Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(642): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0219 a0001c0003t0014g0219	1	249	0.0040	649	c.49- others(664): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(642): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATTTCTCACTACCACCGTCATCACCATCACCATC ACCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCAC CATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCA CCACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 HG01496.hp2 others(6): Show HG00140.hp1 HG01361.hp2 HG01496.hp2 HG02132.hp2 HG02615.hp1 HG02735.hp2 NA18747.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0112 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0324 a0002c0002t0001g0029	9	350	0.0257	649	c.135 others(666): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGTTG GTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGTGG TGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTG GTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGG ATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGAT AATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGA TGGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATG TGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(642): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATTTCTCACTACCACCGTCATCACCATCACCATC ACCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCAC CATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCA CCACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	350	0.0029	649	c.135 others(666): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGTGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGTTG GTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACAGTGGTGG TGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTG GTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGG ATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGAT AATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGA TGGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATG TGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(642): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATTTCTCACTACCACCGTCATCACCATCACCATC ACCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCAC CATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCA CCACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(158): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0010 a0012 a0013 a0014	a0001c0001 a0001c0012 a0001c0017 others(7): Show a0001c0001 a0001c0012 a0001c0017 a0002c0002 a0004c0006 a0007c0014 a0010c0021 a0012c0020 a0013c0019 a0014c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0012t0001 a0001c0017t0001 a0002c0002t0001 a0004c0006t0001 a0007c0014t0001 a0010c0021t0001 a0012c0020t0001 a0013c0019t0001 a0014c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0305 a0001c0001t0001g0317 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0003g0002 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0120 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0006g0174 a0001c0001t0006g0177 a0001c0001t0008g0012 a0001c0001t0010g0099 a0001c0001t0014g0098 a0001c0001t0017g0220 a0001c0001t0021g0160 a0001c0012t0001g0045 a0001c0012t0001g0258 a0001c0012t0001g0261 a0001c0017t0001g0199 a0002c0002t0001g0130 a0004c0006t0001g0108 a0007c0014t0001g0224 a0010c0021t0001g0263 a0012c0020t0001g0103 a0013c0019t0001g0247 a0014c0018t0001g0255	161	350	0.4600	649	c.135 others(666): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGTTG GTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACAGTGGTGG TGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTG GTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGG ATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGAT AATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGA TGGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATG TGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(642): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATTTCTCACTACCACCGTCATCACCATCACCATC ACCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCAC CATCACAACCATTCTCCTCACCACCACCATCATTCTCACTACCATCACCA CCACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	350	0.0029	649	c.135 others(666): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGAGAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGTTG GTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACAGTGGTGG TGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTG GTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGG ATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGAT AATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGA TGGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATG TGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(642): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC TCTACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCA CCATCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACT ACCACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACC ATTACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTT CATCACCACCATAATCATTTCTCACTACCACCGTCATCACCATCACCATC ACCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCAC CATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCA CCACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	350	0.0029	649	c.135 others(666): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGTTG GTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACAGTGGTGG TGGTAGTGAGGATGATGGTAGAGATGATGGTTGTGTTGAGGATGATGGTG GTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGG ATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGAT AATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGA TGGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATG TGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANO9_chr11_412938_447011	431622	C C	CGGGTATC others(642): Show CGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGGGTATCTG GGGGCGTCTGCGGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCGT CTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCG TCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGGCTTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGG CTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGGCGTCCGCGGG TATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGG CGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGGCATCTGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGG GGGCACCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	286	0.0035	649	c.539 others(662): Show c.539+71_539+72insACGGACGCCCCCACACCCCCGCAGACGCCCCC AGATACCCGCGGGTGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGC GGACGCCCCCACACCCCCGCAGATGCCCCCCCCAGATACCCACGGGAGCC CCCACACCCCTGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGACGCCCCCACATCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACC CCCGCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCAC ACCCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCA GACGCCCCCAGATACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(642): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGTGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0236 a0001c0002t0004g0236	1	268	0.0037	649	c.136 others(666): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGTGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964867	A A	ATGGAAAG others(642): Show ATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0191 a0001c0004t0002g0192	2	268	0.0075	649	c.137 others(666): Show c.137-5126_137-5125insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGA TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144531859	G G	GGGCTAGA others(642): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18947.hp1 NA18941.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	246	0.0081	649	c.298 others(666): Show c.2980+445_2980+446insTACTCCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(642): Show ACAGAAAGTCAGGAGTCCAGATGTGCCAGTCTCAACTCCAGTTTTACATG CCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGAT ACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATGG GAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATAG ATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGCA GCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTCT ATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATACA AAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAGA TCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTAT ATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCAG GTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCCC ATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTAC CATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTCC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	410	0.0024	649	c.196 others(668): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	82972052	G G	GGGGCCAG others(642): Show GGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAG GACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACT GACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACACACCACACC ATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGATAGAA GGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGACCTGGTGCCG ACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACTC ATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGT ACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACAC CACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACACCACAGG GGCCAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTAGAAGGA CCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18960.hp2 NA18971.hp2 others(2): Show HG02683.hp1 NA18960.hp2 NA18971.hp2 NA19064.hp2 NA19084.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0005 a0001c0004t0001 a0001c0007t0005	a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0048 others(2): Show a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0048 a0001c0007t0005g0250 a0001c0007t0005g0251	5	266	0.0188	649	c.460 others(666): Show c.460-6307_460-6306insATGGTGTGGTGTGGTCAGTACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCAT GGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGG TCAGCACCAGGTCCTTCTGGCCCCTGTGGTGTGCTGTGGTCGGCACCAGG TCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCC CCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTG GTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCG GCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTC TGGCCCATGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGTGGT GTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC GGCACCAGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(642): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGA AGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAG GGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAG GAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGG AAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGG GGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	649	c.-70 others(658): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG ACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGT GGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(642): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGGGGT GACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAGTG ATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTG GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCGGTGATGG TGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGGTGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	292	0.0034	649	c.21 others(664): Show c.21-379_*21-378insATCACCACCACCACCATCACCACCACCACC ATCATCACCATCACCACCACCATCACCACCATCACCACCATCATCACCAT CACCACCACCACCATCACCACCATCACCGCCACCATCACCATCACCATCA CCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCACCAC CACCACCATCACCATCACCACCACCATCACCACCATCACCGTCACCACCA TCACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ACCACCATCACCACCATCATCACTATCACCACCATCACCACCATCATCAC CACCACCACCACCACCATCACCACCACCATCACCACCATCACCATCACCA CCATCATCACCACCACCGTCACCCCCATCATTACCATCACCACCACCACC ACCATGACCACCACCACCACCACTCTCACCATCATCATCACTGTCACCAC CACCACCACCACCACCACCATCACTACCATCGTCACCATCACCACTACCT CCATCTCCACCACTACCACCCCCACCACCACTCTCACCACCATCACCATC ACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C8orf82_chr8_144520733_144534111	144531859	G G	GGGCTAGA others(642): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	398	0.0025	649	c.-29 others(660): Show c.-2944_-2943insTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2749		chr8	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(642): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAT CACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCAC CACCACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCA CCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATC ATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCAACAC CACCATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01175.hp1 others(9): Show HG00733.hp2 HG01070.hp2 HG01175.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02698.hp1 HG02818.