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
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(645): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGAT GGGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCAGTGATGGTGGTGA TGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0207 a0001c0001t0018g0207	1	292	0.0034	652	c.21 others(667): Show c.21-379_*21-378insATCACCATCACCATCACCACCACCACCACC ATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCACCA TCACCATCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ATCACCACCACCATCACCACCATCATCACCATCACCACCACCACCACCAC CACCATCACCATCACCACCACCATCACCACCATCACCGTCACCACCATCA CCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCACC ACCATCACCACCATCATCACTATCACCACCATCACCACCATCATCACCAC CACCACCACCACCATCACCACCACCATCACCACCATCACCATCACCACCA TCATCACCACCACCGTCACCCCCATCATTACCATCACCACCACCACCACC ACCACCATGACCACCACCACCACCACTCTCACCATCATCATCACTGTCAC CACCACCACCACCACCACCACCATCACTACCATCGTCACCATCACCACTA CCTCCATCTCCACCACTACCACCCCCACCACCACTCTCACCACCATCACC ATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(645): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGA GTGGTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGG GGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATA GTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCGGTGA TGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGGTGGTGGT GAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	292	0.0034	652	c.21 others(667): Show c.21-379_*21-378insATCACCACCACCACCATCACCACCACCACC ATCATCACCATCACCACCACCATCACCACCATCACCACCATCATCACCAT CACCACCACCACCATCACCACCATCACCGCCACCATCACCATCACCATCA CCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCACCAC CACCACCATCACCATCACCACCACCATCACCACCATCACCGTCACCACCA TCACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ACCACCATCACCACCATCATCACTATCACCACCATCACCACCATCATCAC CACCACCACCACCACCATCACCACCACCATCACCACCATCACCATCACCA CCATCATCACCACCACCGTCACCCCCATCATTACCATCACCACCACCACC ACCATGACCACCACCACCACCACTCTCACCATCATCATCACTGTCACCAC CACCACCACCACCACCACCACCATCACTACCATCGTCACCATCACCACTA CCTCCATCTCCACCACTACCACCCCCACCACCACTCTCACCACCATCACC ATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	404061	T T	TGGGGGGG others(645): Show TGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGG GGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCC TGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGG TGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGG GGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGC CCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGG GGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGG GGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGG CCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAG GGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGG GGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGG GGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCG AGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0034 a0001c0001t0042g0034	1	322	0.0031	652	c.30 others(663): Show c.3034_*3035insCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCC CCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCA CACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGG CAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTC CCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCC CACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGG GGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGT CCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCC CCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCG GGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCC GTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCC CCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCT CGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCC CCGTCCCCCCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1383		chr19	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(645): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGG CTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAGG TTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTTC ACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTGC CTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	406	0.0025	652	c.156 others(667): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAGAGTGC AGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAGGTTCAAGGAA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACC ACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTTCACCATCTTG GCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(645): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTT TCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCC TCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	270	0.0037	652	c.162 others(673): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCT CCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTC TTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134729685	C C	CGTGTGTG others(645): Show CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG03098.hp1 HG02486.hp2 HG02647.