Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT9_chr12_132191372_132334589	132305257	ACACACCC others(153): Show ACACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGC ACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGGCAC ACCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCACAC CCTCACCCGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show HG00423.hp2 HG01070.hp1 HG01167.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19067.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0027 a0001c0034 a0001c0041 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0021t0004 a0001c0027t0001 a0001c0034t0004 a0001c0041t0015 a0004c0024t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0105 a0001c0002t0001g0135 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0004t0001g0020 a0001c0004t0001g0060 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0021t0004g0155 a0001c0027t0001g0082 a0001c0034t0004g0158 a0001c0041t0015g0178 a0004c0024t0001g0160	32	183	0.1749	-160	c.239 others(19): Show c.239-18987_239-18828del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305449	ACACAGCC others(153): Show ACACAGCCTGACCTGGGCACACCCTCACCCGGGCACACCCTCACCGGGGC ACACCCTCACCCGGGCACAGCCTCACCCGGGCACACCCTCACCCGGGCAC ACCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCGGGCACAA CCTCACCCGGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	183	0.0055	-160	c.239 others(19): Show c.239-19179_239-19020del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GCFC2_chr2_75657705_75715915	75712132	ACACCAAT others(153): Show ACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTATGAGTGCACCAATC GACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTTTATGTC TAGCTCAGGGATTGTAAAAACACCAATCGGCACTCTGTATCTAGCTCAAG GTTTGTAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(54): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18999.hp2 NA19002.hp2 NA19011.hp1 NA19057.hp1 NA19078.hp2 NA19090.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0017 a0002c0002t0020 a0002c0002t0022	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0032 others(39): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0003g0131 a0002c0002t0014g0138 a0002c0002t0014g0143 a0002c0002t0017g0137 a0002c0002t0020g0156 a0002c0002t0022g0145	57	404	0.1411	-160	c.-14 others(11): Show c.-1437_-1278del	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding		1218		chr2	TogoVar
GET4_chr7_871554_901436	889773	TAGGACGG others(153): Show TAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGCGGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(137): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0001c0013 others(1): Show a0001c0001 a0001c0012 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0041 a0001c0012t0002 a0001c0013t0032 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0293 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0004g0028 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0008g0182 a0001c0001t0008g0188 a0001c0001t0009g0002 a0001c0001t0009g0178 a0001c0001t0010g0191 a0001c0001t0012g0180 a0001c0001t0012g0186 a0001c0001t0013g0189 a0001c0001t0013g0194 a0001c0001t0016g0002 a0001c0001t0022g0225 a0001c0001t0024g0187 a0001c0001t0029g0192 a0001c0001t0031g0001 a0001c0001t0033g0091 a0001c0001t0039g0004 a0001c0001t0041g0001 a0001c0012t0002g0014 a0001c0013t0032g0014 a0002c0007t0001g0015	140	384	0.3646	-160	c.467 others(16): Show c.467-1145_467-986del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890239	CGAGCGGG others(153): Show CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01433.hp2 others(2): Show HG01106.hp1 HG01175.hp2 HG01433.hp2 HG01517.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0019 a0001c0001t0001g0215 a0001c0001t0001g0229	5	384	0.0130	-160	c.467 others(15): Show c.467-669_467-510del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLB1L3_chr11_134271379_134324564	134308203	TACCACCA others(153): Show TACCACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACCAC CACCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCA CCACTACCACC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02630.hp1 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0004 a0003c0007t0001 a0001c0001t0004 a0003c0007t0001	a0001c0001t0004g0111 a0003c0007t0001g0122 a0001c0001t0004g0111 a0003c0007t0001g0122	2	422	0.0047	-160	c.961 others(17): Show c.961+1009_961+1168del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS1_chr1_53501239_53744164	53502312	AGGAAGGA others(153): Show AGGAAGGAGAGGGAGAGAAGAGAGGGATGAGGGGGATGGGGAGAGAGGAG AAGGGGGAGGGACAGGGAAAGAGGAGAGGGGGGAGGGAGAGGGAGAGAAG AGAGGGATGAGGGGGATGGGGAGAGAGGAGAAGGGGGAGGGACAGGGAAA GAGGAGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA20300.hp2 HG04228.hp2 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0002 a0009c0011t0002 a0001c0001t0002 a0009c0011t0002	a0001c0001t0002g0116 a0009c0011t0002g0135 a0001c0001t0002g0116 a0009c0011t0002g0135	2	236	0.0085	-160	c.41 others(11): Show c.4147_*4306del	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding		3926		chr1	TogoVar
