Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(757): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTG ATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATG ATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGTGATAGTGA TGATGGTGATGATGCTGATGGTGATGATGGTGATAGTGATGATGGTGATG GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGAT GGGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGACGGCGATG ATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATA GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGG TGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGATGATGTTGATG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGA TAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0311 a0011c0014t0001g0311	1	346	0.0029	764	c.963 others(781): Show c.963+3647_963+3648insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCGTCACA TCATCACCATCACCACCATCATCAACATCACCATCCCATCATCACCATAA TCACCATCACCATCATCACCATCATCACCATCATCACCATCACCATCATC ACTATCACCATCATCACCATCAGCATCATCACCATCATCACTATCACATC ATCACCATCACATCATCACCATCACCATCATCACCATCATCACTATCATC GCCATCACATCATCACCATCACCACCATCATCAACATCACCATCACATCA TCACCATCACCATCATCACCATCATCACCATCACCATCACCATCATCACC ATCACCATCACAGTCACCATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(757): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTG ATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATG ATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGTGATAGTGA TGATGGTGATGATGCTGATGGTGATGATGGTGATAGTGATGATGGTGATG GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGAT GGGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATG ATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATA GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGG TGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGATGATGTTGATG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGA TAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(71): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01256.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0010 a0011 a0012 a0015 a0017 a0018 a0023 a0024 a0026 a0027 a0036 a0057 a0060 a0061 a0062 a0083 a0084 a0087 a0089 a0097 a0099 a0100 a0101 a0104 a0105 a0106 a0108 a0109	a0001c0001 a0001c0106 a0002c0002 others(34): Show a0001c0001 a0001c0106 a0002c0002 a0003c0004 a0003c0011 a0003c0086 a0003c0090 a0004c0003 a0004c0087 a0010c0009 a0011c0014 a0012c0013 a0015c0018 a0017c0019 a0018c0016 a0023c0021 a0024c0027 a0026c0042 a0027c0038 a0036c0039 a0057c0067 a0060c0049 a0061c0089 a0062c0082 a0083c0047 a0084c0044 a0087c0062 a0089c0091 a0097c0101 a0099c0103 a0100c0093 a0101c0095 a0104c0063 a0105c0092 a0106c0118 a0108c0070 a0109c0061	a0001c0001t0001 a0001c0106t0001 a0002c0002t0001 others(34): Show a0001c0001t0001 a0001c0106t0001 a0002c0002t0001 a0003c0004t0001 a0003c0011t0001 a0003c0086t0001 a0003c0090t0001 a0004c0003t0001 a0004c0087t0001 a0010c0009t0001 a0011c0014t0001 a0012c0013t0001 a0015c0018t0001 a0017c0019t0001 a0018c0016t0001 a0023c0021t0001 a0024c0027t0001 a0026c0042t0001 a0027c0038t0001 a0036c0039t0001 a0057c0067t0001 a0060c0049t0001 a0061c0089t0001 a0062c0082t0001 a0083c0047t0001 a0084c0044t0001 a0087c0062t0001 a0089c0091t0001 a0097c0101t0001 a0099c0103t0001 a0100c0093t0001 a0101c0095t0001 a0104c0063t0001 a0105c0092t0001 a0106c0118t0001 a0108c0070t0001 a0109c0061t0001	a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0001t0001g0210 others(68): Show a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0001t0001g0210 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0106t0001g0259 a0002c0002t0001g0265 a0002c0002t0001g0309 a0003c0004t0001g0005 a0003c0004t0001g0252 a0003c0004t0001g0260 a0003c0004t0001g0262 a0003c0004t0001g0267 a0003c0004t0001g0269 a0003c0011t0001g0247 a0003c0011t0001g0248 a0003c0011t0001g0257 a0003c0011t0001g0268 a0003c0086t0001g0246 a0003c0090t0001g0254 a0004c0003t0001g0006 a0004c0003t0001g0251 a0004c0003t0001g0253 a0004c0003t0001g0258 a0004c0003t0001g0261 a0004c0087t0001g0249 a0010c0009t0001g0162 a0010c0009t0001g0163 a0010c0009t0001g0164 a0010c0009t0001g0167 a0010c0009t0001g0168 a0010c0009t0001g0215 a0011c0014t0001g0151 a0012c0013t0001g0245 a0015c0018t0001g0221 a0015c0018t0001g0224 a0017c0019t0001g0310 a0018c0016t0001g0211 a0018c0016t0001g0214 a0018c0016t0001g0219 a0018c0016t0001g0220 a0023c0021t0001g0165 a0023c0021t0001g0166 a0023c0021t0001g0169 a0024c0027t0001g0020 a0024c0027t0001g0041 a0026c0042t0001g0333 a0026c0042t0001g0334 a0027c0038t0001g0002 a0036c0039t0001g0013 a0057c0067t0001g0226 a0060c0049t0001g0319 a0061c0089t0001g0250 a0062c0082t0001g0222 a0083c0047t0001g0012 a0084c0044t0001g0011 a0087c0062t0001g0021 a0089c0091t0001g0067 a0097c0101t0001g0087 a0099c0103t0001g0244 a0100c0093t0001g0289 a0101c0095t0001g0280 a0104c0063t0001g0070 a0105c0092t0001g0255 a0106c0118t0001g0338 a0108c0070t0001g0026 a0109c0061t0001g0060	74	346	0.2139	764	c.963 others(781): Show c.963+3647_963+3648insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACA TCATCACCATCACCACCATCATCAACATCACCATCCCATCATCACCATAA TCACCATCACCATCATCACCATCATCACCATCATCACCATCACCATCATC ACTATCACCATCATCACCATCAGCATCATCACCATCATCACTATCACATC ATCACCATCACATCATCACCATCACCATCATCACCATCATCACTATCATC GCCATCACATCATCACCATCACCACCATCATCAACATCACCATCACATCA TCACCATCACCATCATCACCATCATCACCATCACCATCACCATCATCACC ATCACCATCACAGTCACCATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGC TTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCC TCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTT AGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGG GCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGG GGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGC CCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCC ATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCT CTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTG TCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGA GAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18985.hp1 NA18986.hp2 others(1): Show NA18983.hp1 NA18985.hp1 NA18986.