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0006 a0001c0007t0015 a0001c0007t0023 a0001c0005t0006 a0001c0007t0015 a0001c0007t0023	a0001c0005t0006g0040 a0001c0007t0015g0200 a0001c0007t0023g0232 a0001c0005t0006g0040 a0001c0007t0015g0200 a0001c0007t0023g0232	3	272	0.0110	652	c.925 others(667): Show c.925-432_925-431insCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978284	A A	ATATATAT others(645): Show ATATATATATTTATATATATTTATATATATATTTATATATATTTATATTT ATATATATATTTTTATATATTTTTATATATTTATATATTTATATATATAT TTATATATATATTTATATATATTTTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTTTATATATATATTTATATATATTTATAT ATATATATTTATATATATTTATATATATTTATATATATATATTTATATAT ATATTTTTATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATATTTATATATATATTTATAT ATATTTATATATATATATTTATATATATATATATATATATTTATATATAT TTATATATATATATATATTTATATATATTTATATATATATATTTATATAT ATATTTATATATATTTATATATATATATTTATATATATTTATATATATAT TTCTATATATTTATATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATTTATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATTTATATAT ATT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19083.hp1 NA19083.hp2 NA18990.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0006g0003 a0001c0001t0007g0004 a0001c0001t0001g0041 a0001c0001t0006g0003 a0001c0001t0007g0004	3	94	0.0319	652	c.-2+ others(669): Show c.-2+56282_-2+56283insAATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA AATATATATATATAAATATATAGAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATATATAAATA TATATAAATATATATATATATATAAATATATATAAATATATATATATATA TATATAAATATATATATATAAATATATATAAATATATATATAAATATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATATATAAAAATATATATATAAATATATATATATAAATA TATATAAATATATATAAATATATATATATAAATATATATAAATATATATA TAAAAATATATATAAATATATATATAAATATATATATAAATATATATATA AAAATATATATAAATATATATATAAATATATATATAAATATATAAATATA TAAAAATATATAAAAATATATATATAAATATAAATATATATAAATATATA TATAAATATATATAAATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716227	A A	ATGGTGGG others(645): Show ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0001g0104 a0001c0001t0001g0138	2	170	0.0118	652	c.86- others(665): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCG TGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBN2_chr5_128252909_128543245	128539822	T T	TCATATAT others(645): Show TCATATATCATATATATGATATATATGATAGATCATATATTATATCATAT ATATCATATATATGAGATCATATATGATCTATCATATATATCATATCATA TATATCATATCATTATCATATATCACATATATCATATATCACATATATCA CATATATCATATATCACATATATCACATATATCATATATCACATATATCA CATATATCATATATATCATATATCACATATATCATATATATCATATATTA TATATATCATATATCATATATATCATATATATCATATATATCATATATAT CATATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATATTATATATTATATATCATATATATCATATATATTATATAT TATATATCATATATATCATATATATTATATATCATATATCATATATATCA TATATATTATATATCATATATCATATATATCATATATATTATATATCATA TATCATATATCATATATATCATATATATCATATATCATATATCATATATA TCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0049 a0001c0009t0002g0049	1	236	0.0042	652	c.-22 others(663): Show c.-2220_-2219insTGATATATATGATATATGATATATGATATATATG ATATATATGATATATGATATATGATATATAATATATATGATATATATGAT ATATGATATATAATATATATGATATATATGATATATGATATATAATATAT ATGATATATATGATATATAATATATAATATATATGATATATATGATATAT AATATATAATATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATATGATATATGATATATATAATATATGATATATATGATATATGTGATAT ATGATATATATGATATATGTGATATATGTGATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGTGATATATGATATATGTGATAT ATGATAATGATATGATATATATGATATGATATATATGATAGATCATATAT GATCTCATATATATGATATATATGATATAATATATGATCTATCATATATA TCATATATATGATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1578		chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	ACACCACC others(645): Show ACACCACCCCCAACACCACCCCACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCATCCCCCACACCACCCCCAACACCACCCCCAACACCACCC CAACACCATCCCCAACACCACCCCAACACCATCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATC CCCAACACCCCAATAACCCCCCAACACCACCCCCAACACCACCACAACAC CATCCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCC CAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACA CCACCCCAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCC CCAACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCC ACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACA CCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	652	c.27 others(663): Show c.2795_*2796insCACCACCCCCAACACCACCCCACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCA CCCCCAACACCACCCCAACACCATCCCCAACACCACCCCAACACCATCCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACC ACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCCA ACACCACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCA CCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACCATCCCCC ACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACCA TCCCCCACACCACCCCCAACACCACCCCCAACACCATCCCCCACACCACC CCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(645): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATAAATATATATATAAATATATATATTTATATATA AATATATATATTTATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATATTTATATTTACAAATATATATATT TATATATATATTTATATTTATATATATTTATATTTATATATATATATATA AATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATA TAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18982.hp1 NA18968.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0144 a0001c0001t0001g0101 a0001c0001t0001g0144	2	208	0.0096	652	c.