GLIS1_chr1_53501239_53744164	53502316	AGGAGAGG others(153): Show AGGAGAGGGAGAGAAGAGAGGGATGAGGGGGATGGGGAGAGAGGAGAAGG GGGAGGGACAGGGAAAGAGGAGAGGGGGGAGGGAGAGGGAGAGAAGAGAG GGATGAGGGGGATGGGGAGAGAGGAGAAGGGGGAGGGACAGGGAAAGAGG AGAGGGGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(83): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02976.hp1 HG03492.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19064.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0013 a0024 a0026	a0001c0001 a0001c0005 a0002c0002 others(14): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0002c0018 a0002c0037 a0003c0003 a0003c0010 a0003c0043 a0004c0004 a0005c0009 a0005c0013 a0007c0008 a0012c0021 a0013c0019 a0024c0032 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0005t0001 a0001c0005t0004 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0018t0001 a0002c0037t0001 a0003c0003t0001 a0003c0003t0004 a0003c0010t0001 a0003c0043t0001 a0004c0004t0003 a0004c0004t0008 a0005c0009t0008 a0005c0013t0006 a0007c0008t0008 a0012c0021t0001 a0013c0019t0001 a0024c0032t0001 a0026c0030t0008	a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 others(83): Show a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0077 a0001c0001t0002g0196 a0001c0001t0017g0118 a0001c0005t0001g0056 a0001c0005t0001g0126 a0001c0005t0001g0128 a0001c0005t0001g0146 a0001c0005t0001g0164 a0001c0005t0001g0167 a0001c0005t0001g0188 a0001c0005t0001g0216 a0001c0005t0001g0218 a0001c0005t0001g0223 a0001c0005t0004g0166 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0115 a0002c0002t0001g0120 a0002c0002t0001g0169 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0002g0154 a0002c0006t0001g0064 a0002c0006t0001g0117 a0002c0006t0001g0127 a0002c0006t0001g0151 a0002c0006t0001g0161 a0002c0006t0001g0165 a0002c0006t0001g0213 a0002c0018t0001g0145 a0002c0037t0001g0069 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0122 a0003c0003t0001g0141 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0159 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0202 a0003c0003t0001g0207 a0003c0003t0001g0215 a0003c0003t0004g0203 a0003c0010t0001g0175 a0003c0010t0001g0179 a0003c0043t0001g0061 a0004c0004t0003g0052 a0004c0004t0008g0016 a0005c0009t0008g0002 a0005c0009t0008g0023 a0005c0013t0006g0011 a0007c0008t0008g0027 a0007c0008t0008g0044 a0012c0021t0001g0112 a0012c0021t0001g0173 a0013c0019t0001g0083 a0024c0032t0001g0057 a0026c0030t0008g0019	86	236	0.3644	-160	c.41 others(11): Show c.4143_*4302del	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding		3922		chr1	TogoVar
GMDS_chr6_1618806_2250605	2202056	CGTTAGCA others(153): Show CGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGCACATCCGA GATGTAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGG ATGAAGAGAGAGCACCACATGGACATCCGAGATGTAACCATCTAGGCAGT GAGGGCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	166	0.0060	-160	c.102 others(19): Show c.102+43105_102+43264del	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GOLGA3_chr12_132763914_132833869	132793078	AGACCCAC others(153): Show AGACCCACCCCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02738.hp1 NA18956.hp1 others(5): Show HG02155.hp2 HG02738.hp1 NA18956.hp1 NA18957.hp2 NA19058.hp2 NA19064.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0023 a0001c0003 a0001c0023	a0001c0003t0004 a0001c0003t0011 a0001c0023t0004 a0001c0003t0004 a0001c0003t0011 a0001c0023t0004	a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0158 others(5): Show a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0158 a0001c0003t0004g0162 a0001c0003t0004g0164 a0001c0003t0011g0147 a0001c0003t0011g0157 a0001c0023t0004g0160	8	308	0.0260	-160	c.247 others(19): Show c.2470-1945_2470-1786del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	TGACCCAC others(153): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03209.hp2 HG02486.hp2 HG02615.hp1 HG03209.