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0135 a0002c0003t0001g0209 a0002c0003t0001g0210 others(1): Show a0001c0001t0001g0135 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0214	4	380	0.0105	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGC TCCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAG AGACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGG GGCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGC CACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGG ACACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAG AATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCG GACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGG GACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCC AGGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGT TCCCAGTAGATCTGAGAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCACT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCACTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAAGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAAGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTAAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0028 a0001c0002t0001g0069 a0001c0002t0001g0070	4	380	0.0105	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTAAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCCGGACGGTCCCAGCCCC ATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCT CTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTG TCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGA GAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCCG GACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGG GACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCC AGGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGT TCCCAGTAGATCTGAGAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(140): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0013	a0001c0002 a0001c0016 a0002c0003 others(5): Show a0001c0002 a0001c0016 a0002c0003 a0004c0006 a0005c0008 a0006c0009 a0010c0010 a0013c0017	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0016t0001 a0002c0003t0001 a0004c0006t0001 a0005c0008t0001 a0006c0009t0001 a0010c0010t0001 a0013c0017t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(57): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0003g0014 a0001c0002t0004g0087 a0001c0016t0001g0063 a0002c0003t0001g0207 a0004c0006t0001g0001 a0004c0006t0001g0004 a0005c0008t0001g0091 a0006c0009t0001g0030 a0010c0010t0001g0051 a0013c0017t0001g0001	143	380	0.3763	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGG GGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGC CCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCC ATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCT CTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTG TCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGA GAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGG ACACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAG AATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCG GACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGG GACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCC AGGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGT TCCCAGTAGATCTGAGAATGCCTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCTACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCTACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128798317	T T	TCTTGGCT others(757): Show TCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAGGCGATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCTTGCCTGGCT AATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAACCATTTTGGCCAGGC TGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCTCCTCAGTAGGGTGCT TTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGAGACCGAGGCTGCCCT CGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGGGCGCGCGCGGCCTTA GAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCCACAGCCCCTCCGGGG CGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGACACAGCTCTACGGGG GGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGAATCCACTTCTCTGCC CGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGGACGGTCCCAGCCCCA TACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGGACCCTGGCTGGCCTC TTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCAGGCCTCGGGTCCTGT CCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTTCCCAGTAGATCTGAG AATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGCA GTGCAACGGCGCGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	380	0.0026	764	c.347 others(781): Show c.347-2863_347-2862insTCACTGCAACTTCCACCTCCTGGGTTCA GGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCG CCACCTTGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCAA CCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCCCC CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCTGCT CCTCAGTAGGGTGCTTTCTAGGCTGAGATCCCCCACGGCCCTGCGGGAGA GACCGAGGCTGCCCTCGCGCACGCGCGTCACCCGTTTCCGCCTGGACGGG GCGCGCGCGGCCTTAGAGGCAGCTGCTGTTCAGAGGCCGTTCCGGCCGCC ACAGCCCCTCCGGGGCGGGACCGGCCAGCGGCTGGGTGGCCCCCCAGGGA CACAGCTCTACGGGGGGCGGCGAGATGGAGGCCATAACCAGTGAGTGAGA ATCCACTTCTCTGCCCGCAGCCCGACTCCTCAGCCCTCGGCCTCGCCCGG ACGGTCCCAGCCCCATACTCAACGGGCGCCAGCGCCTCGGAACCCGGGGG ACCCTGGCTGGCCTCTTCAACTCCCGGGCGCTCCTGGATTAGTCTGCCCA GGCCTCGGGTCCTGTCCCGGGTGACTCTAGGTGACCCTGCACCTTCTGTT CCCAGTAGATCTGAGAATGCCTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGCAGTGCAACGGCGCGACCTTGGC	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(757): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGC CAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19057.hp2 HG02165.