del	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
FCHO2_chr5_72951041_73095522	73016311	TGTTTAAA others(189): Show TGTTTAAATATTAAAAAATATTTTAAATTGTTTAAATATTAAAAAAGATT TTAAATTGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATATTAAAA AAGATTTTAAATTGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATA TTAAAAAAGATTTTAAATTGTTTAAATATTAAAAAAGATTTTAAATA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19010.hp1 NA18984.hp2 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0243 a0001c0004t0003g0249 a0001c0004t0003g0243 a0001c0004t0003g0249	2	284	0.0070	-196	c.699 others(15): Show c.699+605_700-688del	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRR2_chr6_89249464_89320299	89292357	TATATATA others(189): Show TATATATATATATATATATATATCAGATATATATCGTATCTCTGATATAT ATATCAGATATATCGTATCTCTGATATATATATCAGATATATATCGTATC TCTGATATATATATCAGATATATATCGTATCTCTGATATATATATCAGAT ATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0155 a0002c0003t0002g0155	1	196	0.0051	-196	c.220 others(17): Show c.220+7206_220+7401del	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807222	TCCCCCCT others(189): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18999.hp2 NA19030.hp1 HG02135.hp2 NA18999.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0181 a0002c0002t0001g0094 a0001c0001t0001g0012 a0001c0001t0001g0181 a0002c0002t0001g0094	3	295	0.0102	-196	c.30 others(11): Show c.3057_*3252del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2936		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71680183	CCGCTCTC others(189): Show CCGCTCTCTCTTCCTCCCTCCCGCTCTCCCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTATCCCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCGCGCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	74	0.0135	-196	c.150 others(19): Show c.1500+2879_1500+3074del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG12_chr1_67696475_67838467	67710024	TTATATAT others(189): Show TTATATATATATAGTTATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATATAGTTATATATATAGTTATATATATAGTTATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp1 HG02647.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0019g0268 a0001c0001t0019g0269	2	245	0.0082	-196	c.-26 others(17): Show c.-26-2508_-26-2313del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GPC5_chr13_91393621_92872237	92347875	ATATATAT others(189): Show ATATATATTATATATATTATATATATAATATATATATAATATATATATAT TATATATACATCTTATATGTAAACCTCATGAGAAACACAAAGCAAAAATT ATTAGGACAAAAAATTGGAAAGGTCAAAGCATACCACTTCTTAAAAAAAA AAAAATCAATACATAAAGGAAGACAGCATAAGAGGCAGAAACAAAGT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0016 a0003c0003t0002g0016	1	42	0.0238	-196	c.156 others(23): Show c.1561+202887_1561+203082del	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46631389	ACTCCTGG others(189): Show ACTCCTGGGGACCGGGGATGGGTAGAACCTCACAGCCTGTGTCCTTTCGT CTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTC TCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCT CCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0183 a0001c0001t0011g0184 a0001c0001t0011g0183 a0001c0001t0011g0184	2	299	0.0067	-196	c.162 others(17): Show c.162+4461_162+4656del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(189): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0053 a0002c0011t0053	a0002c0011t0053g0060 a0002c0011t0053g0060	1	124	0.0081	-196	c.162 others(17): Show c.162+4846_162+5041del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
HACL1_chr3_15555699_15606569	15592829	CATGTGTG others(189): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01891.hp2 others(4): Show HG01106.hp2 HG01243.hp2 HG01891.hp2 HG01993.hp1 HG02132.hp2 HG02602.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0201 a0001c0001t0001g0230 a0001c0001t0001g0236	7	383	0.0183	-196	c.228 others(17): Show c.228-1345_228-1150del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(189): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0177 a0001c0002t0016g0177	1	42	0.0238	-196	c.275 others(17): Show c.2751-437_2751-242del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069191	GCACTTGC others(189): Show GCACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTGGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	240	0.0042	-196	c.275 others(17): Show c.2751-780_2751-585del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069209	GGAGTCAC others(189): Show GGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGG GAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGG AGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGA GTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0074 a0001c0015t0074	a0001c0015t0074g0030 a0001c0015t0074g0030	1	236	0.0042	-196	c.275 others(17): Show c.2751-798_2751-603del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069485	ACACTTGC