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0043 a0005c0006t0044 a0005c0006t0081 a0005c0006t0043 a0005c0006t0044 a0005c0006t0081	a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0081g0308 a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0081g0308	3	308	0.0097	-160	c.247 others(19): Show c.2470-2105_2470-1946del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793577	CGCACTCG others(153): Show CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC ACACGGGATCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0174 a0002c0002t0002g0168 a0002c0002t0002g0174	2	308	0.0065	-160	c.246 others(19): Show c.2469+2115_2469+2274del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GP1BB_chr22_19718539_19729771	19726426	GCTGTGGG others(153): Show GCTGTGGGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACG CGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGAC GCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACG CGGTGAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-160	c.19 others(11): Show c.1963_*2122del	GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding		1656		chr22	TogoVar
GPC5_chr13_91393621_92872237	92297302	TACCAATC others(153): Show TACCAATCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCA GCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAATCGACACTCTGT ATCCAGCTGCTCTGGTGAGGACGTGGAGAACCTTTATGTCTAGCTCAAGG ATTGTAAATAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02896.hp1 HG02897.hp1 others(6): Show HG01261.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0039 a0001c0004t0001g0024 a0002c0002t0002g0015 a0003c0003t0001g0001 a0003c0003t0001g0010	9	42	0.2143	-160	c.156 others(23): Show c.1561+152392_1561+152551del	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92297381	GTGCACCA others(153): Show GTGCACCAATCGACACTCTGTATCCAGCTGCTCTGGTGAGGACGTGGAGA ACCTTTATGTCTAGCTCAAGGATTGTAAATACACCAATCGGCACTCTGTA TCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCA AGGTTTGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03471.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0007 a0001c0001t0001g0020	2	42	0.0476	-160	c.156 others(23): Show c.1561+152416_1561+152575del	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRP_chr18_59215158_59235771	59234292	AACATATT others(153): Show AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTATATATAT AATATAACATATTATACATACCATGGTATATATATAATATAACATATTAT ACATACCATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	3	408	0.0074	-160	c.38 others(11): Show c.3825_*3984del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3522		chr18	TogoVar
GRP_chr18_59215158_59235771	59234327	AACATATT others(153): Show AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTATATATAT AATATAACATATTATACATACCATGGTATATATATAATATAACATATTAT ACATACCATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01516.hp2 HG02083.hp1 others(8): Show HG00558.hp1 HG01516.hp2 HG02083.hp1 HG02809.hp2 HG03490.hp2 HG03492.hp2 NA18942.hp2 NA18952.hp2 NA19004.hp1 NA19066.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0134	11	408	0.0270	-160	c.38 others(11): Show c.3860_*4019del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3557		chr18	TogoVar
HACE1_chr6_104723094_104864919	104727450	TACACACA others(153): Show TACACACATATATGAATACACACACATATGTATATGAATACACACACACA TATGTATATGAATACACACACACGTATGTATATGAATACACACACACGTA TGTATATGAATACACACACACGTATGTATATGAATACACACACACGTATG TATATGAATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	346	0.0029	-160	c.20 others(11): Show c.2052_*2211del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		643		chr6	TogoVar
HDAC9_chr7_18490749_19007416	18732865	GTGTACAC others(153): Show GTGTACACACACACGTGTGCGTATGTGTACACACACACGTGTGCGTATGT GTATACACACGTGTGTATGTATGTGTATACACACGTGTATGTGTGTGTAT GTGTATATACACATGTGTATGTGTGTGTATGTGTATATACACATGTGTAT GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0019 a0001c0002t0042g0019	1	156	0.0064	-160	c.190 others(19): Show c.1909+5113_1909+5272del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(153): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 NA20129.hp2 HG02109.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0045 a0001c0001t0016 a0001c0001t0024 a0001c0001t0045	a0001c0001t0016g0183 a0001c0001t0024g0124 a0001c0001t0045g0079 a0001c0001t0016g0183 a0001c0001t0024g0124 a0001c0001t0045g0079	3	416	0.0072	-160	c.342 others(15): Show c.342-340_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174352	GCTGTGGG others(153): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00738.hp1 others(23): Show HG00597.hp2 HG00639.hp1 HG00738.hp1 HG01074.