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 others(7): Show a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 a0001c0005t0060 a0002c0006t0025 a0002c0006t0027 a0002c0006t0050 a0002c0006t0052 a0002c0006t0053 a0002c0006t0055	a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 others(9): Show a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 a0001c0005t0030g0187 a0001c0005t0059g0185 a0001c0005t0060g0183 a0002c0006t0025g0188 a0002c0006t0027g0192 a0002c0006t0050g0189 a0002c0006t0052g0190 a0002c0006t0053g0191 a0002c0006t0055g0193	12	376	0.0319	649	c.63+ others(662): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGT GATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGAT GGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGG TGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTG CTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGAT GATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGT TATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGG TGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(642): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	330	0.0030	649	c.907 others(664): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATATAATTATATATAATATATATAATTATATATATAATTTTA TATATATATATAATTATATATATATATATAAATATATATAATTATATATA TAAAATTATATATATAATTATATATAATATATATAATTATATATATAATT TTATATATATATAATTATATATATATAAATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAAAATTATATATATAATTATAT ATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(642): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTATATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	330	0.0030	649	c.907 others(664): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATATAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATAATTATATATAATATATATATAATTATATATATAATTTTA TATATATATATAATTATATATATATATATATATATAATTATATATATAAA ATTATATATATAATTATATATAATATATATATAATTATATATATAATTTT ATATATATATATAATTATATATATATAAATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAAAATTATATATATAATTATAT ATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(642): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTATATA TATAATTTTATATATATAATTATATATATAATTTTATATATATATAATTA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	330	0.0030	649	c.907 others(664): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATTATATATATATAAAATTATATATATA ATTATATATATAAAATTATATATATAATTATATATATAATTATATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAAAATTATATATATAAAAT TATATATATAAAATTATATATATAATTATATATATAAAATTATATATAAT ATATATATATAATTATATATAATATATATATAATTATATATATAATTTTA TATATATATATAATTATATATATATATAAATATATATAATTATATATATA AAATTATATATATAATTATATATAATATATATAATTATATATATAATTTT ATATATATATATAATTATATATATATAAATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAAAATTATATATATAATTATAT ATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(642): Show TGGGGTGGGAGGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGT GGAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGG GTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGT GTGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGG TTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGA GGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTG GGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	284	0.0035	649	c.712 others(666): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCC CCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCC ACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTAC CCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCC AGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCA CCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCT TCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCC ACCCCACCCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(642): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTAGGGTGGGGGAAGGGTGCGGGTGGGG TTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGA GGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTG GGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGG AGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	284	0.0035	649	c.712 others(666): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCC CCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCC ACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTAC CCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCC CAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCC ACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCC TTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(642): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	288	0.0035	649	c.303 others(668): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(642): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCC CTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTT TCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0266 a0001c0002t0027g0266	1	270	0.0037	649	c.162 others(670): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CTTCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCT CCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133733	T T	TCTCTCTC others(642): Show TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	223	0.0045	649	c.-43 others(660): Show c.-4311_-4310insCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4028		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45502089	A A	ACAGCCGG others(642): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG ACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA GGGGCTCCACAGCTGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTC CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCAC CTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCT CTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0001 a0001c0093t0001	a0001c0093t0001g0251 a0001c0093t0001g0251	1	292	0.0034	649	c.268 others(668): Show c.2684-1891_2684-1890insCCAGGGGCTTCAAAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC ACAGCTGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACC TCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCT GCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAA GGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCC CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGT CACCTCCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825182	A A	AGGGGCTG others(642): Show AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0131 a0001c0005t0001g0131	1	412	0.0024	649	c.630 others(664): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGG GAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(642): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCTGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATC CATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	1	348	0.0029	649	c.13 others(660): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCC GTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGT CCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923662	T T	TCCCCCCA others(642): Show TCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACTGAC CCGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAACCCCGGCCCCCCACACTGACCCGGCCCCCC ACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCCAGCCC CCCACACTAACCCAGCCCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTGACCCCGGCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCC CCACACTAACCCCGGCCCCCCCACACTAACCCGGCCCCCCCACACTAAAC CCGGCCCCCACACTAACCCAGCCCCCACACTAAACCCAGTCCCCACACTA ACCCAGCCCCCCACACTAACCCGGCCCCCCCACACTAACCCAGCCCCCAC ACTAACCCAGTCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0048 a0048	a0048c0066 a0048c0066	a0048c0066t0002 a0048c0066t0002	a0048c0066t0002g0269 a0048c0066t0002g0269	1	350	0.0029	649	c.488 others(666): Show c.488+1021_488+1022insCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACT GACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCCGGCCCCCCA CACTGACCCGGCCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCC CACACTGACCCCAGCCCCCCACACTAACCCAGCCCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCCACACTGACCCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCC CCACACTAACCCAGCCCCCACACTAACCCCGGCCCCCCCACACTAACCCG GCCCCCCCACACTAAACCCGGCCCCCACACTAACCCAGCCCCCACACTAA ACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGTCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TTACTACT others(642): Show TTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACTACCACCACCACCACCATTATAACCATCACCACCAC CACTATAACCACCATCATCACCACCACCACTACCACTACTATAACCATCA CCACCATCACTACTATAACCACCACCACCACCACCACCACCACTATAATC ATTACCACTATAACCACCACTACCACCACTACCACTATGATAACCATCAC CAACACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCAT AAACACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAA CACCACCACCACTACTACCACTACTATAACCATCACCACCATCACTGCTA TAATCACCACCACCACCACCATCACTATAACCATCACCACCATCACCACT ATAACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCA TCACTGCTATAATCACCACCACCACCACCATCACTATAACCATCACCACC ATCACCACTATAACCACCACTACCACCACCACCATTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	230	0.0044	649	c.724 others(668): Show c.724-10823_724-10822insGTGGTGATGGTTATAATGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGATGGTGG TGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAAT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTG GTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGG TGGTGGTGGTGGTTATAGTAGTA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	516743	G G	GGAGGGGA others(642): Show GGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAA GGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGAGGGGGG AAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGGGGAAGGGG GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAG GGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAG GGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGG AGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGGGGGGA CAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGACACAGGG GGTAGGGTGGGGGGGGCACAGGGGGTAGGGTGGGGGGGGGACACGGGGTA GGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTGGGGGGG GACAGGGGGTAGGGTGGGGGGGGACAGGGGGTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	649	c.86- others(666): Show c.86-30214_86-30213insTACCCCCTGTCCCCCCCCACCCCCTGTC CCCCCCCACCCTACCCCCTGTCCCCCCCCACCCCCTGTCCCCCCCCACCC TACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCCACCCTACCC CCTGTGCCCCCCCCACCCTACCCCCTGTGTCCCCCCCACCCTACCCCGTG TCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCT CCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACC CTACCCCGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTA CCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTAC CCCCTGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACC CCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCC CCTGTCCCACTGTCCACCTTACCCCCTTCCCCTGTCCCACTGTCCACCTT ACCCCCTTCCCCTTCGCCCCTTCCCCCCTCCCCCTTTCCCCTCCCTTCCC CCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCCCT CCCTTCCCCCCCTTTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(642): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCCTCACCTGCATCCTCAG GGAACCTGCCCACCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCT GCCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCAC CCTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCC TCCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTG CATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCT CAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAA CCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCC ACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCC ACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCAACCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	374	0.0027	649	c.14 others(660): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCC CTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAG AAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTC GGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTTGGGTGG AGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGGTCAGGGTGGAGGATG GGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGT TCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(642): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTG CCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAAC CTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCTGACCC TCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCG CATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCT CAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	374	0.0027	649	c.14 others(660): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCC CTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGT CGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGGTGGGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGT TCCCTGAGGATGCGGAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGA GGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGC GGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAG GTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGG TGGAGGATGGGCAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(642): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCC ACCCTCCTCCGAATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTC CTCCGAATCCTCAGGGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGC ATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCA AGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCAC CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	374	0.0027	649	c.13 others(660): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGT GGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAG GTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCT GAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATG CAGGTGAGGTCAGGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
