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
PRDM16_chr1_3064203_3443621	3212640	G G	GGCCCCCT others(168): Show GGCCCCCTCGCTGAGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGCGGTCCTCCCGCTCATCCTCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	210	0.0048	175	c.387 others(194): Show c.387+26178_387+26179insAGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCAGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212672	C C	CCCGGCCC others(168): Show CCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCC TCGCTGCCGTCCTCCCGCTCATCCTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	210	0.0048	175	c.387 others(194): Show c.387+26221_387+26222insCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCC TCGCTGCCGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722112	G G	GTAGTGGT others(168): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	397	0.0025	175	c.360 others(190): Show c.360-567_360-566insGCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722246	G G	GTGGTGGT others(168): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	397	0.0025	175	c.360 others(190): Show c.360-701_360-700insTCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCATCACCCCATT ACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722252	G G	GTAGTGGT others(168): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0253 a0001c0002t0004g0253	1	397	0.0025	175	c.360 others(190): Show c.360-707_360-706insGCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722281	G G	GTGGTGCT others(168): Show GTGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0142 a0001c0002t0005g0142	1	397	0.0025	175	c.360 others(190): Show c.360-736_360-735insTCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTAGCACCACCACCCCATT ACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTAGCACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722351	A A	ATGGAGGT others(168): Show ATGGAGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0053 a0001c0005t0028g0053	1	397	0.0025	175	c.360 others(190): Show c.360-806_360-805insCCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATT ACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTACCTCCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKCB_chr16_23830983_24225611	23981838	C C	CTTTCCCT others(168): Show CTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTT CCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTT CCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTT TCCCTTCCCTTCCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0121 a0001c0002t0031g0121	1	148	0.0068	175	c.206 others(192): Show c.206-6668_206-6667insTCCCTTCCTTTTCCCTTCCACTTCCCCT TTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCC CTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCC TTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106469	A A	AGTGGGCG others(168): Show AGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACT CTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAGGCCCCTCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	286	0.0035	175	c.335 others(194): Show c.335-28737_335-28736insCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121688	G G	GGTGGTAG others(168): Show GGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTT ATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGGTCGTGG TGGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTAT TTAGGGTCACGGTGGTGGTTAGGGTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	286	0.0035	175	c.335 others(194): Show c.335-13569_335-13568insAGTTATTTAGGGTCACGGTGGTGGTT AGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGG TGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTAG GGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TTATATAT others(168): Show TTATATATATTATATAATATATATTATATATATATTATATAATATATATA TTATATATATTATATAATATATATTATTATATATATTATATAATATATAT TATTATATATATTATATAATATATATTATTATATATATTATATAATATAT ATTATTATATATAATAAATATTATTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0112 a0004c0021t0001g0112	1	228	0.0044	175	c.248 others(194): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATAATATATATTATATAATATATATAA TATATATATTATATAATATATATATAATATATATTATATAATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TTATATAT others(168): Show TTATATATATTATATAATATATATTATATATATATTATATAATATATATT ATTATATATATTATATAATATATATATTATATATATTATATAATATATAT TATTATATATATTATATAATATATATTATTATATATATTATATAATATAT ATTATTATATATAATAAATATTATTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp1 HG01952.hp1 others(5): Show HG00544.