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02083.hp2 HG02451.hp1 HG02809.hp1 HG03453.hp1 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18970.hp1 NA18977.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0012 a0001c0001 a0002c0002 a0008c0012	a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 others(14): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 a0001c0001t0041 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0106 a0002c0002t0001 a0002c0002t0003 a0002c0002t0054 a0002c0002t0100 a0002c0002t0142 a0008c0012t0130	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0014g0011 others(18): Show a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0014g0011 a0001c0001t0015g0098 a0001c0001t0015g0117 a0001c0001t0015g0157 a0001c0001t0020g0010 a0001c0001t0021g0112 a0001c0001t0035g0103 a0001c0001t0041g0011 a0001c0001t0091g0011 a0001c0001t0092g0199 a0001c0001t0093g0010 a0001c0001t0106g0092 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0003g0180 a0002c0002t0054g0054 a0002c0002t0100g0057 a0002c0002t0142g0071 a0008c0012t0130g0234	26	416	0.0625	-160	c.342 others(15): Show c.342-336_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL17RA_chr22_17080000_17120693	17103953	TGGTGTGG others(153): Show TGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGC TGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGG GGAGCGTGCACAGGTGGGGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGC ACAGGTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0051 a0002c0003t0051	a0002c0003t0051g0317 a0002c0003t0051g0317	1	416	0.0024	-160	c.846 others(15): Show c.846+456_847-534del	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1RAPL2_chrX_104561199_105772829	104585226	ATGTGTAT others(153): Show ATGTGTATATATATAATATATGATATATAATATATATATAATATATTATA TATATTATATAATATATTATATATTATATATTATATAATATATATTATAT ATAATATATATTATATATTATATATATTATATATATTATATATATTATAT ATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp1 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0072 a0001c0001t0001g0074	2	141	0.0142	-160	c.-20 others(19): Show c.-20+18177_-20+18336del	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL32_chr16_3060640_3074530	3066910	CGGCCCAC others(153): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	458	0.0022	-160	c.16- others(13): Show c.16-420_16-261del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066957	CGCAGGCC others(153): Show CGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCT GCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGA GGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCA CCTAGGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01928.hp1 others(9): Show HG00738.hp1 HG01261.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02300.hp2 HG02602.hp2 HG03239.hp1 NA18951.hp2 NA18998.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0060 a0001c0001t0001g0099 a0001c0001t0001g0233 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0099 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0001g0406 a0001c0001t0001g0426 a0001c0001t0002g0235 a0003c0005t0001g0412	12	458	0.0262	-160	c.16- others(13): Show c.16-417_16-258del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066960	AGGCCCTG others(153): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(31): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01361.hp2 HG02155.hp2 HG02818.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG04199.hp2 HG06807.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp1 NA18974.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp2 NA19011.hp2 NA19068.hp1 NA19077.hp1 NA19083.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 others(30): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0254 a0001c0001t0001g0302 a0001c0001t0001g0317 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0372 a0001c0001t0001g0384 a0001c0001t0001g0407 a0001c0001t0001g0408 a0001c0001t0001g0411 a0001c0001t0004g0424 a0001c0004t0001g0166	34	458	0.0742	-160	c.16- others(13): Show c.16-403_16-244del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IMMT_chr2_86138936_86200462	86169644	TTACATGT others(153): Show TTACATGTGCTTTAAGACAGAAAAATAAATTGATAAATATCTATTATCTT TTTTAAACCATCAAAAAATTTAAGAATCCTGACCTACCGAGGACAGCAAA AATAATAATAATGATAAAAAAAACTTGGCCAGGTGTGGTAGCTCATGCCT GTAATCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp2 HG03209.hp2 others(3): Show HG02486.hp2 HG02897.hp2 HG03209.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 others(3): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266	6	378	0.0159	-160	c.655 others(16): Show c.655+945_655+1104del	IMMT	ENSG00000132305.22	transcript	ENST00000410111.8	protein_coding	6/14			chr2	TogoVar