-97 others(669): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATAAATATATATATAAATATATATATTT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAA ATATATATATTTATATATATAAATATATATATATTTATATTTACAAATAT ATATATTTATATATATATTTATATTTATATATATTTATATTTATATATAT ATATATAAATATATATTTATGTATATTTATATATAAATATAAATATATAT TTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(645): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19000.hp2 NA18986.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0023 a0003c0003 a0003c0023	a0003c0003t0002 a0003c0023t0008 a0003c0003t0002 a0003c0023t0008	a0003c0003t0002g0254 a0003c0023t0008g0253 a0003c0003t0002g0254 a0003c0023t0008g0253	2	268	0.0075	652	c.-28 others(663): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTATATTAATATA TAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTATATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(645): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18956.hp2 NA18964.hp2 others(4): Show NA18950.hp2 NA18956.hp2 NA18964.hp2 NA18977.hp2 NA19002.hp2 NA19057.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0115 a0002c0002t0001g0116 others(4): Show a0002c0002t0001g0068 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120	7	155	0.0452	652	c.488 others(667): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG TGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTG TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(645): Show GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19057.hp2 HG00735.hp2 NA19057.hp2	a0002 a0008 a0002 a0008	a0002c0037 a0008c0008 a0002c0037 a0008c0008	a0002c0037t0003 a0008c0008t0001 a0002c0037t0003 a0008c0008t0001	a0002c0037t0003g0133 a0008c0008t0001g0021 a0002c0037t0003g0133 a0008c0008t0001g0021	2	155	0.0129	652	c.488 others(667): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(645): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGG GATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGGA TGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0248 a0001c0005t0018g0248	1	310	0.0032	652	c.199 others(669): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGTGAA GGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATAGGTGGATGA ATGGATGAATAGATGGATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(645): Show GGATGGAGGGACGGATGGATGAATGGGTATGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGG GATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGGA TGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0210 a0001c0004t0002g0210	1	310	0.0032	652	c.199 others(669): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA TGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGTGAA GGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATAGGTGGATGA ATGGATGAATAGATGGATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(645): Show CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCC CCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0029 a0029	a0029c0059 a0029c0059	a0029c0059t0017 a0029c0059t0017	a0029c0059t0017g0280 a0029c0059t0017g0280	1	282	0.0036	652	c.258 others(669): Show c.2584-107_2584-106insACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCCC TCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCC TCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(645): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTG TAAATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTA TATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATAT GTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTT TGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATA TATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATA TATAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAA TATATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATA TATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTG TAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATATAC ATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02027.hp1 others(7): Show HG00609.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02896.hp2 HG02970.hp2 NA18952.hp1 NA18964.hp2 NA19055.hp1 NA19064.hp1	a0005 a0038 a0040 a0005 a0038 a0040	a0005c0006 a0038c0054 a0040c0033 a0005c0006 a0038c0054 a0040c0033	a0005c0006t0001 a0005c0006t0002 a0038c0054t0008 others(1): Show a0005c0006t0001 a0005c0006t0002 a0038c0054t0008 a0040c0033t0001	a0005c0006t0001g0015 a0005c0006t0001g0019 a0005c0006t0001g0023 others(7): Show a0005c0006t0001g0015 a0005c0006t0001g0019 a0005c0006t0001g0023 a0005c0006t0001g0027 a0005c0006t0001g0029 a0005c0006t0002g0017 a0005c0006t0002g0022 a0005c0006t0002g0024 a0038c0054t0008g0128 a0040c0033t0001g0010	10	330	0.0303	652	c.197 others(671): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATATTTACAAAATATATATATTTATA TATTTACAAAATATATATATTTTTATATATTTACAACATATATTTTTATA TATTTACAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTA TATATTTACAAAATGTATATATTTACAAAATATATATACATATTTACAAA ATATATATATTTACAAAATATATATACATATTTACAAAATATATATATTT ACTATATATATTTACAAAATATATATATAATTTACAATATATATATAATT CACAAAATATATATTTATATATATTTACAATATATATTTACAAAATATAT ATATATTTACAAAATATATATTTATATATTTACAAAACATATATATATTT ATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATAT ATTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACAT ATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(645): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAGAATATAATTATATAATATATAATTATATTCTATAGAATA TAATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATA TAATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATA TTATATAATTATAATATAATTATATAATATAATTATATTATATATAATTA TATTAAATATATTATATAATATATAATTATATTATATATTATATAATATA TAATTATAATTATATATTATATAATATATAATTATATTATATATTATATA ATATATAATTATATTATATAATATATAATATATAATATAATTATATATTA TATAATATATAATTATATTATATATTATAATACATTTAATATAATTATAT TATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATA ATATATTATATATAATTATATTATAACATATTATATATAATTATATTATA GATCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTA TATTCTATATATAATTATATATAATATAATTATATTCTATATAGAATATA ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	652	c.