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG02129.hp1 HG02148.hp2 NA18970.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(2): Show a0001c0001 a0001c0002 a0001c0017 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0053 a0001c0002t0032 others(5): Show a0001c0001t0001 a0001c0001t0053 a0001c0002t0032 a0001c0017t0005 a0002c0003t0001 a0002c0003t0018 a0002c0005t0001 a0002c0005t0039	a0001c0001t0001g0055 a0001c0001t0053g0013 a0001c0002t0032g0210 others(5): Show a0001c0001t0001g0055 a0001c0001t0053g0013 a0001c0002t0032g0210 a0001c0017t0005g0037 a0002c0003t0001g0104 a0002c0003t0018g0204 a0002c0005t0001g0137 a0002c0005t0039g0117	8	228	0.0351	175	c.248 others(194): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATATATATATTATATAATATATATAAT AATATATATTATATAATATATATATAATATATATTATATAATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132419457	T T	TCTGGAGG others(168): Show TCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGG GGGAGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAG GGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCT GGAGGAGGGGTCTCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0162 a0003c0020t0001g0162	1	374	0.0027	175	c.24 others(186): Show c.2413_*2414insCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGA GGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCT CCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1599		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132419509	A A	AGGAAGTC others(168): Show AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGG GTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02572.hp1 NA20300.hp1 HG02559.hp1 HG02572.hp1 NA20300.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0005 a0005c0012t0001g0005	3	374	0.0080	175	c.24 others(186): Show c.2465_*2466insGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGAGGA AGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCT GGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGG TCTCCTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1651		chr10	TogoVar
RAC2_chr22_37220270_37249269	37227373	C C	CCCTCCCA others(168): Show CCCTCCCATACCCCTCCCACGCCTCCCACGCCATACACCCCTTCCACGCC ATACACCCTTCCCACGACGTACGCCCCTCCTACGCCATACAACCCCTCCC ACGTCACATACCCCTCCCATGCCATACACTCTCCCACACCATACAACCCC TCCCACGCCATACACCCCTTCCCATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp2 NA19240.hp1 others(1): Show HG03098.hp1 HG03471.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0009 a0001c0005 a0001c0008 a0001c0009	a0001c0005t0003 a0001c0008t0003 a0001c0009t0006 a0001c0005t0003 a0001c0008t0003 a0001c0009t0006	a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 others(1): Show a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 a0001c0009t0006g0165	4	448	0.0089	175	c.449 others(190): Show c.449-571_449-570insTATGGGAAGGGGTGTATGGCGTGGGAGGGG TTGTATGGTGTGGGAGAGTGTATGGCATGGGAGGGGTATGTGACGTGGGA GGGGTTGTATGGCGTAGGAGGGGCGTACGTCGTGGGAAGGGTGTATGGCG TGGAAGGGGTGTATGGCGTGGGAGGCGTGGGAGGGGTATGGGAGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAD52_chr12_906736_954694	932757	T T	TGTAAACG others(168): Show TGTAAACGTACTAGGTACTGCCCCCGCACGCACCGCGTCAACGTACTAGG TACTGCCCCCGCACGCACCGCGTCAACGTACTAGGTACTGCTCACACACG TACTAGGTAAACGTACTAGGTACTGCCCCCGCACGCACCGCGTCAACGTA CTAGGTACTGCTCACACACGTACTAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG06807.hp2 HG02055.hp1 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0101 a0001c0001t0016g0102 a0001c0001t0016g0169 a0001c0001t0016g0101 a0001c0001t0016g0102 a0001c0001t0016g0169	3	400	0.0075	175	c.84+ others(188): Show c.84+217_84+218insCTAGTACGTGTGTGAGCAGTACCTAGTACGTT GACGCGGTGCGTGCGGGGGCAGTACCTAGTACGTTTACCTAGTACGTGTG TGAGCAGTACCTAGTACGTTGACGCGGTGCGTGCGGGGGCAGTACCTAGT ACGTTGACGCGGTGCGTGCGGGGGCAGTACCTAGTACGTTTAC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	2/11			chr12	TogoVar