ITGA2B_chr17_44367181_44394649	44369429	TCTGGTGG others(153): Show TCTGGTGGGGCCTTGGAGAACCTTCATGTCTAGCTCAGGGATTGTAAATA CACAAATCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAGTCA GCACCCTGTGTCTAGCTCAGGGTTTGTGAGTGCACCAACCGACACTCTGT ATCTAGCTGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	354	0.0028	-160	c.27 others(11): Show c.2775_*2934del	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		2751		chr17	TogoVar
ITPR1_chr3_4488348_4852506	4619606	CTCTGCCC others(153): Show CTCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTC CCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTC CTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTC CCCTCCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	176	0.0057	-160	c.164 others(17): Show c.164-8131_164-7972del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132160706	TGGGGGGG others(153): Show TGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGAT GCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTG ATGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTA TGTCTTACTGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 HG03471.hp2 HG02647.hp1 HG02965.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0042 a0001c0048 a0004c0014 a0001c0042 a0001c0048 a0004c0014	a0001c0042t0023 a0001c0048t0013 a0004c0014t0013 a0001c0042t0023 a0001c0048t0013 a0004c0014t0013	a0001c0042t0023g0126 a0001c0048t0013g0098 a0004c0014t0013g0147 a0001c0042t0023g0126 a0001c0048t0013g0098 a0004c0014t0013g0147	3	158	0.0190	-160	c.222 others(19): Show c.2221-2496_2221-2337del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNJ5_chr11_128886356_128926163	128916038	ATGGATGG others(153): Show ATGGATGGATGGCTATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCT GGATGGATAGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGAT GGATGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp2 others(54): Show HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG01081.hp2 HG01106.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02698.hp2 HG02738.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19006.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(32): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0030 a0001c0001t0041 a0001c0001t0054 a0001c0001t0056 a0001c0001t0060 a0001c0001t0065 a0001c0001t0096 a0001c0001t0102 a0001c0001t0111 a0001c0001t0120 a0001c0001t0122 a0001c0001t0124 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0146 a0001c0001t0157 a0001c0001t0176 a0001c0001t0179 a0001c0001t0180 a0001c0001t0189 a0001c0001t0195 a0001c0001t0219 a0001c0001t0220 a0001c0001t0223 a0001c0001t0224 a0001c0001t0225 a0001c0001t0240 a0001c0001t0255 a0001c0011t0009	a0001c0001t0002g0006 a0001c0001t0002g0115 a0001c0001t0002g0122 others(51): Show a0001c0001t0002g0006 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0175 a0001c0001t0009g0053 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0009g0309 a0001c0001t0013g0052 a0001c0001t0013g0256 a0001c0001t0013g0261 a0001c0001t0013g0264 a0001c0001t0023g0039 a0001c0001t0023g0139 a0001c0001t0023g0260 a0001c0001t0030g0022 a0001c0001t0030g0226 a0001c0001t0030g0227 a0001c0001t0041g0041 a0001c0001t0041g0135 a0001c0001t0054g0017 a0001c0001t0054g0042 a0001c0001t0056g0119 a0001c0001t0056g0257 a0001c0001t0060g0113 a0001c0001t0060g0252 a0001c0001t0065g0023 a0001c0001t0065g0228 a0001c0001t0096g0041 a0001c0001t0102g0052 a0001c0001t0111g0263 a0001c0001t0120g0006 a0001c0001t0122g0133 a0001c0001t0124g0039 a0001c0001t0130g0017 a0001c0001t0131g0255 a0001c0001t0132g0030 a0001c0001t0133g0030 a0001c0001t0146g0134 a0001c0001t0157g0124 a0001c0001t0176g0017 a0001c0001t0179g0042 a0001c0001t0180g0023 a0001c0001t0189g0120 a0001c0001t0195g0053 a0001c0001t0219g0023 a0001c0001t0220g0223 a0001c0001t0223g0022 a0001c0001t0224g0220 a0001c0001t0225g0022 a0001c0001t0240g0098 a0001c0001t0255g0215 a0001c0011t0009g0258	57	460	0.1239	-160	c.938 others(15): Show c.938-359_938-200del	KCNJ5	ENSG00000120457.12	transcript	ENST00000529694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
