Joint Open Genome and Omics Platform (JoGo)

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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
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(448): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTG GTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTT GAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTG GTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTT GATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGATG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18950.hp2 NA18971.hp2 others(4): Show NA18940.hp1 NA18950.hp2 NA18971.hp2 NA18989.hp2 NA18998.hp2 NA19011.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0171 others(4): Show a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0018g0172	7	360	0.0194	455	c.57+ others(472): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGG AGTGTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGT GTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTG TGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGT GTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(448): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAA AGGGAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	250	0.0040	455	c.225 others(472): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AAAGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NCOR2_chr12_124319415_124572612	124468397	T T	TCTTCACC others(448): Show TCTTCACCCTCATCCTCATCACCCTCATCCTCATCACCCCCCTCATCCTC ATCACCCCCCTCATCCTCATCACCCCCCTCATCCTCATCCTCATCACCCC CATCATCCTCATCACCCTCATCCTCATCACGCCCATCACCCTCATCATCC TCCTCATCACCCTCATCATCCTCATCCTCCTCACCCCCATCATCCTCATC CTTATCACCCCCATCACCCTCATCCTCATCACCCCTTCATCCTCATCCTC ATCACCATCACCCTCATCCTCATCACCCTCTTCACCCTCATCCTCATCAC CCTCATCCTTATCACCCCCCTCATCCTCATCACCCCCCTCATCCTCATCA CCCCCCTCATCCTCATCACCCCCATCATCCTCATCACCCTCATCCTCATC ACGCCCATCACCCTCATCATCCTCATCACCCTCATCATCCTCATCCTCCT CACCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0118 a0002c0118	a0002c0118t0005 a0002c0118t0005	a0002c0118t0005g0149 a0002c0118t0005g0149	1	234	0.0043	455	c.592 others(472): Show c.592-2112_592-2111insGGGGTGAGGAGGATGAGGATGATGAGGG TGATGAGGATGATGAGGGTGATGGGCGTGATGAGGATGAGGGTGATGAGG ATGATGGGGGTGATGAGGATGAGGGGGGTGATGAGGATGAGGGGGGTGAT GAGGATGAGGGGGGTGATAAGGATGAGGGTGATGAGGATGAGGGTGAAGA GGGTGATGAGGATGAGGGTGATGGTGATGAGGATGAGGATGAAGGGGTGA TGAGGATGAGGGTGATGGGGGTGATAAGGATGAGGATGATGGGGGTGAGG AGGATGAGGATGATGAGGGTGATGAGGAGGATGATGAGGGTGATGGGCGT GATGAGGATGAGGGTGATGAGGATGATGGGGGTGATGAGGATGAGGATGA GGGGGGTGATGAGGATGAGGGGGGTGATGAGGATGAGGGGGGTGATGAGG ATGAGGGTGATGAGGATGAGGGTGAAG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(448): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0132 a0001c0001t0011g0132	1	324	0.0031	455	c.140 others(472): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(448): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG AAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAG AGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGGGGAGG GGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAG GGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGA GGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGG GAGGAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0149 a0002c0002t0149	a0002c0002t0149g0330 a0002c0002t0149g0330	1	344	0.0029	455	c.154 others(472): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCC CCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCT CCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(448): Show GGGGAGGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGG GTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGA GGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAG AGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGGGGAGG GGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAG GGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGA GGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGG GAGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18998.hp2 NA18944.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0133 a0002c0002t0004 a0002c0002t0133	a0002c0002t0004g0069 a0002c0002t0133g0048 a0002c0002t0004g0069 a0002c0002t0133g0048	2	344	0.0058	455	c.154 others(472): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCC CTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTC CCCTCCTCCCCTCCTCCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(448): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0216	1	378	0.0027	455	c.-14 others(472): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOF_chr2_26452203_26483124	26476589	C C	CCCCCACC others(448): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC GTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG02738.hp2 others(6): Show HG00609.hp2 HG02135.hp2 HG02738.hp2 HG03209.hp1 NA18612.hp2 NA18942.hp2 NA18966.hp1 NA18999.hp2 NA19007.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0001c0030 a0001c0033 others(1): Show a0001c0003 a0001c0030 a0001c0033 a0015c0031	a0001c0003t0001 a0001c0030t0001 a0001c0033t0001 others(1): Show a0001c0003t0001 a0001c0030t0001 a0001c0033t0001 a0015c0031t0001	a0001c0003t0001g0074 a0001c0003t0001g0083 a0001c0003t0001g0084 others(6): Show a0001c0003t0001g0074 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0090 a0001c0030t0001g0089 a0001c0033t0001g0091 a0015c0031t0001g0087	9	330	0.0273	455	c.436 others(470): Show c.436-273_436-272insAAGGACGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476649	T T	TCCCCACC others(448): Show TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCCCTTCCCCCAC CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	330	0.0030	455	c.435 others(470): Show c.435+241_435+242insGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476589	C C	CCCCCACC others(448): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC GTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02738.hp2 HG03209.hp1 others(5): Show HG00609.hp2 HG02738.hp2 HG03209.hp1 NA18612.hp2 NA18942.hp2 NA18952.hp1 NA18966.hp1 NA19007.