RASA3_chr13_113972783_114137623	114044018	G G	GCCCCCCC others(168): Show GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCC CCCGCCGCCTCACTCGCTGAGCCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	67	0.0149	175	c.278 others(192): Show c.278-2925_278-2924insGGGGGCTCAGCGAGTGAGGCGGCGGGGG GAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGGCTCAGCGAGTGAGGCG GGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASGRF2_chr5_80955363_81235162	81162523	T T	TTTTTTTT others(168): Show TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG01884.hp1 HG02559.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0199 a0001c0010t0002g0200 a0001c0010t0002g0199 a0001c0010t0002g0200	2	276	0.0073	175	c.268 others(196): Show c.2687-17652_2687-17651insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT A	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	17/26			chr5	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(168): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03490.hp2 HG01074.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0127 a0001c0001t0001g0134 a0001c0001t0003g0127	2	292	0.0069	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(168): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	292	0.0034	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(168): Show ACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01074.hp1 others(2): Show HG00735.hp1 HG00738.hp1 HG01074.hp1 HG02293.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0024g0062	5	292	0.0171	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC AGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(168): Show ACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp2 HG03654.hp2 others(1): Show HG01192.hp2 HG02486.hp2 HG03654.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0003g0056 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0003g0056 a0001c0002t0003g0136	4	292	0.0137	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(168): Show ACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG01516.hp2 others(12): Show HG00099.hp2 HG01168.hp2 HG01516.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG03669.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18979.hp2 NA19000.hp2 NA19081.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0010g0067 a0001c0001t0010g0113 a0001c0001t0015g0101 a0001c0001t0030g0125 a0001c0001t0033g0255	15	292	0.0514	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCGCCTCCCTCCCGGACGGGGCA GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(168): Show ACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGACCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	292	0.0034	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCAG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(168): Show CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCAGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	292	0.0034	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(168): Show CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp2 HG01981.hp1 others(22): Show HG01123.hp1 HG01975.hp2 HG01981.hp1 HG02148.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18969.hp1 NA18979.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018	a0001c0001t0002g0163 a0001c0001t0002g0181 a0001c0001t0002g0207 others(22): Show a0001c0001t0002g0163 a0001c0001t0002g0181 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0286 a0001c0001t0004g0166 a0001c0001t0004g0173 a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0216 a0001c0001t0014g0193 a0001c0001t0018g0239	25	292	0.0856	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(168): Show CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	292	0.0034	175	c.362 others(192): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
REPS2_chrX_16941658_17158272	17050092	T T	TGTCTACT others(168): Show TGTCTACTTCATAATACAAGCCTTAACTTACTTACATACTTCCTTAATCT TCCTCATTTTCAACAAATCATACCTTCCTTCTTCCTACTTATTCTTCTTC AGTCTTTCTTCTTTCTTCTCTTTCCTTTCTTTTCTTATCTTTCATATCTT TCTTACTTAATTTCATCTTTACTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	166	0.0060	175	c.908 others(192): Show c.908-2290_908-2289insGTCTACTTCATAATACAAGCCTTAACTT ACTTACATACTTCCTTAATCTTCCTCATTTTCAACAAATCATACCTTCCT TCTTCCTACTTATTCTTCTTCAGTCTTTCTTCTTTCTTCTCTTTCCTTTC TTTTCTTATCTTTCATATCTTTCTTACTTAATTTCATCTTTACTTTC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17			chrX	TogoVar