others(189): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGTGAGTCACAGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGTGAGTCACAGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0003 a0001c0003t0004 a0001c0007t0003	a0001c0003t0004g0044 a0001c0007t0003g0046 a0001c0003t0004g0044 a0001c0007t0003g0046	2	237	0.0084	-196	c.275 others(18): Show c.2751-1074_2751-879del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HSPBAP1_chr3_122734999_122798831	122780135	AGCTGACC others(189): Show AGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	2	158	0.0127	-196	c.65- others(15): Show c.65-2425_65-2230del	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7			chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76699599	CTCTGTTT others(189): Show CTCTGTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTCATT TGCTTCAGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTCACTCTCACTCT CGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01934.hp1 others(9): Show HG00099.hp1 HG00733.hp2 HG01934.hp1 HG01981.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04115.hp2 NA18962.hp2 NA18982.hp2 NA18990.hp1 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0027	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0008c0011 a0027c0053	a0001c0002t0002 a0001c0003t0002 a0002c0001t0002 others(4): Show a0001c0002t0002 a0001c0003t0002 a0002c0001t0002 a0002c0001t0005 a0002c0006t0002 a0008c0011t0005 a0027c0053t0003	a0001c0002t0002g0111 a0001c0002t0002g0117 a0001c0003t0002g0082 others(9): Show a0001c0002t0002g0111 a0001c0002t0002g0117 a0001c0003t0002g0082 a0001c0003t0002g0178 a0001c0003t0002g0197 a0002c0001t0002g0137 a0002c0001t0002g0149 a0002c0001t0005g0009 a0002c0001t0005g0017 a0002c0006t0002g0087 a0008c0011t0005g0044 a0027c0053t0003g0195	12	220	0.0545	-196	c.436 others(19): Show c.4368-1426_4368-1231del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	TTCTCTCT others(189): Show TTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCTCTCTCTCTCCAT ATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCC ATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	78	0.0128	-196	c.436 others(19): Show c.4368-1338_4368-1143del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
LCN1_chr9_135516440_135531540	135527988	TAGACCTT others(189): Show TAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTCTGCCTCATGTCAC AGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTATGCCTCATGTCACA GACCTTGTGACCTCACAGGTGCGTCCTCCCCACTCTGCCTCATGTCACAG ACCTTGTGACCTCACAGGTGCGTCCTCCCCACTATGCCTCATGTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01192.hp1 others(3): Show HG00639.hp1 HG01069.hp1 HG01192.hp1 HG01192.hp2 HG01952.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	6	432	0.0139	-196	c.16 others(11): Show c.1647_*1842del	LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding		1449		chr9	TogoVar
LYRM4_chr6_5103419_5265950	5135057	GCTCCCGG others(189): Show GCTCCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGG AGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGG CTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18944.hp2 NA18946.hp1 others(1): Show HG03669.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0032 a0001c0001t0001g0138 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0138 a0001c0001t0001g0139 a0002c0002t0003g0251	4	220	0.0182	-196	c.208 others(19): Show c.208-25762_208-25567del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119275179	TGGCTCAC others(189): Show TGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCA GCCTCCTGAGTAGCTGGGATTGCAGGCATGCACCACCATACCCAGCTAAT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02602.hp2 others(4): Show HG01516.hp2 HG01517.hp1 HG02602.hp2 HG03239.hp2 HG03669.hp2 HG03831.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0031 a0001c0001t0002 a0001c0002t0001 a0001c0002t0031	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(4): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0331 a0001c0002t0031g0120	7	348	0.0201	-196	c.897 others(19): Show c.897+15308_897+15503del	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAP3K15_chrX_19355059_19520508	19452155	GAAGAGAA others(189): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0135 a0002c0002t0007g0135	1	159	0.0063	-196	c.995 others(17): Show c.995+4562_995+4757del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