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0024	a0001c0015 a0002c0071 a0004c0023 others(3): Show a0001c0015 a0002c0071 a0004c0023 a0004c0089 a0005c0028 a0024c0057	a0001c0015t0001 a0002c0071t0001 a0004c0023t0001 others(3): Show a0001c0015t0001 a0002c0071t0001 a0004c0023t0001 a0004c0089t0001 a0005c0028t0001 a0024c0057t0001	a0001c0015t0001g0093 a0001c0015t0001g0100 a0002c0071t0001g0201 others(5): Show a0001c0015t0001g0093 a0001c0015t0001g0100 a0002c0071t0001g0201 a0004c0023t0001g0238 a0004c0089t0001g0153 a0005c0028t0001g0247 a0005c0028t0001g0259 a0024c0057t0001g0252	8	284	0.0282	455	c.267 others(472): Show c.2677-273_2677-272insAAGGACGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PCDH11Y_chrY_4995296_5747224	5525230	G G	GGGAGGAG others(448): Show GGGAGGAGGAGGGGGGAGGAGCGGAGGGGGAGGAGGAGGGGGAGGAGGAG GGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGG AGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAG GAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGA GGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGG AGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGG GGGTAGGAGGAGGGAGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	115	0.0087	455	c.305 others(476): Show c.3052+23989_3052+23990insGAGGAGCGGAGGGGGAGGAGGAGG GGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGG CAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGG GGGGAGGAGGAGGAGGGGGAGGAGGAGGGGAGGAGGGGGGAGGAGGAGGA GGGGGAGGAGGAGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGCGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAG GAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGA GGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTG GGAGGTGGAGGGGGTAGGAGGAGGGAGGGGAGGAGGGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGTGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525240	G G	GGGGGGAG others(448): Show GGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGAGGAGGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGAGGAGGGGAGGAGGAGGGGG AGGGGAGGAGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAG GGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGGAGGGGGAGGAGGACG GGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGA GGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGA GGGGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGTGA GGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	115	0.0087	455	c.305 others(476): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GAGGAGGGGAGGAGGAGGGGGAGGGGAGGAGGGGGGAGGAGGCGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAG GGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAG GTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGAGGAGTGAGGAGGAGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp2 HG01070.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0216 a0001c0001t0001g0097 a0001c0001t0001g0216	2	262	0.0076	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCTATTCTGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	262	0.0038	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp1 others(32): Show HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG02056.hp2 HG02129.hp1 HG02300.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG02976.hp1 HG03490.hp1 HG03704.hp1 HG03927.hp2 NA18612.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18989.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19060.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0007 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0005t0001 a0002c0007t0002 a0003c0014t0001	a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0063 others(32): Show a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0102 a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0205 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0261 a0001c0001t0006g0074 a0001c0002t0001g0094 a0001c0002t0001g0185 a0001c0002t0002g0082 a0001c0002t0002g0099 a0001c0003t0003g0069 a0001c0003t0003g0183 a0001c0005t0001g0046 a0002c0007t0002g0179 a0003c0014t0001g0034	35	262	0.1336	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02818.hp2 HG01255.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0011 a0001c0005t0002g0260 a0001c0001t0002g0011 a0001c0005t0002g0260	2	262	0.0076	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02257.hp2 others(6): Show HG01884.hp2 HG01891.hp2 HG02257.hp2 HG02647.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0010	a0001c0001t0001g0129 a0001c0001t0003g0028 a0001c0002t0001g0235 others(6): Show a0001c0001t0001g0129 a0001c0001t0003g0028 a0001c0002t0001g0235 a0001c0002t0003g0108 a0001c0002t0003g0122 a0001c0002t0003g0127 a0001c0002t0005g0056 a0001c0002t0006g0017 a0001c0003t0010g0002	9	262	0.0344	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(448): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	262	0.0038	455	c.129 others(472): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(448): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCT CCCAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0031 a0015c0021t0001g0031	2	436	0.0046	455	c.111 others(472): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTC TCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEC_chr8_143910153_143944597	143928395	A A	AGCGGCGG others(448): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGC TGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGG AAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAGACAGCGG GTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTG CTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAG GAAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0083 a0083	a0083c0045 a0083c0045	a0083c0045t0002 a0083c0045t0002	a0083c0045t0002g0066 a0083c0045t0002g0066	1	358	0.0028	455	c.326 others(472): Show c.3261-404_3261-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCT CTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAA CCAGCACATGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGG TCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCG CCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACA GAACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(448): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGGTTT GCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGA GTAGAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	358	0.0028	455	c.326 others(472): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCT GTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928395	A A	AGCGGCGG others(448): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGC TGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGG AAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAGACAGCGG GTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTG CTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAG GAAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0076 a0076	a0076c0038 a0076c0038	a0076c0038t0002 a0076c0038t0002	a0076c0038t0002g0073 a0076c0038t0002g0073	1	302	0.0033	455	c.321 others(472): Show c.3219-404_3219-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCT CTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAA CCAGCACATGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGG TCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCG CCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACA GAACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(448): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGGTTT GCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGA GTAGAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	302	0.0033	455	c.321 others(472): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCT GTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(448): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0174 a0001c0004t0010g0174	1	210	0.0048	455	c.387 others(474): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(448): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCACTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	210	0.0048	455	c.387 others(474): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCACTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(448): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	210	0.0048	455	c.387 others(474): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(448): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGT GGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTG GTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	374	0.0027	455	c.-46 others(466): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PXDN_chr2_1626887_1749515	1707290	G G	GAGAGCAC others(448): Show GAGAGCACACTTCAGTGTTCACCAATCAGCTCTAAGCATCGCCTGCCCCA CTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAA GCATCGCCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTTC ACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGAG CACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAAT AATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATC ACCTGCCCCACTAATAATACAATCCGAGAGCATGCTTCACTGTTCACCAA TCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCTGAGAGCACGC TTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAATTATAC AATCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(31): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG02135.hp2 HG02293.hp1 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03654.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19079.hp1 NA19085.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0026 a0001c0033 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0002t0003 a0001c0003t0002 a0001c0026t0001 a0001c0033t0001 a0012c0021t0002	a0001c0001t0001g0093 a0001c0001t0001g0173 a0001c0001t0001g0189 others(31): Show a0001c0001t0001g0093 a0001c0001t0001g0173 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0002g0192 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0262 a0001c0001t0031g0215 a0001c0002t0003g0026 a0001c0002t0003g0097 a0001c0002t0003g0112 a0001c0002t0003g0169 a0001c0002t0003g0187 a0001c0002t0003g0217 a0001c0003t0002g0012 a0001c0026t0001g0261 a0001c0033t0001g0216 a0012c0021t0002g0251	34	322	0.1056	455	c.201 others(474): Show c.201-14157_201-14156insTAGATTGTATAATTAGTGGGGCAGGT GATGTTTAGAGCTGATCGCTGAACACTGAAGCGTGCTCTCAGATTGTATT ATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCATG CTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGT GAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGC TTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAG TGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTC GGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAGCTGATTGGTGAACA GTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGCGATGCTTAGA GCTGATTGGTGAACACTGAAGTGTGCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(448): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATTTATTTAGTTTATAAATATATATTTAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	308	0.0033	455	c.-75 others(474): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATA TAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAA TATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAA TATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAA TATGTAAATATATATTTATAAACTAAATAAATAAATATATATTTATAAAC TAAATAAATAAATATATGTTTATAAACTAAATATATAAATATATGTTTAT AAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGT TTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SBNO2_chr19_1102638_1179268	1142073	G G	GCCTCCCT others(448): Show GCCTCCCTCCTCATGATCAACCCTCACTCAGTGACCTCCCTCATGATCAA CCCTCCCCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAATGACCTC CCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCT CCCTCAATGACCTCCCTCCCCACGATCAATCCTCACTCAATGACCTCCCT CCTCATGATCAACCCTCCCTCAATGACCTCCCTCACGATCAACCCTCCCC TCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCCC CACGATCAACCCTCACTCAACGGCCTCCCTCCCCACGATCAACCCTCACT CAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCC AAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATCAACCCTCCCCT CAATGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0089	1	203	0.0049	455	c.279 others(472): Show c.279+5235_279+5236insTCATTGAGGGGAGGGTTGATCATGGGGA AGGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAG GGAGGCCGTTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCATGAGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGA GGTCATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGAT TGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGAGGAGGGAG GCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGGAGGGTTG ATCGTGAGGGAGGTCATTGAGGGGAGGGTTGATCATGAGGGAGGTCACTG AGTGAGGGTTGATCATGAGGAGGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTATCT others(448): Show GTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTG TATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTT TTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTT TTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCT CTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCT CTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTGTCT ATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTG TCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTTTTTCTCT GTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTC TGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01981.hp2 HG01257.hp1 HG01257.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0069 a0001c0001t0110 a0001c0001t0027 a0001c0001t0069 a0001c0001t0110	a0001c0001t0027g0156 a0001c0001t0069g0102 a0001c0001t0110g0153 a0001c0001t0027g0156 a0001c0001t0069g0102 a0001c0001t0110g0153	3	220	0.0136	455	c.-43 others(466): Show c.