RFX2_chr19_5988164_6115500	6104413	C C	CAAAAAAT others(168): Show CAAAAAATTAGCCGGGCATAGTGGCGGGTGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18612.hp1 NA18953.hp1 others(4): Show HG02155.hp1 NA18612.hp1 NA18953.hp1 NA18973.hp2 NA18983.hp2 NA19077.hp1 NA19085.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0010 a0003c0005 a0009c0010	a0003c0005t0001 a0003c0005t0003 a0009c0010t0001 a0003c0005t0001 a0003c0005t0003 a0009c0010t0001	a0003c0005t0001g0046 a0003c0005t0001g0049 a0003c0005t0001g0051 others(4): Show a0003c0005t0001g0046 a0003c0005t0001g0049 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0197 a0003c0005t0003g0020 a0009c0010t0001g0047	7	308	0.0227	175	c.-9+ others(190): Show c.-9+5979_-9+5980insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTAACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTATGCCCGGCTAATTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3505421	A A	AATATAAA others(168): Show AATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTT ATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAAAT AAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATATA AATATAAAATAAAATACTTTATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00597.hp2 others(55): Show HG00140.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01257.hp1 HG01433.hp1 HG01891.hp1 HG01981.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18983.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0003t0004 a0001c0005t0010 a0001c0007t0002 a0002c0006t0001	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0097 others(55): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0003g0110 a0001c0001t0003g0123 a0001c0001t0003g0144 a0001c0001t0003g0182 a0001c0001t0004g0071 a0001c0001t0006g0094 a0001c0001t0007g0111 a0001c0001t0008g0184 a0001c0001t0013g0099 a0001c0001t0013g0120 a0001c0001t0014g0096 a0001c0001t0015g0070 a0001c0001t0015g0073 a0001c0001t0016g0069 a0001c0001t0019g0122 a0001c0001t0023g0072 a0001c0001t0024g0114 a0001c0001t0027g0109 a0001c0001t0033g0002 a0001c0001t0034g0077 a0001c0001t0035g0139 a0001c0001t0037g0074 a0001c0001t0044g0143 a0001c0001t0046g0091 a0001c0001t0063g0174 a0001c0001t0065g0127 a0001c0001t0067g0187 a0001c0001t0068g0188 a0001c0003t0004g0135 a0001c0005t0010g0178 a0001c0007t0002g0177 a0002c0006t0001g0173	58	196	0.2959	175	c.-9+ others(192): Show c.-9+20325_-9+20326insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505421	A A	AATATAAA others(168): Show AATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTT ATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAAAT AAAATATTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATATA AATATAAAATAAAATACTTTATATTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	196	0.0051	175	c.-9+ others(192): Show c.-9+20325_-9+20326insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAATATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(168): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTTTCTTTTCT TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	40	0.0250	175	c.127 others(192): Show c.1277-648_1277-647insTTCTTTTCTCTTTTCTTTTCTTTCTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(168): Show TATATATATAATATATATAATATATATATAATATATATATATAAAATATA TATATATTATATATATATATATATATTATATATATATAAAATATATATAT AATATATATAATATATATATTATATATAATATATATATAATATATATATA TATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp2 HG01496.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0267 a0003c0003t0005g0268 a0003c0003t0005g0267 a0003c0003t0005g0268	2	410	0.0049	175	c.67- others(188): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATA TATATTATATATATATTATATATAATATATATATTATATATATTATATAT ATATTTTATATATATATAATATATATATATATATATAATATATATATATT TTATATATATATATTATATATATATTATATATATTATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(168): Show CTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0186 a0001c0013t0017g0199 a0001c0013t0017g0186 a0001c0013t0017g0199	2	448	0.0045	175	c.47 others(186): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(168): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCC GCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01361.hp2 others(20): Show HG00735.hp2 HG00741.hp1 HG01361.hp2 HG01891.hp2 HG02074.hp2 HG02451.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18965.hp1 NA19043.hp2 NA19081.hp2 NA19087.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 others(18): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0020g0046 a0001c0001t0022g0051 a0001c0001t0023g0048 a0001c0001t0025g0050 a0001c0001t0032g0040	23	356	0.0646	175	c.