FARP2_chr2_241351285_241499841	241457540	G G	GCACTAAG others(642): Show GCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGGGAGACCCA GTGTAGAAACATCTGGGTGCTAAGGGAGGGTACACTAGGGACCGCTTTGG GTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTG CTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGG GCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTACACTAG GGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGA AAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGGACCGCTTTGGGTTCCG GAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGG GAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGGGA GACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTGCACTAGGGACCG CTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATC TGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGC TCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0354 a0002c0002t0001g0354	1	378	0.0027	649	c.158 others(666): Show c.1587+623_1587+624insAGGACCGCTTTGGGTTCTGGAGAGGCTC TTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTACA CTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTG TAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTT CTGGAGAGGCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTA AGGGAGGGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCG GGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGG ACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAA GATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAG AGGCTCTTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAG GGTGCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGAC CCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTT TGGGTTCTGGAGAGGCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGG GTGCTAAGGGAGGGTACACTA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(642): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAACACATACCC CCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCC TCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGAC ACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	143	0.0070	649	c.35 others(660): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGG GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGG GGATGTGTTCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGG ATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGAT GTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGT GTCCCGTGGGGGGAGGGGGTATGTGTTCCCGTGGGGGGAGGGGGGATGTG TCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(642): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCCACAGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	143	0.0070	649	c.35 others(660): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGG GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCTGTGGGGGGG AGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGG GGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGG GATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATG TGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	143	0.0070	649	c.35 others(660): Show c.3535_*3536insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGG GGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGG GATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGA TGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTC CCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCC GTGGGGGGAGGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGA GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGG GAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3220		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	143	0.0070	649	c.35 others(660): Show c.3535_*3536insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGG GGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGG GGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGG ATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGT GTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGT CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGA GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGG GAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3220		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	143	0.0070	649	c.35 others(660): Show c.3535_*3536insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGGA GGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGG GGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGG ATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGT GTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGT CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGA GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGG GAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3220		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817361	T T	TACCCCCT others(642): Show TACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCATGGGACACATA CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCC CCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGA CACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCTCCCTCCATGGGACACATCCCCCCTCCCCCCACGGGACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	143	0.0070	649	c.35 others(660): Show c.3502_*3503insGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC ATGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCT GGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGG GGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGG AGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGG GATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTG TCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTC CCCTGGAGGGAGGGGGTATGTGTCCCATGGGGGGAGGAGGGATGTGTCCC GTGGGGGGAGGGGGT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3187		chr13	TogoVar