-4313_-4312insTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTT CTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTC TCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTC TCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCT GTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCT CTCCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCTC TTTCTCTCCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAAGA others(448): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCC GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT TCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAG ACACGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0272 a0001c0001t0017g0272	1	330	0.0030	455	c.970 others(474): Show c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGAAG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA GGACAGGCCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1073218	C C	CCCCCAGT others(448): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	1	118	0.0085	455	c.224 others(472): Show c.2241+414_2241+415insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGT GCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(448): Show GGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	373	0.0027	455	c.115 others(472): Show c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCTCCGCCCTGCCCCTCCAGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(448): Show ACACACCACACATACACACACACACACATACACACACAAACACACACACA TACACACCACACACACATACCCACACACACACATACATACACACACACCA CACACCCCCACACACATACACACACACAAAAATACACATACACACAAACA CACAAATACACACATACACACAAAAATACACATACACACAAACACACAAA TACACACACAGAAATACACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACACACAAATA CACACACATACATAACACACCCACACACATACACACACAATACACATACA CACAAACACACAAATACACACATACACATACAAAAATACACACATACACA CACACAAATACACACATACACACACATACCCACACACACACATACACACA CATACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(14): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00733.hp1 HG01109.hp2 HG01496.hp2 HG02004.hp1 HG02056.hp2 HG02109.hp2 HG02559.hp1 HG02615.hp2 HG03491.hp2 HG03831.hp1 HG04115.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0015 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001 a0003c0015t0002 a0005c0013t0002	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0089 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0002g0060 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0065 a0001c0002t0002g0077 a0002c0003t0001g0099 a0002c0003t0001g0103 a0002c0004t0001g0098 a0003c0015t0002g0094 a0005c0013t0002g0072	17	150	0.1133	455	c.107 others(476): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTT TGTATGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTGTGTGT GTATGTGTGTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTG TGTGTATGTGTGTTTGTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGG TGTGTGTGTGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTA TGTGTATTTTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTA TTTTTGTGTGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTAT GTGTGTGTGTGGGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTG TGTATGTGTGTGTGTGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246071871	G G	GCTGTGCT others(448): Show GCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCACTGTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGAT TCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGG GAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAG TTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTC CTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGG ATGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTC ACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCAC TGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGC TTTCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0124 a0002c0007t0001g0124	1	150	0.0067	455	c.532 others(476): Show c.532-141935_532-141934insTGGAAAGCACACGAATCCCTCCCC AGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATC CCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCAC ACGAATCCCTCCCCAGAACTAACACGATGCATCCACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAC ACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAG AACTAACAGGAAGCATCCACAGTGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1343273	T T	TCCCCTGT others(448): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0003 a0009 a0003 a0009	a0003c0008 a0009c0012 a0003c0008 a0009c0012	a0003c0008t0002 a0009c0012t0001 a0003c0008t0002 a0009c0012t0001	a0003c0008t0002g0072 a0009c0012t0001g0066 a0003c0008t0002g0072 a0009c0012t0001g0066	2	190	0.0105	455	c.148 others(476): Show c.1489-23966_1489-23965insCGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA6_chr19_51688330_51710190	51704885	A A	AGCCCCTC others(448): Show AGCCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTCCTTCCACCC GCAGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTG TCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGCC CCTGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCTTCCA CCCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAG GAGTCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGG CCCCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCC TCCCTCAGACCCAGGTTTCCATCCAGGCCCCGGACCCTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02074.hp2 HG02083.hp2 others(24): Show HG00544.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18950.hp2 NA18957.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18986.hp2 NA18998.hp2 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19059.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0019 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066	27	416	0.0649	455	c.942 others(470): Show c.942-184_942-183insGGAGTCCAGGCCCCCAGTCCTTCCACCCGC AGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTGTC CAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGCCCC TGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCTTCCACC CGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAGGA GTCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGCC CCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTC CCTCAGACCCAGGTTTCCATCCAGGCCCCGGACCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCTGGCCCCTCCTCCCTCAGATCCA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPATA5_chr4_122918078_123324433	123016144	T T	TGGCTGGC others(448): Show TGGCTGGCTGGGCCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGGCCCTCACCTCCCGGATGGGGCGGCTGGCCGGACGCGGGGCTGAC AACCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCTGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCTGGATGGG GCGGCTGGCCGGTGGGGGGGGGGGACTGACCCCCCCCACCTCCCTCCCGG ACGGTGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0161	1	262	0.0038	455	c.187 others(476): Show c.1870-12035_1870-12034insTGGGCCGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGGCCCTCACCTCCCGGATGGGGCGGCTG GCCGGACGCGGGGCTGACAACCCCACCTCCCTCCCGGTCGGGGCGGCTGG CCTGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCC ACCTCCCTCCTGGATGGGGCGGCTGGCCGGTGGGGGGGGGGGACTGACCC CCCCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123016144	T T	TGGCTGGC others(448): Show TGGCTGGCTGGGCCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGGCCCTCACCTCCCGGATGGGGCGGCTGGCCGGACGCGGGGCTGAC AACCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCTGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGTGGGAGGGGGGGACTGACCCCCCCCACCTCCCTCCCGG ACGGTGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGA TGGGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0130 a0001c0001t0070g0130	1	262	0.0038	455	c.187 others(476): Show c.1870-12035_1870-12034insTGGGCCGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGGCCCTCACCTCCCGGATGGGGCGGCTG GCCGGACGCGGGGCTGACAACCCCACCTCCCTCCCGGTCGGGGCGGCTGG CCTGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGTGGGAGGGGGGGACTGACCC CCCCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123016144	T T	TGGCTGGC others(448): Show TGGCTGGCTGGGCCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGGCCCTCACCTCCCGGATGGGGCGGCTGGCCGGACGCGGGGCTGAC AACCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCTGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGTGGCCGGACAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGTGGGAGGGGGGACTGACCCCCCCCACCTCCCTCCCGG ACGGTGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGA TGGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0246 a0001c0001t0012g0246	1	262	0.0038	455	c.187 others(476): Show c.1870-12035_1870-12034insTGGGCCGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGGCCCTCACCTCCCGGATGGGGCGGCTG GCCGGACGCGGGGCTGACAACCCCACCTCCCTCCCGGTCGGGGCGGCTGG CCTGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGACAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGTGGGAGGGGGGACTGACCC CCCCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(448): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAAGCGGGA ACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAAGG GGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAA GCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	251	0.0040	455	c.34 others(464): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCCGTTCCCGCTT CCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCT CCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(448): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTCCTGT ATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTC CTCCCTCCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATCTTCCCC TCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCT CCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCC TGTATC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0173 a0002c0003t0014g0173	1	202	0.0050	455	c.262 others(474): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCTCCCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATCTTCC CCTCCTCCTCCTCCTGTATCTCCTCCCTCCTCCTCCTCCTGTATCTCCTC CCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCT CCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCC TGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTG TATCTCCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(448): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02155.hp1 NA18950.hp2 others(2): Show HG00558.hp1 HG02155.hp1 NA18950.hp2 NA18965.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0019g0205	5	268	0.0187	455	c.75 others(466): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(448): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCA CAACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCAC AGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAG GCCCCA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19087.hp1 NA18994.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0090 a0001c0002t0001g0091	2	392	0.0051	455	c.228 others(474): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(448): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCA CAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG GCCCCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	392	0.0026	455	c.228 others(474): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(448): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03041.hp2 HG01106.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0063 a0001c0002t0004g0009 a0001c0001t0003g0063 a0001c0002t0004g0009	2	94	0.0213	455	c.129 others(476): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(448): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCAACATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	94	0.0106	455	c.129 others(476): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGTTGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(448): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0043 a0001c0007t0019g0043	1	94	0.0106	455	c.129 others(476): Show c.1299+34043_1299+34497dupCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113816055	T T	TATGGGGA others(448): Show TATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTCACTGG TCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTC TGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTCGGGG AGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTG CTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTTGCAGCGTGTT CTGGATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGG GGAGGCAAGCGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCAC TGCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTG TTCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0135 a0001c0009t0135	a0001c0009t0135g0014 a0001c0009t0135g0014	1	260	0.0039	455	c.41 others(466): Show c.4162_*4163insGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTC GGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTC ACTGGTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT CGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGT CACTGCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTTGCAGC GTGTTCTGGATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTT TTCGGGGAGGCAAGCGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCA GTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCA GCGTGTTCTGGATGGGGAGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4163	INFO_REALIGN_3_PRIME	chr13	TogoVar

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