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0105 a0001c0001t0002g0081 a0001c0001t0002g0105	2	288	0.0069	764	c.303 others(783): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(757): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGC CAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	288	0.0035	764	c.303 others(783): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(757): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTAGAGACGGAGTCTC ACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAA CCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAAATTTTTATATTTTTG GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAACCTCCTGAC CTCAGGTGATCCACCCATGTCGCCCTCCCAAACTGCTGGGATTACAGGCG TGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTGTTTGTTTTATTCCGT ATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCATTGACATGGTGGCT CACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATTACCTG AGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTAGCAGGTGGA GGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	404	0.0025	764	c.113 others(779): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAAT CTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAA ATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGG TCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTG CTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTG TTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC ATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGG TGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGG TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTG CATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTG AATCTAGCAGGTGGAGGTTGCAGTGAGCCAAGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH23_chr10_71391920_71820947	71688976	G G	GGTGGTGG others(757): Show GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAG TCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGG GATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACAGTGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGCGGTGGTGGAGTCAGGGATGGTGGAG CCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGG GGTGGTGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01346.hp1 HG01884.hp1 others(7): Show HG01106.hp1 HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02300.hp2 HG02738.hp2 HG02818.hp2 NA18977.hp2 NA18999.hp2 NA19002.hp1	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0006 a0011 a0045 a0069 a0098	a0002c0001 a0004c0025 a0005c0045 others(6): Show a0002c0001 a0004c0025 a0005c0045 a0006c0013 a0006c0018 a0011c0070 a0045c0165 a0069c0149 a0098c0039	a0002c0001t0001 a0002c0001t0002 a0004c0025t0005 others(7): Show a0002c0001t0001 a0002c0001t0002 a0004c0025t0005 a0005c0045t0003 a0006c0013t0004 a0006c0018t0004 a0011c0070t0005 a0045c0165t0005 a0069c0149t0008 a0098c0039t0004	a0002c0001t0001g0156 a0002c0001t0002g0063 a0004c0025t0005g0123 others(7): Show a0002c0001t0001g0156 a0002c0001t0002g0063 a0004c0025t0005g0123 a0005c0045t0003g0109 a0006c0013t0004g0059 a0006c0018t0004g0046 a0011c0070t0005g0082 a0045c0165t0005g0170 a0069c0149t0008g0005 a0098c0039t0004g0084	10	196	0.0510	764	c.205 others(783): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGT GGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGG AGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCA GGGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGG AGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGG AGCCAACAGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGCGGT GGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGG AGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(757): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTC CTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCA CTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGT ATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCC CACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTG GAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGAC ATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT GCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTG CCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCT GGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0010 a0002c0002t0006g0010	1	324	0.0031	764	c.127 others(783): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTG TGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACA CAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTG TAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACT CTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTAT GGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATT TCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCC CACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCT GTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGC CCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CNOT3_chr19_54132762_54160681	54133793	T T	TCTCTCCC others(757): Show TCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	223	0.0045	764	c.-42 others(775): Show c.-4251_-4250insCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3968		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATATATA others(757): Show AATATATATAAATATATAAATATATATAAATATATATAAATATAAAAATA TATATAAATATATAAATATATATAAATATATATGTAAATATATAAATATA TATAAATATATATGTAAATATATAAATATATATAAATAAATATATATAAA TATATATAAATATAAATATATATATAAATATGTAATTATAAATATATATG TAAATACATATAAATATAAATATATTTATAAATATATAAATATATATAAA AATATATATAAATATATAAAAAAATATAAATATATATAAATATATAAATA TATGTAAATATATATAAATATATATATAAATATATATATAAATATATATA TATATAAAAATATATATATAAATATATATATATAAATATATATAAATATA TAACTATACAAATAAATATATATAAATATATAAATATATAAAAATATATA TAAATATATATGTAAATATATAAATATATATATAAATATATATAAATATA TATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATATA TAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATA AATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATATAAATATATATAAGTATATATAAATATATATAAATATATATA AGTATATATAAATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0103 a0004c0004t0002g0106 a0004c0004t0002g0103 a0004c0004t0002g0106	2	264	0.0076	764	c.181 others(783): Show c.1812+3391_1812+3392insATACTTATATATATTTATATATATTT ATATATACTTATATATATTTATATATATTTATATATACTTATATATATTT ATATATATTTATATATACTTATATATATTTATATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATTTATATACTTAT ATATATTTATATATATATTTATATACTTATATATATTTATATATATATTT ATATACTTATATATATTTATATATATTTATATACTTATATATATTTATAT ATATTTATATATATATTTATATATTTACATATATATTTATATATATTTTT ATATATTTATATATTTATATATATTTATTTGTATAGTTATATATTTATAT ATATTTATATATATATATTTATATATATATTTTTATATATATATATATTT ATATATATATTTATATATATATTTATATATATTTACATATATTTATATAT TTATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATAT TTATATATTTATAAATATATTTATATTTATATGTATTTACATATATATTT ATAATTACATATTTATATATATATTTATATTTATATATATTTATATATAT TTATTTATATATATTTATATATTTACATATATATTTATATATATTTATAT ATTTACATATATATTTATATATATTTATATATTTATATATATTTTTATAT TTATATATATTTATATATATTTATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(757): Show CCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC AGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCC CCCGTGTCACCCACAGAAACACGGCCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0279 a0002c0004t0002g0279	1	348	0.0029	764	c.927 others(779): Show c.927+710_927+711insGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCCGTGTCAGCCACAGATACACGGCC CCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACG GCCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACC CACAGAAACACGGCCCCCGTGTCACCCACAGAAACACGGCCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924924	A A	ACCCAGCC others(757): Show ACCCAGCCCCTACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACAC TACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCC ACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCC CCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGC CCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCC ACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCCACACTAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0333 a0002c0002t0002g0333	1	350	0.0029	764	c.489 others(779): Show c.489-797_489-796insAGCCCCTACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGCCCCCACAC TGACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCC CACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCC CCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGC CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCC CCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGG CCCCCCACACTAACCCAGCCCCCCACACTATCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	747823	C C	CCTGCGGT others(757): Show CCTGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGG GATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGG CCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGG GATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGAGGC TCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGG GATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGG TCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCGG TGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGC GGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCG GTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGG GGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCG GTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGG GGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCG GTGGGATGGGGGGCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	764	c.18+ others(781): Show c.18+10015_18+10016insTCTCTGCGGTGGGATGGGGGGCTCTGCG GTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGG CGGGCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCG GTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGG AGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCG GTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGG CGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGC GGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGG GGGGCTCTGCGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGGCTCT GCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGAT GGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCC TGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438432	A A	AGGAGGAG others(757): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGA GGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGG GAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAG GGAGGAGGAGGGGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGGACGA GGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0022 a0022	a0022c0080 a0022c0080	a0022c0080t0001 a0022c0080t0001	a0022c0080t0001g0112 a0022c0080t0001g0112	1	252	0.0040	764	c.118 others(783): Show c.11806-565_11806-564insCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCGTCCCTCCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCCCTCCCCCTCCTCCTCCCTCCTCCCTCC TCCCCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(757): Show TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTT GGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0001 a0002c0059t0001	a0002c0059t0001g0104 a0002c0059t0001g0104	1	136	0.0074	764	c.47- others(781): Show c.47-22791_47-22790insGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBXO47_chr17_38931432_38972403	38946697	T T	TAAAAATA others(757): Show TAAAAATATATAAAAATATATACATATATAAATATAAATATATAATATAT AAATATATAAATATATAAATATATAAATATAAATATATAAAAATATATAA ATATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATAT ATAAATATATATAAATATATAAATATATAAATATATATAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATAAATATATAAATATATAAATATATATAAGTACATATAAATATATAT ACATAAATATATAAATATATAAATATATAAATATATAAATACATAATATA TATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAAA TATATATAAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA TAATATATAAATATATATAAATATATAAATATATATAAATATATAAAAAT ATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	344	0.0029	764	c.617 others(781): Show c.617-1562_617-1561insTATATATATTTATATATTTTTATATATT TATATATATTTATATATTTATATATATTTATATATTATATATATTTATAT ATATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTT ATATATATTTATATATTGTATATATTTATATATATTTATATATTGTATAT ATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTA TATATATTTATATATTATATATTTATATATAATATATATTTATATATTTT TATATATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTT ATATATTTTTATATATTTATATATTTTTTTATATATATTTTTATATTTTT AATATATTTTATATATTATATATATTTTATATTTATATATATTATGTATT TATATATTTATATATTTATATATTTATATATTTATGTATATATATTTATA TGTACTTATATATATTTATATATTTATATATTTATATATTTATATATTTA TATATTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTA TATATATTTATATATTTATATATTTATATATATTTATATATATTTATATA TTTATATATTTTTATATATTTATATATTTTTATATATTTATATATTTTTA TATATTTATATTTATATATTTATATATTTATATATTTATATATTATATAT TTATATTTATATATGTATATATTTTTATATATTTTT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(757): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAATATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATATATAAATACATAATATATATAAATATA AAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAA AAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATA TATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATAT ATAAATATATAATATATAAATATATATAAATATATAAATATATATAAATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATATAATATATAAATATATA TAAATATATAAATATATATAAATATATATAATATATAAATATATAAAAAT ATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	344	0.0029	764	c.617 others(781): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATATATTTAT ATATTGTATATATTTATATATATTTATATATTGTATATATTTATATATAT TTATATATTTATATATATTTATATATTATATATTTATATATAATATATAT TTATATATTTTTATATATATTTATATATTTTTATATATATTTATATGTGT ATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTT TTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATATAT ATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGTATA TATATTTATATGTACTTATATATATTTATATATTTATATATTTATATATT TATATATTTATGTATTTATATATTTTTATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATATTTATATATATTTATA TATTTATATATATTTATATATTTATATATTTTTATATATTTATATTTATA TATTTATATATTTATATATTTATATATTATATATTTATATTTATATATGT ATATATTTTTATATATTTTTATTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(757): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGTTGGGTGGAT GGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGGATGG ATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGATGGAC GGATGGATGGATGGGTGGACAGATGGATGGGTGGGTTGATGGATGGATGG GTGGATGGATGGATGGATGGATGGGTGGATGGGTGGATGGATGGATGGAT GGGTGGATGGATGGAGGGGTGGATGGATGGATGGATGGGTGGGTGGATGA ATGGGTGGTTGGATGGATGGATGGATGGATGGGTGGATGGGTAGATGGAT GGATGGGTGGGTGGATGGATGGCTGGGTGGATGGGTGGATGGATGGATGG GTGGGTGGATGGATGGCTGGGTGGATGGATGGGTGGATGGATGGATGGAT GGATGGATGAATGGGTGGATGGATGGATGGATGGATGGATGGGTGGATGG GTGGATGGATGGATGGGTGGGTGGATGGATGGATGGGTTGGTGGATGGAT GGATGTATGGGTGGATGTATGTATGTATGTATGTATGGGTGGGTGGATGG ATAGATGGATGGATGGATGGGCGGATGGATGGATGGGTGGGTGGGTGGAT GGATGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGG GTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGGTGGGT GGGTGGATGGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	114	0.0088	764	c.80 others(775): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATCCACC CATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCCACCCA TCCACCCAGCCATCCATCCACCCACCCATCCATCCATCTACCCATCCACC CATCCATCCATCCATCCATCCAACCACCCATTCATCCACCCACCCATCCA TCCATCCATCCACCCCTCCATCCATCCACCCATCCATCCATCCATCCACC CATCCACCCATCCATCCATCCATCCATCCACCCATCCATCCATCAACCCA CCCATCCATCTGTCCACCCATCCATCCATCCGTCCATCCACCCATCCATC CATCCATCCACCCATTCATCCATCCACCGATCCATCCGTCCACCCACCCA TCCATCCATCCATCCATCCACCGATCCATCCATCCACCCAACCATCCATC CATCCATCCATCGATCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(757): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGTTGGGTGGAT GGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGGATGG ATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGATGGAC GGATGGATGGATGGGTGGACAGATGGATGGGTGGGTTGATGGATGGATGG GTGGATGGATGGATGGATGGATGGGTGGATGGGTGGATGGATGGATGGAT GGGTGGATGGATGGAGGGGTGGATGGATGGATGGATGGGTGGGTGGATGA ATGGGTGGTTGGATGGATGGATGGATGGATGGGTGGATGGGTAGATGGAT GGATGGGTGGGTGGATGGATGGCTGGGTGGATGGGTGGATGGATGGATGG GTGGGTGGATGGATGGCTGGGTGGATGGATGGGTGGATGGATGGATGGAT GGATGGATGAATGGGTGGATGGATGGATGGATGGATGGATGGGTGGATGG GTGGATGGATGGATGGGTGGGTGGATGGATGGATGGGTTGGTGGATGGAT GGATGTATGGGTGGATGTATGTATGTATGTATGTATGGGTGGGTGGATGG ATAGATGGATGGATGGATGGGCGGATGGATGGATGGGTGGGTGGGTGGAT GGATGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGG GTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGGTGGGT GGGTGGATGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02486.hp2 HG02886.hp1 others(4): Show HG01069.hp1 HG02486.hp2 HG02886.hp1 HG03540.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0001t0002	a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0071 others(4): Show a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0071 a0001c0002t0002g0103 a0001c0003t0001g0056 a0001c0003t0002g0019 a0002c0001t0002g0095	7	114	0.0614	764	c.80 others(775): Show c.8028_*8029insCCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATCCACC CATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCCACCCA TCCACCCAGCCATCCATCCACCCACCCATCCATCCATCTACCCATCCACC CATCCATCCATCCATCCATCCAACCACCCATTCATCCACCCACCCATCCA TCCATCCATCCACCCCTCCATCCATCCACCCATCCATCCATCCATCCACC CATCCACCCATCCATCCATCCATCCATCCACCCATCCATCCATCAACCCA CCCATCCATCTGTCCACCCATCCATCCATCCGTCCATCCACCCATCCATC CATCCATCCACCCATTCATCCATCCACCGATCCATCCGTCCACCCACCCA TCCATCCATCCATCCATCCACCGATCCATCCATCCACCCAACCATCCATC CATCCATCCATCGATCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(757): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCATGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTGCCTGTGTGGACTGCTGTGT GTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGT GTGGGTGTGTGCATGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGT GTGTGACCATGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCG TGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGGACTGTGTGGTCT GTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGT ATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCT TATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGT GTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTG TGTGTGTGTGGACTGTGGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGA CTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGGACTGT GGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGT GGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGG TGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp1 HG02622.hp1 others(1): Show HG01358.hp1 HG02109.hp1 HG02622.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164	4	322	0.0124	764	c.50- others(779): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCATGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTGCCTG TGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTG TGTGGACTGTGTGGTGTGGGTGTGTGCATGTGTGTGGACTGTGTGGTGTG GGTGTGTGCGTGTGTGTGTGACCATGTGGAGTGTGTCTGTGTGCATGTGT GGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTG TGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTG TGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGT GTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGG TGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTG CTTGTGTGTGGACTGTGTGTGTGTGGACTGTGGTGTGTGTGCGTGACTGT GGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTG TGGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTG TGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGA CTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(757): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTGCCTGTGTGGACTGCTGTGT GTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGT GTGGGTGTGTGCATGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGT GTGTGACCATGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCG TGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGGACTGTGTGGTCT GTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGT ATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCT TATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGT GTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTG TGTGTGTGTGGACTGTGGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGA CTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGGACTGT GGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGT GGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGG TGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG01884.hp2 others(29): Show HG00544.hp2 HG01167.hp2 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19011.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0064 a0001c0001t0065 a0001c0001t0076 a0001c0001t0088 a0001c0001t0089 a0001c0001t0095 a0001c0001t0097 a0001c0003t0066	a0001c0001t0001g0190 a0001c0001t0002g0022 a0001c0001t0004g0172 others(29): Show a0001c0001t0001g0190 a0001c0001t0002g0022 a0001c0001t0004g0172 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0010g0014 a0001c0001t0010g0015 a0001c0001t0010g0016 a0001c0001t0010g0208 a0001c0001t0011g0186 a0001c0001t0011g0309 a0001c0001t0013g0116 a0001c0001t0018g0226 a0001c0001t0028g0098 a0001c0001t0031g0150 a0001c0001t0031g0155 a0001c0001t0032g0023 a0001c0001t0032g0312 a0001c0001t0034g0308 a0001c0001t0037g0008 a0001c0001t0041g0222 a0001c0001t0043g0307 a0001c0001t0044g0115 a0001c0001t0050g0126 a0001c0001t0064g0180 a0001c0001t0065g0206 a0001c0001t0076g0013 a0001c0001t0088g0311 a0001c0001t0089g0018 a0001c0001t0095g0211 a0001c0001t0097g0310 a0001c0003t0066g0315	32	322	0.0994	764	c.50- others(779): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTGCCTG TGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTG TGTGGACTGTGTGGTGTGGGTGTGTGCATGTGTGTGGACTGTGTGGTGTG GGTGTGTGCGTGTGTGTGTGACCATGTGGAGTGTGTCTGTGTGCATGTGT GGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTG TGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTG TGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGT GTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGG TGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTG CTTGTGTGTGGACTGTGTGTGTGTGGACTGTGGTGTGTGTGCGTGACTGT GGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTG TGGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTG TGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGA CTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(757): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGG GAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	334	0.0030	764	c.369 others(781): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGAC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(757): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGG AAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGG AGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGG AGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGA GGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	386	0.0026	764	c.-46 others(775): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTC TCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997259	G G	GGGGGGTC others(757): Show GGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATGTGCAGAGAT GGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGGTGGGGGGTCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0274 a0001c0001t0008g0274	1	375	0.0027	764	c.-22 others(775): Show c.-2210_-2209insGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCG GGGGAATGTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATGTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGGTGGGGGGTC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		411		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(757): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	375	0.0027	764	c.-20 others(775): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
LMF1_chr16_848634_975984	953545	A A	ACACCCAC others(757): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCC CACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAG CTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGT CCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	294	0.0034	764	c.503 others(779): Show c.503+811_503+812insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(757): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCC CTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCC CTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0112 a0001c0016t0001g0112	1	140	0.0071	764	c.114 others(783): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(757): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCC CTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCC CTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	140	0.0071	764	c.114 others(783): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(757): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATACATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATATATT TTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATAATT TATATATTATATATAATATGTTTATATTAAATATTATATATTATATATTA TATATTATATATTTATATTAAATATTATATATTTATATATTATATATAAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATTTATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGA ATATTATATATTTATATATTATATATAATATATTTATATTGAATATTATA TATTTATATATTATATATAATATATTTATATTGAATATTATATATTTATA TATTATATAAATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	170	0.0059	764	c.166 others(783): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATACATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATATATTTTATGATTTTATAAAATATATAATTTATAT AATTTATAAATTATATAATTTATATATTATATATAATATGTTTATATTAA ATATTATATATTATATATTATATATTATATATTTATATTAAATATTATAT ATTTATATATTATATATAATATATTTATATTAAATATTATATATTTATAT ATTATATATATTTATATTAAATATTATATATTTATATATTATTTATATTT ATATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTA TATATTTATATATTATATATAATATATTTATATTGAATATTATATATTTA TATATTATATATAATATATTTATATTGAATATTATATATTTATATATTAT ATATAATATATTTATATTGAATATTATATATTTATATATTATATATAATA TATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATA TTGAATATTATATATTTATATATTATATAAATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(757): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATATAT AATTTATATAATTTATAAATTATATAATTTATATATTATATATAATATGT TTATATTAAATATTATATATTATATATTATATATTATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATATTATA TATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTA TTTATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTA AATATTATATATTTATATATTATATATAATATATTTATATTGAATATTAT ATATTTATATATTATATATAATATATTTATATTGAATATTATATATTTAT ATATTATATATAATATATTTATATTGAATATTATATATTTATATATTATA TAAATATTATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp2 HG03041.hp1 HG06807.