-32 others(663): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATTATATTATATATTATATATT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATTATAATTATATATTATATAATATATAATATAATTATATA TTATATAATATATTTAATATAATTATATATAATATAATTATATTATATAA TTATATTATAATTATATAATATAGAATATAATTATATATTATATAATTAT ATTCTATAGAATATAATTATATATTATATAATTATATTCTATAGAATATA ATTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATA ATTATATTCTATATAGAATATAATTATATATTATATAATTATATTCTATA TAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(645): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGT ATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTA TATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0069 a0002c0008t0004g0069	1	362	0.0028	652	c.-75 others(671): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACACAG TATACATACTGTGTATATATACACAGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397669	T T	TGTGGGGG others(645): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	356	0.0028	652	c.91+ others(665): Show c.91+365_91+366insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(645): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGT TGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTG GGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAG GGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGA GGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAG GGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp1 others(103): Show HG00140.hp1 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18948.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19070.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0002t0003 a0001c0002t0017 a0001c0003t0009 a0001c0003t0028 a0001c0007t0041	a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0066 others(103): Show a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0002g0134 a0001c0001t0002g0144 a0001c0001t0002g0158 a0001c0001t0002g0172 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0140 a0001c0001t0004g0010 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0106 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0005g0029 a0001c0001t0005g0091 a0001c0001t0005g0097 a0001c0001t0005g0173 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0121 a0001c0001t0006g0145 a0001c0001t0006g0169 a0001c0001t0007g0051 a0001c0001t0007g0077 a0001c0001t0007g0084 a0001c0001t0009g0120 a0001c0001t0010g0053 a0001c0001t0011g0068 a0001c0001t0011g0112 a0001c0001t0013g0060 a0001c0001t0013g0062 a0001c0001t0013g0167 a0001c0001t0014g0052 a0001c0001t0014g0054 a0001c0001t0014g0080 a0001c0001t0015g0099 a0001c0001t0015g0104 a0001c0001t0015g0149 a0001c0001t0016g0101 a0001c0001t0019g0153 a0001c0001t0026g0006 a0001c0001t0035g0012 a0001c0001t0038g0032 a0001c0001t0042g0011 a0001c0001t0043g0108 a0001c0001t0044g0195 a0001c0001t0045g0057 a0001c0001t0046g0142 a0001c0001t0049g0160 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0017g0170 a0001c0003t0009g0117 a0001c0003t0028g0137 a0001c0007t0041g0105	106	196	0.5408	652	c.321 others(671): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCC CTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCC TCCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCCTCCCCA CTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCC CCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCC TCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(645): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18986.hp1 NA19000.hp1 NA18967.hp1 NA18986.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0050 a0002c0002t0002g0283 a0002c0002t0001g0050 a0002c0002t0002g0283	3	422	0.0071	652	c.195 others(669): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATATACTA ACTATATTAATATAGTTACTATATATTAATATAGTTACTATATATTAATA TACTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NTM_chr11_131365615_132341822	131680400	C C	CGTCTGTG others(645): Show CGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATG TGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTAAG TGCCTGTGTGTGTGTCTGTGTAGGCATGCATGCCTCTGTGTCTGTGTGTG AGATCATGCCCGTGTCTGTGTCTGTGAGTGCCTCTGTGTGTGTGTGTGGG TCTGTGTAGGCATGTGTGCCTCTGTATCTGTGTGTGAGATCATGGCTGTG TCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGCTTCTGTGTAGGCATGTG TGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTG TGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAG ATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTTTCTG TGAGTGCCTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTC TGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGAGTGCCTGTGTGTGTG TGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	86	0.0116	652	c.83- others(671): Show c.83-231120_83-231119insGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGT GAGATCATGCCTGTGTCTGTGTCTGTAAGTGCCTGTGTGTGTGTCTGTGT AGGCATGCATGCCTCTGTGTCTGTGTGTGAGATCATGCCCGTGTCTGTGT CTGTGAGTGCCTCTGTGTGTGTGTGTGGGTCTGTGTAGGCATGTGTGCCT CTGTATCTGTGTGTGAGATCATGGCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGTGCGCTTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGT GCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGT GTGTGAGATCATGCCTGTGTCTGTTTCTGTGAGTGCCTGTGTGTGTGTGT GTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT GCCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGTAGGCATGTGT GCCTCTGTGTCTGTGTGTGAGATCAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(645): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGGCAC CGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAGTGA CTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGACCG TGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTGACT TAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACTGTG TGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGACTTA ACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGTGTG GTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACTTAA CGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTGTGG TGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0161 a0003c0002t0001g0161	1	399	0.0025	652	c.125 others(667): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACACACA CAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTTAAG TCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACACAG TGCCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PCDH15_chr10_53797771_54806231	54332298	A A	ATATTATT others(645): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTACTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01175.hp2 others(3): Show HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG02109.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0009 a0013	a0001c0001 a0004c0004 a0007c0010 others(2): Show a0001c0001 a0004c0004 a0007c0010 a0009c0008 a0013c0014	a0001c0001t0001 a0004c0004t0005 a0007c0010t0001 others(2): Show a0001c0001t0001 a0004c0004t0005 a0007c0010t0001 a0009c0008t0001 a0013c0014t0001	a0001c0001t0001g0022 a0004c0004t0005g0024 a0004c0004t0005g0025 others(3): Show a0001c0001t0001g0022 a0004c0004t0005g0024 a0004c0004t0005g0025 a0007c0010t0001g0068 a0009c0008t0001g0048 a0013c0014t0001g0012	6	102	0.0588	652	c.595 others(669): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATTATATAATAT AGATTATATAATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATATATTATATTATATTATATATAATAATA TATAATATAGATTATATATATATTATATATAATAATATATAATATAGATT ATATATATATTATATATAATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332298	A A	ATATTATT others(645): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTACTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01261.hp2 others(1): Show HG01081.hp2 HG01175.hp1 HG01261.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0001 a0004c0004 a0008c0016 others(1): Show a0001c0001 a0004c0004 a0008c0016 a0009c0019	a0001c0001t0001 a0004c0004t0001 a0008c0016t0001 others(1): Show a0001c0001t0001 a0004c0004t0001 a0008c0016t0001 a0009c0019t0001	a0001c0001t0001g0062 a0004c0004t0001g0022 a0008c0016t0001g0012 others(1): Show a0001c0001t0001g0062 a0004c0004t0001g0022 a0008c0016t0001g0012 a0009c0019t0001g0045	4	94	0.0426	652	c.595 others(669): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATTATATAATAT AGATTATATAATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATATATTATATTATATTATATATAATAATA TATAATATAGATTATATATATATTATATATAATAATATATAATATAGATT ATATATATATTATATATAATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(645): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGACAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTAT CGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	436	0.0046	652	c.-26 others(663): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATA TGTCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(645): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCT CCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCAC CCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01496.hp1 HG01106.hp2 HG01255.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0153 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0153	3	360	0.0083	652	c.37 others(663): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTT ACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCC CCCTGCACCTCCCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3247		chr5	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(645): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG AGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACC CCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0229 a0002c0005t0005g0229	1	408	0.0025	652	c.215 others(671): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGG GTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTG GGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCG GTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAG GCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(645): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTTCCT CCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCCTCC TCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCCTCC TCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTT CTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTCCTT TTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTCCTT TTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCCTTC CTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTTCTC CTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA19012.hp2 NA18944.