KNDC1_chr10_133155219_133231412	133220338	AGAGGAGG others(153): Show AGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGTGAGGAGGGGCTCAGGCG GCCGCGCGCCCAGGTGAGGAGGTGCTCAGGCGGGCGCGCGCCCAGGAGAG GAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCG CGCGCCCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(127): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0014 a0016 a0017 a0022 a0024 a0025 a0026 a0027 a0029	a0001c0001 a0001c0004 a0001c0068 others(30): Show a0001c0001 a0001c0004 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0015 a0003c0032 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0007c0009 a0009c0013 a0011c0051 a0014c0066 a0016c0029 a0017c0057 a0022c0030 a0024c0059 a0025c0062 a0026c0042 a0027c0046 a0029c0069	a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 others(37): Show a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 a0002c0002t0002 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0022t0002 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0015t0002 a0003c0032t0010 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0007c0009t0002 a0009c0013t0002 a0011c0051t0002 a0014c0066t0002 a0016c0029t0002 a0017c0057t0002 a0022c0030t0010 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0027c0046t0002 a0029c0069t0002	a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0004t0002g0211 others(125): Show a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0004t0002g0211 a0001c0068t0002g0114 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0022t0002g0096 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0015t0002g0237 a0003c0032t0010g0308 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0007c0009t0002g0131 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0011c0051t0002g0024 a0014c0066t0002g0111 a0016c0029t0002g0150 a0017c0057t0002g0074 a0022c0030t0010g0309 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0027c0046t0002g0098 a0029c0069t0002g0170	130	332	0.3916	-160	c.501 others(17): Show c.5018+245_5018+404del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220357	GCGCGCGC others(153): Show GCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGG AGGTGCTCAGGCGGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGCCGC GCGCCCAGGTGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGG GCTCAGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0013 a0013	a0013c0060 a0013c0060	a0013c0060t0002 a0013c0060t0002	a0013c0060t0002g0086 a0013c0060t0002g0086	1	332	0.0030	-160	c.501 others(17): Show c.5018+277_5018+436del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220455	GCGCGCCC others(153): Show GCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAG GGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGC GCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGGAGGGGC TCAGGCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0296 a0001c0003t0003g0296	1	332	0.0030	-160	c.501 others(17): Show c.5018+373_5018+532del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCN15_chr9_136754634_136769518	136769339	CCCCCCCG others(153): Show CCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCACCC CATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCCATGCACTTCCCCCC CGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACACCC CCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02818.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0006 a0001c0001t0001g0005 a0001c0001t0002g0006	4	356	0.0112	-160	c.-50 others(11): Show c.-5011_-4852del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4822		chr9	TogoVar
LDB2_chr4_16496541_16903645	16810561	TAAAAGGT others(153): Show TAAAAGGTTTTCAGAGAGGTTCATGGAAGATCCAGGGGGTCTATGAACAC CCCAAACAGGAATTGAACTGGGGTTCAAATTCATGGTTATGGATCTTATT TGAAAAGTTGATGAAAACTATTAATACCGCCCTTAGAAAGACGAACAGTT ATCAAATCAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00609.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(95): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0141 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0003g0116 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0004g0038 a0001c0001t0004g0062 a0001c0001t0005g0144 a0001c0001t0006g0111 a0001c0001t0007g0110 a0001c0001t0010g0162 a0001c0003t0001g0097	98	162	0.6049	-160	c.133 others(19): Show c.133-51461_133-51302del	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDLRAD4_chr18_13213760_13657751	13499482	CGTGGATA others(153): Show CGTGGATACTGGAGAATCCTTCTTGCCACACACGTCCCGCCGTGGACACT GGAGAATCCTTCTCGCCACACACTTCCCACCGTGGACACTGGAGAATCCT TCTCGCCACACACATCCTGCCGTGGACACTGGAGAATCCTTCTACTCACA CACGTCCCGCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	178	0.0056	-160	c.181 others(19): Show c.181+61121_181+61280del	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579027	GGAGAGGG others(153): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0086 a0001c0001t0033 a0001c0001t0086	a0001c0001t0033g0275 a0001c0001t0086g0273 a0001c0001t0033g0275 a0001c0001t0086g0273	2	384	0.0052	-160	c.794 others(17): Show c.794-2386_794-2227del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMLN_chr3_197955217_198048720	198003782	CATCTATC others(153): Show CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG02109.hp2 others(9): Show HG00140.hp1 HG00738.hp2 HG02109.hp2 HG02258.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0031	a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0086 others(9): Show a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0091 a0001c0001t0010g0093 a0001c0001t0010g0097 a0001c0001t0010g0098 a0001c0001t0019g0096 a0001c0001t0031g0090	12	258	0.0465	-160	c.131 others(17): Show c.1319+664_1319+823del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC400499_chr16_11367015_11532247	11493919	GGGGGCGG others(153): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01257.hp2 others(9): Show HG00408.hp1 HG00597.hp1 HG01257.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp2 NA18956.hp1 NA18977.hp1 NA18986.hp1 NA18995.hp1 NA19065.hp1 NA19079.hp2	a0004 a0005 a0019 others(8): Show a0004 a0005 a0019 a0042 a0118 a0122 a0123 a0125 a0237 a0248 a0249	a0004c0013 a0005c0129 a0019c0088 others(8): Show a0004c0013 a0005c0129 a0019c0088 a0042c0044 a0118c0130 a0122c0131 a0123c0126 a0125c0127 a0237c0236 a0248c0048 a0249c0047	a0004c0013t0001 a0005c0129t0003 a0019c0088t0001 others(8): Show a0004c0013t0001 a0005c0129t0003 a0019c0088t0001 a0042c0044t0004 a0118c0130t0002 a0122c0131t0002 a0123c0126t0005 a0125c0127t0002 a0237c0236t0001 a0248c0048t0001 a0249c0047t0001	a0004c0013t0001g0208 a0004c0013t0001g0250 a0005c0129t0003g0209 others(9): Show a0004c0013t0001g0208 a0004c0013t0001g0250 a0005c0129t0003g0209 a0019c0088t0001g0077 a0042c0044t0004g0268 a0118c0130t0002g0245 a0122c0131t0002g0263 a0123c0126t0005g0004 a0125c0127t0002g0299 a0237c0236t0001g0106 a0248c0048t0001g0270 a0249c0047t0001g0221	12	310	0.0387	-160	c.143 others(17): Show c.1432-283_1432-124del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493961	GGGCGGGG others(153): Show GGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCA GTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGG GGGCGGGGCAGTGGCGTGAGGGGCGGGGCAGTGGCGTGGGGAGGGGCAGT GGCGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02602.hp2 HG02735.hp1 others(2): Show HG02165.hp1 HG02602.hp2 HG02735.hp1 HG04115.hp1 NA19085.hp2	a0002 a0045 a0235 others(2): Show a0002 a0045 a0235 a0250 a0251	a0002c0014 a0045c0103 a0235c0235 others(2): Show a0002c0014 a0045c0103 a0235c0235 a0250c0049 a0251c0050	a0002c0014t0003 a0045c0103t0003 a0235c0235t0002 others(2): Show a0002c0014t0003 a0045c0103t0003 a0235c0235t0002 a0250c0049t0002 a0251c0050t0002	a0002c0014t0003g0123 a0045c0103t0003g0289 a0235c0235t0002g0070 others(2): Show a0002c0014t0003g0123 a0045c0103t0003g0289 a0235c0235t0002g0070 a0250c0049t0002g0057 a0251c0050t0002g0194	5	310	0.0161	-160	c.143 others(17): Show c.1432-325_1432-166del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRBA_chr4_150259435_151020284	150420449	AATATATA others(153): Show AATATATAAAGTATATATAATACACATTATAATATATATAAAGTATATAT AATACACATTATAATATATATAAAGTATATATAATACACATTATAATATA TATAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATA CACATTATAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02723.hp2 others(2): Show HG01891.hp2 HG02486.hp2 HG02723.hp2 NA18970.hp2 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0003 a0001c0001t0001 a0008c0016t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0001g0097 a0008c0016t0003g0127	5	180	0.0278	-160	c.704 others(19): Show c.7042-5019_7042-4860del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150658528	CCTCTCCC others(153): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0003 a0006c0008t0001 a0006c0008t0003	a0006c0008t0001g0113 a0006c0008t0003g0115 a0006c0008t0001g0113 a0006c0008t0003g0115	2	180	0.0111	-160	c.592 others(21): Show c.5921+24863_5921+25022del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LY86_chr6_6583720_6659982	6612831	ACCTTGAG others(153): Show ACCTTGAGCTAGATACAGAGTGCTGATTGGTGTATTTACATTCCCTTAGC TAGACATAAAGGTTCTCCAAGTCCTCACCAGCTTAACTAGATACAGAGTG CCAATTGGTGCATTCACAAACTCTGAGCTAGACACAGGGTGCTGATTGGT GTGTTAACAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG03516.hp2 others(3): Show HG02258.hp2 HG02451.