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0008 a0002c0008t0001 a0002c0008t0008	a0002c0008t0001g0027 a0002c0008t0008g0026 a0002c0008t0001g0027 a0002c0008t0008g0026	2	170	0.0118	764	c.166 others(783): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTT TATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATAATTT ATATATTATATATAATATGTTTATATTAAATATTATATATTATATATTAT ATATTATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAA TATTATATATTTATATATTATTTATATTTATATTAAATATTATATATTTA TATATTATATATATTTATATTAAATATTATATATTTATATATTATATATA TTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATA TTATATATTTATATATTATATATATTTATATTAAATATTATATATTTATA TATTATATATATTTATATTAAATATTATATATTTATATATTATATATAAT ATATTTATATTGAATATTATATATTTATATATTATATATAATATATTTAT ATTGAATATTATATATTTATATATTATATATAATATATTTATATTGAATA TTATATATTTATATATTATATAAATATTATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKAIN2_chr6_123798865_124830640	124687569	A A	AGTCCATA others(757): Show AGTCCATACATATACATACATGGTATATATTCCATACATATACATACATG GTATATATTCCATACATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATAT ACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCAT ATATATATACATACATGGTATATATTCCATATATATATACACATACATGG TATATATTCCATATATATATACACATACATGGTATATATTCCATATATAC ATACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATA TACATACATGGTATATATTCCAATATATACATACATGGTATATATTCCAT ATATATACATACATGGTATATATTCCATATATATATACATACATGGTATA TATTCCATATATATACATACATGGAATATATATATTCCATACATGGAATA TATATATTCCATATATACATATATATATTCCATATATACACATATATATA TTCCATATATACACATATACATGGAATATATATCTGTATATATATGGAAT ATATATATGTATATATATGAAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATTTATAATATAAATATATATTATGTATATATATTTAT ATTATAAATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	66	0.0152	764	c.474 others(783): Show c.474+29183_474+29184insGTCCATACATATACATACATGGTATA TATTCCATACATATACATACATGGTATATATTCCATACATATACATACAT GGTATATATTCCATATATATACATACATGGTATATATTCCATATATACAT ACATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATA TACATACATGGTATATATTCCATATATATATACATACATGGTATATATTC CATATATATATACACATACATGGTATATATTCCATATATATATACACATA CATGGTATATATTCCATATATACATACATGGTATATATTCCATATATACA TACATGGTATATATTCCTATATATACATACATGGTATATATTCCAATATA TACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCA TATATATATACATACATGGTATATATTCCATATATATACATACATGGAAT ATATATATTCCATACATGGAATATATATATTCCATATATACATATATATA TTCCATATATACACATATATATATTCCATATATACACATATACATGGAAT ATATATCTGTATATATATGGAATATATATATGTATATATATGAAATATAT ATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATTTATAATATAAAT ATATATTATGTATATATATTTATATTATAAATATATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGAGG others(757): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTTGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0162 a0002c0010t0002g0162	1	324	0.0031	764	c.140 others(781): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCAACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR2AG1_chr11_6778020_6796558	6791134	T T	TAGAAAAT others(757): Show TAGAAAATGTTCTCCAGTCAGAGGATGCGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATAT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA GAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATT CAAAATACAAGGAAACTTAATATATTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0002 a0002c0002t0047g0002	1	468	0.0021	764	c.51 others(775): Show c.5164_*5165insAGAGGATGCGGAGAAATAGGAACACTTTTACACT GTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGA TTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATT ACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACAT GCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAAC CAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACAT ATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCT TTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCG CAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTG AACAATGAGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAG TATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAA AATACAAGGAAACTTAATATATTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAATGTTCTCCAGTC	OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding	2/2	5165	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR6A2_chr11_6786736_6804689	6791134	T T	TAGAAAAT others(757): Show TAGAAAATGTTCTCCAGTCAGAGGATGCGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATAT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA GAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATT CAAAATACAAGGAAACTTAATATATTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	764	c.35 others(775): Show c.3590_*3591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGAATATATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCA CTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATG GTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTT TATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC AGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG GTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAAT GGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTC TCCGCATCCTCTGACTGGAGAACATTTTCT	OR6A2	ENSG00000184933.6	transcript	ENST00000641196.1	protein_coding		601		chr11	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(757): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCC CACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACC CGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATA CGGACCCCCCCACACACACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGG CCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGG ACCCCCCCACACACACTGCCCAGATACGGACCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCA CTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	292	0.0034	764	c.471 others(779): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCGGCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCC AGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCA CTTCCCAGATACGGACCCCCCCACACACACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGA TACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCACACACACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACT GCCCAGATACGGACCCCCCCACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(757): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	764	c.