-36 others(190): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGCGGGGC CCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTC CCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGC CGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	319915	T T	TTGAGGGG others(168): Show TTGAGGGGAGGGAGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGA TTGAGGGGAGGGAGGGGGAGGGAGACTGAGGAGAGGGAGGGGGAGGGAGA CTGAGGGGATGGAGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGA CTGAGGGGAGGGAGGGGGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	133	0.0075	175	c.222 others(190): Show c.222-367_222-366insGTCTCCCTCCCCCTCCCTCCCCTCAGTCTC CCTCCCCCTCCCTCCCCTCAGTCTCCCTCCCCCTCCATCCCCTCAGTCTC CCTCCCCCTCCCTCTCCTCAGTCTCCCTCCCCCTCCCTCCCCTCAATCTC CCTCCCCCTCCCTCCCCTCAGTCTCCCTCCCCCTCCCTCCCCTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(168): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0048 a0001c0024t0002g0048	1	196	0.0051	175	c.348 others(194): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(168): Show TCCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCAC CACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCACCACCACCCTCCACCACCACCACCACCACCTCCAC CTCCACCACCACCACCTCCACCTTCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	60	0.0167	175	c.299 others(192): Show c.2992+454_2992+455insACCACCTCCACCACCTCCACCTCCACCA CCACCACCTCCACCACCACCTCCACCTCCACCTCCACCTCCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCACCACCACCCTCCACCACCA CCACCACCACCTCCACCTCCACCACCACCACCTCCACCTTCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCAC others(168): Show CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCC ACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATC CCTCTCCTCGCTCCCCTCCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0002 a0002c0002t0015g0002	1	365	0.0027	175	c.47 others(186): Show c.4786_*4787insCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG GCCGTCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC CCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCAC others(168): Show CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCC ACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCACCCCATC CCTCTCCTCGCTCCCCTCCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	365	0.0027	175	c.47 others(186): Show c.4786_*4787insCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG GCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCG CCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626555	G G	GTGTCATA others(168): Show GTGTCATATATATGTCATATATGTGTCATATATATGTCATATATGTGTCA TATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATA TATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATA TATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	202	0.0050	175	c.-22 others(186): Show c.-2269_-2268insTGTCATATATATGTCATATATGTGTCATATATAT GTCATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCA TATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATA TATATGTGTCATATATATGTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1842		chr7	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(168): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGGGGGGGGGGGTTATGTGTGTGGGGGGGGTTA TGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTAT GTGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0047 a0001c0001t0004 a0001c0001t0047	a0001c0001t0004g0204 a0001c0001t0047g0116 a0001c0001t0004g0204 a0001c0001t0047g0116	2	232	0.0086	175	c.29- others(192): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGG GGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAG TGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(168): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGGGTTA TGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTAT GTGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0194 a0001c0005t0001g0194	1	232	0.0043	175	c.29- others(192): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGGGTTATGTGTGTATGGGG GGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAG TGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369012	G G	GGGGGGGG others(168): Show GGGGGGGGTTATGTGTGTGTGGGGGGTTATGTGTGTATGGGGGGTTATGT GTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGG TTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTG AGTGCGGGGCTTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0041 a0001c0001t0008 a0001c0001t0041	a0001c0001t0008g0131 a0001c0001t0041g0139 a0001c0001t0008g0131 a0001c0001t0041g0139	2	232	0.0086	175	c.29- others(192): Show c.29-32620_29-32619insGGGGGGGTTATGTGTGTGTGGGGGGTTA TGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTAT GTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGT GTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9			chr9	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(168): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTC CCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG00741.