NAALADL2_chr3_174854334_175815548	175698131	ATATGTGT others(189): Show ATATGTGTATATATGTATGTATACATATATATGTGTATATATGTATGTAT ACATATATATGTGTATATATGTATGTATACATATATATGTGTATATATGT ATGTATACATATATATGTGTATATATGTATGTATACATATATATGTGTAT ATATGTATGTATACATATATATGTGTATATATGTATGTGTATTTATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp2 HG03225.hp2 NA19043.hp2	a0005 a0005	a0005c0006 a0005c0011 a0005c0006 a0005c0011	a0005c0006t0001 a0005c0011t0004 a0005c0006t0001 a0005c0011t0004	a0005c0006t0001g0057 a0005c0011t0004g0029 a0005c0006t0001g0057 a0005c0011t0004g0029	2	64	0.0313	-196	c.189 others(21): Show c.1897-39155_1897-38960del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241807222	TCCCCCCT others(189): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02083.hp1 HG01358.hp1 HG02083.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0003 a0007c0012t0001 a0001c0001t0003 a0007c0012t0001	a0001c0001t0003g0011 a0007c0012t0001g0133 a0001c0001t0003g0011 a0007c0012t0001g0133	2	301	0.0066	-196	c.-20 others(11): Show c.-2055_-1860del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1970		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587064	TATACATA others(189): Show TATACATATATATACATATATATACATATATATACACATATATATACATA TATATACATATATATACATATATACACATATATATACATATATACACATA TATACACATATATATACACATATATATACACATATATATACACATATATA TATACATATATATACATATATATATACATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0267 a0004c0007t0001g0267	1	370	0.0027	-196	c.184 others(19): Show c.1844+1783_1844+1978del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
ODF2_chr9_128451006_128506292	128464665	GTTTTTGT others(189): Show GTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(338): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0005 a0001c0007 others(13): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0017 a0002c0003 a0003c0004 a0004c0006 a0005c0016 a0006c0010 a0007c0008 a0008c0013 a0009c0012 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0005t0006 a0001c0007t0001 a0001c0009t0003 a0001c0011t0002 a0001c0014t0002 a0001c0017t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0001 a0005c0016t0002 a0006c0010t0001 a0007c0008t0001 a0008c0013t0001 a0009c0012t0002 a0010c0015t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(290): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0003g0009 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0004g0010 a0001c0001t0004g0022 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0005g0017 a0001c0001t0005g0081 a0001c0001t0005g0111 a0001c0001t0007g0086 a0001c0001t0008g0160 a0001c0001t0009g0203 a0001c0005t0006g0005 a0001c0007t0001g0239 a0001c0009t0003g0174 a0001c0011t0002g0058 a0001c0014t0002g0042 a0001c0017t0001g0221 a0002c0003t0001g0026 a0002c0003t0001g0180 a0002c0003t0001g0218 a0003c0004t0001g0276 a0003c0004t0001g0278 a0003c0004t0001g0291 a0004c0006t0001g0023 a0005c0016t0002g0140 a0006c0010t0001g0033 a0007c0008t0001g0149 a0008c0013t0001g0219 a0009c0012t0002g0132 a0010c0015t0002g0092	341	344	0.9913	-196	c.498 others(17): Show c.498+3612_498+3807del	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510540	TGTATATC others(189): Show TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01981.hp1 HG02280.hp2 HG01255.hp2 HG01981.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0021 a0003c0010t0076 a0001c0002t0021 a0003c0010t0076	a0001c0002t0021g0200 a0001c0002t0021g0201 a0003c0010t0076g0098 a0001c0002t0021g0200 a0001c0002t0021g0201 a0003c0010t0076g0098	3	217	0.0138	-196	c.894 others(17): Show c.894-6918_894-6723del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCGF3_chr4_700832_775089	731554	CCCCCTCC others(189): Show CCCCCTCCCGTCGTGGGTGGGCGTGGTCCTCGGGCATAGGGCGGGGCTCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CCGCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0052 a0001c0001t0058g0052	1	356	0.0028	-196	c.-10 others(15): Show c.-10+453_-10+648del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIGN_chr18_62036164_62192056	62039763	CCATGTTT others(189): Show CCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCAT CGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCC ATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCC AGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02683.hp1 others(9): Show HG01884.hp1 HG02451.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03710.hp1 NA18942.hp1 NA18963.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0009 a0004c0007t0009 a0004c0007t0017 a0001c0001t0009 a0004c0007t0009 a0004c0007t0017	a0001c0001t0009g0333 a0004c0007t0009g0306 a0004c0007t0009g0307 others(9): Show a0001c0001t0009g0333 a0004c0007t0009g0306 a0004c0007t0009g0307 a0004c0007t0009g0309 a0004c0007t0009g0310 a0004c0007t0009g0311 a0004c0007t0009g0314 a0004c0007t0009g0315 a0004c0007t0009g0316 a0004c0007t0017g0200 a0004c0007t0017g0201 a0004c0007t0017g0204	12	339	0.0354	-196	c.58 others(11): Show c.5897_*6092del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1400		chr18	TogoVar
PLCXD1_chrX_276381_308356	297357	CCATTATT others(189): Show CCATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGC CATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA19060.hp1 HG01168.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0070 a0001c0003t0059 a0001c0001t0070 a0001c0003t0059	a0001c0001t0070g0152 a0001c0003t0059g0050 a0001c0001t0070g0152 a0001c0003t0059g0050	2	154	0.0130	-196	c.734 others(17): Show c.734-1726_734-1531del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar

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