-26 others(775): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(757): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGA TGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTG GTGATGATGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGT GATGGTGATAATGACAGTGGTGATGATGATGGTGATGGTGGTGATGATGG TGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTG ATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGA TGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTG ATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGAT GATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGATGGTGGTGGTGA TGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATG GTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGAT AGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGA TGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGA TGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02895.hp1 others(3): Show HG02622.hp2 HG02647.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0001c0016 a0001c0025	a0001c0001t0001 a0001c0001t0023 a0001c0008t0085 others(3): Show a0001c0001t0001 a0001c0001t0023 a0001c0008t0085 a0001c0013t0001 a0001c0016t0020 a0001c0025t0044	a0001c0001t0001g0006 a0001c0001t0023g0072 a0001c0008t0085g0003 others(3): Show a0001c0001t0001g0006 a0001c0001t0023g0072 a0001c0008t0085g0003 a0001c0013t0001g0104 a0001c0016t0020g0108 a0001c0025t0044g0109	6	210	0.0286	764	c.438 others(783): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGA TGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGGTGGTGATGGT GATGGTGGTGATGATGGTGATGGTGATAATGACAGTGGTGATGATGATGG TGATGGTGGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATG GTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGG TGGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTG GTGGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGT GGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGA TGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGT GATGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGG CGATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTG GTGATGATGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133793	T T	TCTCTCCC others(757): Show TCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0056 a0002c0010t0001g0056	1	227	0.0044	764	c.23 others(775): Show c.2361_*2362insCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2081		chr19	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(757): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	308	0.0033	764	c.-75 others(783): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATAAACTAAATATATAA ATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCARA5_chr8_27864883_27997673	27918986	G G	GAGAAGGA others(757): Show GAGAAGGAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAAGAGGA GAAAGAGGAGGAAAAGGAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGG GAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGG AGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGG AGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGAGAAGA AGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAG GAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAG AAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGG AGGAGGAGAAGAAAGAAGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAG GAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGA GAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGG AGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAA AAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAG AAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAG GAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGA GGAGAGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0027 a0001c0018t0007g0028 a0001c0018t0007g0027 a0001c0018t0007g0028	2	314	0.0064	764	c.916 others(781): Show c.916+2584_916+2585insTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTC TTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCTCTTCCTCCT TCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCT TCTTTCTTCTCCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTT CTCCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTTTTCTCT TCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTC CTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCTCCTCCT TTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCT CTTCCTCCTCCTCCTCTTTCTCCTCCTCCTCCTTCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(757): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	370	0.0027	764	c.284 others(783): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(757): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGG AAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGG AGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGG AGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	350	0.0029	764	c.624 others(779): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCT CCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTC CTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCT CCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCT CCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCC CCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCT CCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar

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