GNPTAB_chr12_101740499_101835959	101747638	A A	AAAATCAC others(642): Show AAAATCACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATA TTGAAAATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAAT CATTGGAGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAA AGTTCATTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAA AAAGTTTACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAA TAAAATTTCAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTCTGAGACA GAGTCTCACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTG GCTCACCGCAACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGC GTCCTAAGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTT TTGCATTTTTGGTAAAGATGAAGTTTCACCATGTTGGCCAGGCTGGTCTT GAATTCCTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGG GATGACAGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTT TTCCATCTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19005.hp2 NA18747.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0377 a0001c0001t0004g0234 a0001c0001t0004g0377	2	392	0.0051	649	c.369 others(666): Show c.3694-398_3694-397insCATGGTTGGGGAGAGGGAAGACAGGGTA AATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGGCCGGGT GCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGGTGGGCA GATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAAC TTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTGGGCATC TGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTGAACCCT GGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAGAAAAACCC ACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTTCTATTTC AGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAGTTCTAA GCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTAAATTGG GTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGGGGGAGA GAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTTAATCCT ATCTTACAAATGTAGTGATTT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(642): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTCAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTCTGAGACAGAGTCT CACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCAC CGCAACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCTA AGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCAT TTTTGGTAAAGATGAAGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTC CTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCAT CTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp1 others(120): Show HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19240.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0013 a0001c0015 a0001c0024 a0001c0025 a0006c0010 a0007c0016 a0007c0017 a0011c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0008 a0001c0003t0003 a0001c0003t0004 a0001c0007t0004 a0001c0007t0009 a0001c0008t0004 a0001c0013t0003 a0001c0015t0008 a0001c0024t0004 a0001c0025t0001 a0006c0010t0003 a0007c0016t0013 a0007c0017t0013 a0011c0021t0004	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0003g0248 others(119): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0003g0248 a0001c0001t0004g0004 a0001c0001t0004g0218 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0384 a0001c0001t0004g0385 a0001c0001t0004g0386 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0060 a0001c0001t0011g0124 a0001c0001t0016g0011 a0001c0001t0018g0057 a0001c0001t0019g0061 a0001c0001t0025g0258 a0001c0002t0008g0207 a0001c0002t0008g0208 a0001c0002t0008g0209 a0001c0002t0008g0210 a0001c0002t0008g0211 a0001c0002t0008g0212 a0001c0002t0008g0213 a0001c0002t0008g0238 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0004g0135 a0001c0007t0004g0232 a0001c0007t0004g0233 a0001c0007t0009g0052 a0001c0007t0009g0054 a0001c0007t0009g0055 a0001c0007t0009g0056 a0001c0008t0004g0217 a0001c0008t0004g0254 a0001c0008t0004g0257 a0001c0008t0004g0261 a0001c0008t0004g0270 a0001c0008t0004g0276 a0001c0013t0003g0156 a0001c0015t0008g0197 a0001c0024t0004g0269 a0001c0025t0001g0214 a0006c0010t0003g0180 a0006c0010t0003g0181 a0007c0016t0013g0236 a0007c0017t0013g0235 a0011c0021t0004g0241	123	392	0.3138	649	c.369 others(666): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACTTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAGAA AAACCCACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTTC TATTTCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAG TTCTAAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTA AATTGGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGG GGGAGAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTT AATCCTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(642): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTCAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTCTGAGACAGAGTCT CACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCAC CGCAACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCTA AGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCAT TTTTGGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTC CTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCAT CTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(142): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0012	a0001c0001 a0001c0004 a0001c0022 others(6): Show a0001c0001 a0001c0004 a0001c0022 a0002c0009 a0002c0012 a0003c0005 a0004c0006 a0008c0018 a0012c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001 a0001c0004t0006 a0001c0004t0007 a0001c0022t0006 a0002c0009t0001 a0002c0012t0001 a0002c0012t0002 a0003c0005t0001 a0003c0005t0017 a0004c0006t0007 a0004c0006t0014 a0008c0018t0001 a0012c0026t0005	a0001c0001t0001g0220 a0001c0001t0001g0285 a0001c0001t0001g0286 others(142): Show a0001c0001t0001g0220 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0002g0066 a0001c0001t0002g0131 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0034 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0006g0219 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0237 a0001c0001t0006g0253 a0001c0001t0006g0275 a0001c0001t0006g0352 a0001c0001t0007g0279 a0001c0001t0009g0051 a0001c0001t0010g0028 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0015g0018 a0001c0001t0020g0116 a0001c0001t0021g0280 a0001c0001t0022g0344 a0001c0001t0023g0372 a0001c0001t0024g0354 a0001c0004t0001g0200 a0001c0004t0006g0204 a0001c0004t0007g0189 a0001c0004t0007g0190 a0001c0004t0007g0191 a0001c0004t0007g0198 a0001c0004t0007g0199 a0001c0022t0006g0223 a0002c0009t0001g0196 a0002c0009t0001g0201 a0002c0009t0001g0202 a0002c0009t0001g0203 a0002c0009t0001g0205 a0002c0012t0001g0215 a0002c0012t0002g0076 a0003c0005t0001g0281 a0003c0005t0001g0282 a0003c0005t0001g0283 a0003c0005t0001g0284 a0003c0005t0001g0358 a0003c0005t0001g0359 a0003c0005t0017g0053 a0004c0006t0007g0188 a0004c0006t0007g0192 a0004c0006t0007g0193 a0004c0006t0007g0194 a0004c0006t0007g0195 a0004c0006t0014g0005 a0008c0018t0001g0297 a0012c0026t0005g0025	145	392	0.3699	649	c.369 others(666): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAGAA AAACCCACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTTC TATTTCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAG TTCTAAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTA AATTGGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGG GGGAGAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTT AATCCTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(642): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTCAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTCTGAGACAGAGTCT CACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCAC CGCAACTTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCTA AGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCAT TTTTGGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTC CTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCAT CTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	392	0.0026	649	c.369 others(666): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAAGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAGAA AAACCCACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTTC TATTTCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAG TTCTAAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTA AATTGGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGG GGGAGAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTT AATCCTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(642): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTGAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTCTGAGACAGAGTCT CACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCAC CGCAACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCTA AGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCAT TTTTGGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTC CTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCAT CTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02451.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0001 a0001c0023t0001 a0001c0002t0001 a0001c0023t0001	a0001c0002t0001g0206 a0001c0023t0001g0216 a0001c0002t0001g0206 a0001c0023t0001g0216	2	392	0.0051	649	c.369 others(666): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAGAA AAACCCACATTTTTAAATTCAAATTTTATTATAATGTTGATTTGGTTTTC TATTTCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAG TTCTAAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTA AATTGGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGG GGGAGAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTT AATCCTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GPR35_chr2_240620480_240638159	240626205	G G	GTGATGGG others(642): Show GTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTG GGGTGAAGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGTTC TCAGAGCGGGGTGAGGCTATGATGGGGTCTCAGAGCGGGGTGAGTCTCTG ATGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTG AGGCTGTGACGGGGTCTCAGAGTGGGGCAAGGCTGTGATGGGGTCTCAGA GTGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTCTGATGGG GTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGG CTGTGACGGGGTCTCAGAGTGGGGTGAGGCAGTGATGGGTGTCTCAGAGT GGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATGGGG TCTCAGAGCGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGC TGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGAGGGTCTCAGAGTG GGGTGAGGCTCTGATGGGGGTCTCAGAGCAGGGTGAGGCTGTGATGGGGT CTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	400	0.0025	649	c.-5+ others(662): Show c.-5+640_-5+641insTGGGGGTCTCAGAGTGGGGTGAGGCTGTGATG GGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGATGGGGTCTCAGAGC GGGGTGAGTCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGT CTCAGAGCGGGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGCAAGGCTGT GATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGT GAGGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTC AGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCAGTGAT GGGTGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTG AAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGACGGGGGTTCTCA GAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATG AGGGTCTCAGAGTGGGGTGAGGCTCTGATGGGGGTCTCAGAGCAGGGTGA GGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGA GTGGGGTGAAGCTCTGA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRAMD4_chr22_46615386_46684785	46635747	C C	CCCCCGCC others(642): Show CCCCCGCCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCC CCCGGCCACTCCTGTCCTGGGGGACCTGTGTCCTCCCTGCCCCCACTCCC AGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCTCCCCACCCCTGAC CACTCCTGTCCTGGGGGCCCGTATCCTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCT GGGGGACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGG ACCTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCT GTGTCCTCCCTGCTCCCCACCCCTGACCACTCCTGTCCTGGGGGCCCGTG TCCTCCCTGCCCCCCGCCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCT TCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTCCTCCC TGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0277 a0001c0001t0058g0277	1	328	0.0031	649	c.163 others(666): Show c.163-2068_163-2067insGGGGGACCGTGTCTTCCCTGCCCCCGCC CCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGGGACCTGTGTCCTCCCTGCCCCCACTCCCAGCC ACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCTCCCCACCCCTGACCACT CCTGTCCTGGGGGCCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCT GGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGG GACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCT GTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGT CCTCCCTGCTCCCCACCCCTGACCACTCCTGTCCTGGGGGCCCGTGTCCT CCCTGCCCCCCGCCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTCCTCCCTGCC CCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCTCCCC GCCCCTGGCCACTCCTGTCCT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(642): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0198 a0003c0003t0002g0198	1	268	0.0037	649	c.-28 others(660): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTATATTAATATA TAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTATATAT TAATATATAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(642): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	308	0.0033	649	c.127 others(668): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KLHL15_chrX_23978720_24032186	23982672	A A	AAAAAAAA others(642): Show AAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTCCAGAAGGCCA GCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGGAAAGGAGAGG GCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAAATGTTGGGGT TAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAATTGTAGGCAAT GGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTTTGGGGGAGTA GACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTCCAATACAACA GTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAGAAATACAGAT ATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGTGGCTCACACC TGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCATCTGAGGTCAG GAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAATCCCAGCTAC TTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGGTGGAGGTTGC AGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAAGGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	286	0.0035	649	c.52 others(660): Show c.5248_*5249insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1047		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)