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	342	0.0059	175	c.45 others(186): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGGAA GGAAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAGGG AGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GCAGGAGG others(168): Show GCAGGAGGAGGAGGAGGAGGAGAAACAGGTGTTAGGACACTGTGGGGACG TCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGGAAG AGGAAGAACAGGAGGACGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0168 a0000c0009t0001g0168	1	203	0.0049	175	c.-12 others(194): Show c.-127+9348_-127+9349insTCCTCCTCCGTCCTCCTGTTCTTCCT CTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGA CGTCCCCACAGTGTCCTAACACCTGTTTCTCCTCCTCCTCCTCCTCCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCGB1C1_chr11_188078_199575	196121	G G	GGGACATG others(168): Show GGGACATGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATAGGGGGACCTTGGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	175	c.16 others(186): Show c.1671_*1672insGGACATGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1547		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(168): Show GCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	175	c.48 others(186): Show c.4846_*4847insCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SDK1_chr7_3296252_4274000	4180233	C C	CCAGCTCT others(168): Show CCAGCTCTATGCCCAGTGCCCAGCTCCAGCTCTATGCCCAGTACCCGGCT CCAGCTCTATGCCCTGTGCCTGGCTCCAGCTCTATGCCCAGTGCCCGGCT CCAGCTCTATGCCCAGCACCCGGCTCCAGCTCTATGCCCAGCGCCTGGCT CCAGCTCTATGCCCAGCGCCCAGCTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01123.hp2 others(14): Show HG00558.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01516.hp2 HG01978.hp1 HG02735.hp2 HG02738.hp2 HG03491.hp1 HG03688.hp2 HG03710.hp1 NA19043.hp1 NA20300.hp2 NA20752.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0009 a0010 a0018 a0031	a0001c0004 a0001c0005 a0001c0039 others(11): Show a0001c0004 a0001c0005 a0001c0039 a0001c0072 a0003c0001 a0003c0033 a0003c0047 a0006c0006 a0007c0016 a0007c0077 a0009c0079 a0010c0019 a0018c0028 a0031c0074	a0001c0004t0001 a0001c0005t0051 a0001c0039t0050 others(14): Show a0001c0004t0001 a0001c0005t0051 a0001c0039t0050 a0001c0072t0065 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0033t0002 a0003c0047t0038 a0006c0006t0001 a0006c0006t0012 a0007c0016t0001 a0007c0077t0003 a0009c0079t0054 a0010c0019t0074 a0018c0028t0049 a0031c0074t0042	a0001c0004t0001g0039 a0001c0005t0051g0030 a0001c0039t0050g0022 others(14): Show a0001c0004t0001g0039 a0001c0005t0051g0030 a0001c0039t0050g0022 a0001c0072t0065g0027 a0003c0001t0003g0037 a0003c0001t0059g0024 a0003c0001t0063g0032 a0003c0033t0002g0103 a0003c0047t0038g0082 a0006c0006t0001g0036 a0006c0006t0012g0115 a0007c0016t0001g0114 a0007c0077t0003g0099 a0009c0079t0054g0073 a0010c0019t0074g0009 a0018c0028t0049g0035 a0031c0074t0042g0081	17	116	0.1466	175	c.509 others(194): Show c.5098+1667_5098+1668insAGCTCCAGCTCTATGCCCAGTACCCG GCTCCAGCTCTATGCCCTGTGCCTGGCTCCAGCTCTATGCCCAGTGCCCG GCTCCAGCTCTATGCCCAGCACCCGGCTCCAGCTCTATGCCCAGCGCCTG GCTCCAGCTCTATGCCCAGCGCCCAGCTACAGCTCTATGCCCAGTGCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4180378	T T	TGGCTCCA others(168): Show TGGCTCCAGCTCTATGCCCAGCGCCCAGCTACAGCTCTATGCCCAGTGCC CAGCTCCAGCTCTATGCCCAGTACCCGGCTCCAGCTCTATGCCCTGTGCC TGGCTCCAGCTCTATGCCCAGTGCCCGGCTCCAGCTCTATGCCCAGCACC CGGCTCCAGCTCTATGCCCAGCGCCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03710.hp2 HG01516.hp1 HG03710.hp2	a0001 a0006 a0001 a0006	a0001c0008 a0006c0044 a0001c0008 a0006c0044	a0001c0008t0004 a0006c0044t0001 a0001c0008t0004 a0006c0044t0001	a0001c0008t0004g0096 a0006c0044t0001g0020 a0001c0008t0004g0096 a0006c0044t0001g0020	2	116	0.0172	175	c.509 others(194): Show c.5098+1816_5098+1817insCAGCTACAGCTCTATGCCCAGTGCCC AGCTCCAGCTCTATGCCCAGTACCCGGCTCCAGCTCTATGCCCTGTGCCT GGCTCCAGCTCTATGCCCAGTGCCCGGCTCCAGCTCTATGCCCAGCACCC GGCTCCAGCTCTATGCCCAGCGCCCGGCTCCAGCTCTATGCCCAGCGCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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