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0021 a0001c0001t0001g0044	2	218	0.0092	652	c.-50 others(663): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAGGGGGCGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAAAA GGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAAAA GGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGA GAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGA GGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PLEKHG4B_chr5_87168_194966	165942	C C	CCTCTGAT others(645): Show CCTCTGATGGGGTGGAGCTCACACTAATACTCTGACAGGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACAC ACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGG GCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGTGACGG GGCAGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTA ATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0110 a0001c0007t0110	a0001c0007t0110g0151 a0001c0007t0110g0151	1	210	0.0048	652	c.347 others(671): Show c.3476+2400_3476+2401insTGGGGTGGAGCTCACACTAATACTCT GACAGGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA TGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACA CAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACG GGGCGGAGCTCACACTAATGCTCTGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(645): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG AGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	422	0.0024	652	c.31 others(663): Show c.3153_*3154insCCAACCCCGGGAACCGCCTGCCCCCACCGACCAA CCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181333	A A	AGCAGTCT others(645): Show AGCAGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTA CGGTCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACA CGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCT TACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACG CATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCT TACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTA CACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACA CGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTA CACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGC CTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCG GTCTTACGGTCTTACACACGCAGTCTTATGGTCTTACACACGGTCTTACA CAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	210	0.0048	652	c.38- others(667): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAGTC TTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACACAA GCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGGTC TTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACACGG TCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACATGC AGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGCAG TCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGG TCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACACAT GCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGCCTTACAC ACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTAC GGTCTTACACACGCAGTCTTATGGTCTTACACACGGTCTTACACACGCAG TCTTACACACGGTCTTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(645): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCA GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTC CCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03017.hp1 HG01257.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0056 a0001c0001t0055 a0001c0001t0056	a0001c0001t0055g0070 a0001c0001t0056g0072 a0001c0001t0055g0070 a0001c0001t0056g0072	2	252	0.0079	652	c.139 others(671): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(645): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	252	0.0040	652	c.139 others(671): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(645): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG02132.hp2 others(6): Show HG00323.hp2 HG00639.hp1 HG02132.hp2 HG03017.hp2 HG03654.hp2 HG03704.hp2 NA18612.hp1 NA18946.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0041 a0001c0001t0001 a0001c0001t0003 a0001c0001t0041	a0001c0001t0001g0252 a0001c0001t0003g0099 a0001c0001t0003g0101 others(6): Show a0001c0001t0001g0252 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0142 a0001c0001t0041g0141	9	252	0.0357	652	c.139 others(671): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(645): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGATGGGGGCCACGTGGGGAGGAG GGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGG CCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAG GAGGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGAGGGGAGGAGGGGGCC GCGTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGGCGGGTGTGGGGAG GAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGT GGGGGGAGGAGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGG GGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGCGCCGTGTGGGG AGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCC GCGCGTGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGCGG AGGAGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGGAGGAGGGGGGC CGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	67	0.0149	652	c.159 others(669): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCCTCGCGGCCC CCTCCTCCCCACACAGCCCCCTCCTCCGCCTCGCGGCCCCCTCCTCCCCA CGCGGCCCCCCTCCTCCCCACGCGCGGCCCCCTCCTCCCCTCGCGGCCCC CTCCTCCCCACGCGGCCCCCCTCCTCCCCACACGGCGCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCC TCCCCACGCCTTCCCTCCTCCCCCCACGGGGCCCCCTCCTCTCCTCACGG CCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACCCGCCCCCCTCCTCC CCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCTCGCGGCC CCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCC ACGGGGCCCCCTCCTCTCCTCACGGCCCCCCTCCTCCCCACGCGGCTCCC TCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGG GGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCCCCATCCT CCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTGGCC CCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(645): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAGTACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAATTTATAAGTATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0272 a0001c0001t0011g0272	1	308	0.0033	652	c.-75 others(671): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATACTTATAAATTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTACTTATAA ACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SARDH_chr9_133658560_133743352	133668573	T T	TCTCCCCT others(645): Show TCTCCCCTCTCCCCTCCCTCCCCTCACCCTCACCCTCCTCACCCTCACCC TCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCCACTCCCTCCCTCCCC TCACCCTCACCCCCACCCACACCCACCCCCTCACCCCACCCCACCCTCAC CACACCCACCCACACCCACACACCTCCCCCCACACCCACCCCACCCACAC CCACCCCACCCCACCCACCCCTCCCACACCCTCCCCTCCCCTCACCCTCC CACCCACCCCCACCCCACCACCCTCACCCTCACCCTCCCCTCCCCACACC CTCCCCACCCTCACCCACCCTCTCCCTCACCCACCCCTCCACACTCCTCC ATCCCACCCTACCCCACCCACACCCACCCAACCCACACCCACCCTCCCTC CCCTCACCCACCATCTCCCTCACCCACCCTCTCCCCTTACCCTCCCTCTC CCACTCCATCCCCTCACCTTACCCTCCCTCACCCACACCATCCCTCTCCC TTACCCTCCCTCTCCCTCACCCTCCCTCACCCCTCACCCTCCCTCTCTCT CACCTTCCCACTCCCTACCCACCCACTCCCTCACCCACCCCCACCCCTCA CCCCACCCTCACCCCTCACCCTCCCTCACCCTCACCCACCCACACCCCTC ATC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0052 a0003c0012t0004g0052	1	262	0.0038	652	c.249 others(671): Show c.2496-1704_2496-1703insGATGAGGGGTGTGGGTGGGTGAGGGT GAGGGAGGGTGAGGGGTGAGGGTGGGGTGAGGGGTGGGGGTGGGTGAGGG AGTGGGTGGGTAGGGAGTGGGAAGGTGAGAGAGAGGGAGGGTGAGGGGTG AGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGATGGTGTGGGTGAG GGAGGGTAAGGTGAGGGGATGGAGTGGGAGAGGGAGGGTAAGGGGAGAGG GTGGGTGAGGGAGATGGTGGGTGAGGGGAGGGAGGGTGGGTGTGGGTTGG GTGGGTGTGGGTGGGGTAGGGTGGGATGGAGGAGTGTGGAGGGGTGGGTG AGGGAGAGGGTGGGTGAGGGTGGGGAGGGTGTGGGGAGGGGAGGGTGAGG GTGAGGGTGGTGGGGTGGGGGTGGGTGGGAGGGTGAGGGGAGGGGAGGGT GTGGGAGGGGTGGGTGGGGTGGGGTGGGTGTGGGTGGGGTGGGTGTGGGG GGAGGTGTGTGGGTGTGGGTGGGTGTGGTGAGGGTGGGGTGGGGTGAGGG GGTGGGTGTGGGTGGGGGTGAGGGTGAGGGGAGGGAGGGAGTGGGGGAGA GGGAGGGTGAGGGGAGAGGGAGGGTGAGGGTGAGGGTGAGGAGGGTGAGG GTGAGGGGAGGGAGGGGAGAGGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SERPINE3_chr13_51334691_51369735	51348694	G G	GGACCCCC others(645): Show GGACCCCCTGATCCAGCCCTAGGCTGGACCAGTTTTTGGAAAGGAAATGC TCGTGGTTCCCTTGTAGGAACGTTGCCCAAATCTTATCCCATCCTAAGAG TATACAACTGTCATTTTCCCAAAACCAAAGAGATAAGATGACTTATGTAA TTGAGTCCCCCCATGACCCCCTGATCCAGCCCTAGGCTGGACCAGTTTTT GGAAAGGAAATGCTCGTGGTTCCCTTGTAGGAACGTTGCCCAAATCTTAT CCCATCCTAAGAGTATACAACTGTCATTTTCCCAAAACCAAAGAGATAAG ATGACTTATGTAATTGAGTCCCCCCATGACCCCCTGATCCAGCCCTAGGC TGGACCAGTTTTTGGAAAGGAAATGCTCGTGGTTCCCTTGTAGGAACGTT GCCCAAATCTTATCCCATCCTAAGAGTATACAACTGTCATTTTCCCAAAA CCAAAGAGATAAGATGACTTATGTAATTGAGTCCCCCCATGACCCCCTGA TCCAGCCCTAGGCTGGACCAGTTTTTGGAAAGGAAATGCTCGTGGTTCCC TTGTAGGAACGTTGCCCAAATCTTATCCCATCCTAAGAGTATACAACTGT CATTTTCCCAAAACCAAAGAGATAAGATGACTTATGTAATTGAGTCCCCC CAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03225.hp1 HG02258.hp2 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0054 a0001c0001t0001g0138	3	432	0.0069	652	c.899 others(667): Show c.899+399_899+400insCCCAAAACCAAAGAGATAAGATGACTTATG TAATTGAGTCCCCCCATGACCCCCTGATCCAGCCCTAGGCTGGACCAGTT TTTGGAAAGGAAATGCTCGTGGTTCCCTTGTAGGAACGTTGCCCAAATCT TATCCCATCCTAAGAGTATACAACTGTCATTTTCCCAAAACCAAAGAGAT AAGATGACTTATGTAATTGAGTCCCCCCATGACCCCCTGATCCAGCCCTA GGCTGGACCAGTTTTTGGAAAGGAAATGCTCGTGGTTCCCTTGTAGGAAC GTTGCCCAAATCTTATCCCATCCTAAGAGTATACAACTGTCATTTTCCCA AAACCAAAGAGATAAGATGACTTATGTAATTGAGTCCCCCCATGACCCCC TGATCCAGCCCTAGGCTGGACCAGTTTTTGGAAAGGAAATGCTCGTGGTT CCCTTGTAGGAACGTTGCCCAAATCTTATCCCATCCTAAGAGTATACAAC TGTCATTTTCCCAAAACCAAAGAGATAAGATGACTTATGTAATTGAGTCC CCCCATGACCCCCTGATCCAGCCCTAGGCTGGACCAGTTTTTGGAAAGGA AATGCTCGTGGTTCCCTTGTAGGAACGTTGCCCAAATCTTATCCCATCCT AAGAGTATACAACTGTCATTTT	SERPINE3	ENSG00000253309.7	transcript	ENST00000681248.1	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(645): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	302	0.0033	652	c.12+ others(667): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTT TATATAATATATAAACATATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACATATAT ATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(645): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACAAACACCACC ATCACTACCACCATCCCCACCACAGCCATCACCACCTCCGCCACCATCAC CACCACTACCACCAGCACCATCACCACCTCTACCTCCATCACCATCACCA CCTCTACCTCCATCACCATCACCACCTCTACCTCCACCAGCATCACCACC ATCATCACCTCTATCTCCACTACCACCATCACTACCACCATCCCCACCAT AGCCATCACCACCTCCACTACCATCACCACCTCTACCTCCACCACCACTA CCACCAGCACCATCACCACCTCTACCTCCACCACCATCACCACCATCATC ACCTGTATCTCCACTACCACCATCCCCACCACAGCCATCACCACCTCCAC CACCATCACCAGCTCTTCCTCCACCACCACCAGCAGCACCATTACCACCA TCACTACCCCTACCTCTGCCACCATCATCACCATCATCACCACCACCACC TCCACCACCCCCATCACCACCACCACCATCACTTACCACCATCCCCACCA CAGCCATCACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACC ACAGTCAACACCACTGTTATTAATACCACCACCACCATCACCACTACCAC CAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(75): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19079.hp1 NA19085.