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0105 a0001c0001t0001g0289 a0001c0001t0001g0290 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0399 a0002c0002t0001g0106 a0003c0004t0001g0104	6	424	0.0142	-160	c.137 others(19): Show c.137-12055_137-11896del	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP4K4_chr2_101692707_101899690	101785658	TCTTCTTT others(153): Show TCTTCTTTCTTTCTTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18965.hp1 NA18942.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0249 a0001c0001t0020g0250 a0001c0001t0002g0249 a0001c0001t0020g0250	2	310	0.0065	-160	c.124 others(17): Show c.124-5061_124-4902del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736332	ATCCGTGT others(153): Show ATCCGTGTGAGCGTGTGACCGTCCGTGTGTGACCGTCCGTGTGAGCATCC GTGTGAGCGTGACCGTCCGTGTGTGACCGTCCGTGTAAGCATCCGTGTGA GCGTGTGACTGTCCGTGTGAGCGTGTGACCATCCATGTGAGCATCCGTGT GACCGTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02572.hp2 others(5): Show HG01891.hp1 HG02055.hp2 HG02572.hp2 HG02818.hp2 HG03041.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0015 others(1): Show a0001c0001 a0001c0005 a0001c0015 a0001c0033	a0001c0001t0002 a0001c0005t0013 a0001c0015t0002 others(1): Show a0001c0001t0002 a0001c0005t0013 a0001c0015t0002 a0001c0033t0002	a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0319 others(5): Show a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0005t0013g0305 a0001c0005t0013g0306 a0001c0015t0002g0310 a0001c0033t0002g0311	8	330	0.0242	-160	c.602 others(17): Show c.602+6815_603-6780del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MCTP2_chr15_94226561_94488952	94244406	TCGTATAT others(153): Show TCGTATATGTATACACATACATATGCACCTATGTTTATATACGTATATGT ATACACATACATATGCACCTATGTTTATATACGTATATGTATACACATAC ATATGCACCTATATTTATATTCGTATATGTATACACATACATATGCACCT ATGTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp1 others(12): Show HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0013	a0001c0001 a0001c0002 a0001c0013 others(5): Show a0001c0001 a0001c0002 a0001c0013 a0001c0017 a0002c0003 a0004c0008 a0007c0018 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0056 a0001c0002t0001 a0001c0002t0006 a0001c0002t0046 a0001c0013t0001 a0001c0017t0013 a0002c0003t0007 a0004c0008t0019 a0007c0018t0026 a0013c0023t0001	a0001c0001t0001g0049 a0001c0001t0002g0031 a0001c0001t0009g0030 others(12): Show a0001c0001t0001g0049 a0001c0001t0002g0031 a0001c0001t0009g0030 a0001c0001t0011g0028 a0001c0001t0011g0050 a0001c0001t0056g0026 a0001c0002t0001g0024 a0001c0002t0006g0025 a0001c0002t0046g0029 a0001c0013t0001g0034 a0001c0017t0013g0023 a0002c0003t0007g0027 a0004c0008t0019g0035 a0007c0018t0026g0033 a0013c0023t0001g0032	15	276	0.0544	-160	c.-66 others(19): Show c.-66+12821_-66+12980del	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244526	TCGTATAT others(153): Show TCGTATATGTATACACATACATATGCACCTATGTTTATATACGTATATGT ATACACATACATATGCACCTATGTTTATATACGTATATGTATACACATAC ATATGCACCTATGTTTATAAACGTATATGTATACACATACATATCCACCT ATGTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0029 a0002c0003t0029	a0002c0003t0029g0139 a0002c0003t0029g0139	1	276	0.0036	-160	c.-66 others(19): Show c.-66+12902_-66+13061del	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDK_chr11_46376669_46388801	46386979	GCTGTGGA others(153): Show GCTGTGGAGAGTGGCCCTGCCAGGGGCAGTAGCCACAGCAAAGGCCTGGA GGCAGCGCAAGGCCTGGACAGAGGCCAGTGCTGGGGGAGCTCAGGGAAGC AAGAGGAGGAGGAGAGTGGTCCCAGAGGCCCACGAGCATGTGGGCTCTGG AGGGAGGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01123.hp2 HG01169.hp2 others(3): Show HG00099.hp2 HG01123.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0005 a0001c0001t0001g0005 a0001c0002t0001g0005	6	310	0.0194	-160	c.34 others(11): Show c.3486_*3645del	MDK	ENSG00000110492.17	transcript	ENST00000395566.9	protein_coding		3179		chr11	TogoVar
METAP1D_chr2_171994953_172087430	172042575	ATATATGT others(153): Show ATATATGTGTGTATGTGTACATGTGCACATATATACATATATGTGTGTAT GTGTACACATATACATATGTGTGTATGTGTATATGTGTACACATATACGT GTGTATGTGTATATGTGTACACATATACGTGTGTGTGTGTATATGTGTAC ACATATACGTG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	356	0.0028	-160	c.41- others(17): Show c.41-18921_41-18762del	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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