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0006 others(13): Show a0003 a0005 a0006 a0010 a0012 a0016 a0018 a0021 a0024 a0025 a0026 a0028 a0031 a0032 a0034 a0039	a0003c0004 a0003c0022 a0003c0050 others(16): Show a0003c0004 a0003c0022 a0003c0050 a0005c0006 a0006c0007 a0006c0008 a0010c0013 a0012c0014 a0016c0021 a0018c0020 a0021c0049 a0024c0033 a0025c0047 a0026c0034 a0028c0029 a0031c0051 a0032c0036 a0034c0054 a0039c0048	a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 others(16): Show a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 a0005c0006t0001 a0006c0007t0001 a0006c0008t0001 a0010c0013t0001 a0012c0014t0001 a0016c0021t0001 a0018c0020t0001 a0021c0049t0001 a0024c0033t0001 a0025c0047t0001 a0026c0034t0001 a0028c0029t0001 a0031c0051t0001 a0032c0036t0001 a0034c0054t0001 a0039c0048t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 others(72): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0069 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0110 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0124 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0201 a0003c0004t0001g0204 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0225 a0003c0004t0001g0243 a0003c0004t0001g0246 a0003c0022t0001g0219 a0003c0022t0001g0220 a0003c0050t0001g0244 a0005c0006t0001g0001 a0005c0006t0001g0104 a0005c0006t0001g0106 a0005c0006t0001g0172 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0175 a0005c0006t0001g0176 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0256 a0005c0006t0001g0257 a0006c0007t0001g0171 a0006c0007t0001g0181 a0006c0007t0001g0182 a0006c0007t0001g0183 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0006c0008t0001g0126 a0010c0013t0001g0133 a0010c0013t0001g0194 a0010c0013t0001g0241 a0010c0013t0001g0242 a0012c0014t0001g0016 a0012c0014t0001g0018 a0016c0021t0001g0100 a0016c0021t0001g0233 a0018c0020t0001g0259 a0018c0020t0001g0260 a0021c0049t0001g0137 a0024c0033t0001g0017 a0025c0047t0001g0132 a0026c0034t0001g0019 a0028c0029t0001g0041 a0031c0051t0001g0164 a0032c0036t0001g0155 a0034c0054t0001g0185 a0039c0048t0001g0232	78	268	0.2910	652	c.266 others(669): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC AAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCG CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCATCACCACCTCTACCTCCATCACCATCACCACCTCTACCTCCACCAG CATCACCACCATCATCACCTCTATCTCCACTACCACCATCACTACCACCA TCCCCACCATAGCCATCACCACCTCCACTACCATCACCACCTCTACCTCC ACCACCACTACCACCAGCACCATCACCACCTCTACCTCCACCACCATCAC CACCATCATCACCTGTATCTCCACTACCACCATCCCCACCACAGCCATCA CCACCTCCACCACCATCACCAGCTCTTCCTCCACCACCACCAGCAGCACC ATTACCACCATCACTACCCCTACCTCTGCCACCATCATCACCATCATCAC CACCACCACCTCCACCACCCCCATCACCACCACCACCATCACTTACCACC ATCCCCACCACAGCCATCACCACTTCTACCTGCACCACCACCACCATCAC CACCTCCACCACAGTCAACACCACTGTTATTAATACCACCACCACCATCA CCACTACCACCATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(645): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0223 a0001c0003t0005g0223	1	256	0.0039	652	c.924 others(669): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGA GAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGA CAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(645): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18943.hp2 HG02258.hp1 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0213 a0002c0004t0003g0078 a0001c0001t0002g0213 a0002c0004t0003g0078	2	256	0.0078	652	c.924 others(669): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGA GAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGA CAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(645): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	256	0.0039	652	c.924 others(669): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(645): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01496.hp2 others(8): Show HG00639.hp1 HG01256.hp1 HG01496.hp2 HG02293.hp1 HG02735.hp2 HG03490.hp2 NA18747.hp2 NA18941.hp2 NA18960.hp2 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085 others(8): Show a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0095 a0001c0001t0002g0150 a0001c0002t0004g0207	11	256	0.0430	652	c.924 others(669): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747371	G G	GCTGGGGT others(645): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	314	0.0032	652	c.189 others(667): Show c.189-942_189-941insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(645): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0303 a0002c0002t0031g0303	1	314	0.0032	652	c.189 others(667): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(645): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0037 a0002c0002t0013g0037	1	314	0.0032	652	c.189 others(667): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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