Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRRC2B_chr9_131389086_131505193	131420465	C C	CTTTCTCT others(233): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT CTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0117 a0004c0004t0005g0117	1	216	0.0046	240	c.-51 others(257): Show c.-51-9624_-51-9623insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCT TTCTTTGTTTCT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(233): Show GACACTCCGGTGGATGCCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0167	1	346	0.0029	240	c.183 others(257): Show c.183-1075_183-1074insCCGGACCTGGGTTAGACGTGAGGACACA CTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGA TGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCT GGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACG TGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACA CTCCGGTGGATG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(233): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	346	0.0029	240	c.183 others(257): Show c.183-1012_183-1011insGGACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459281	G G	GGGTTAGA others(233): Show GGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACG TGAGGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACA CTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGA TGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCT GGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	346	0.0029	240	c.183 others(255): Show c.183-778_183-777insGTGAGGACACACTCTGGTGGATGTAGGACC TGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGAC GTGAGGACACACTCCGGTGGATGTCGGACCTCGGTTAGACGTGAGGACAC ACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGG ATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACC TGGGTTAGAC		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	511351	G G	GGCCCGCC others(233): Show GGCCCGCCCACCCCAGAAACTGCAGGCCAGGTAGGAGAGGTTCCCGACAG CCCGCCCACCCCAGAAACTGCAGGCCAGGTAGGAGAGGTTCCCGACAGCC CGCCAACCCCAGAAACTGCAGGCCAGATAGGAGAGGTTCTTGACAGCCCG CCCACCCCAGAAACTGCAGGCCAGGCAGGAGAGGTTCCTGACGGCCCGCC CACCCCAGAAACTGCAGGCCAGGTAGGAGAGGTTCCCGACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp2 NA21309.hp2 HG01106.hp1 HG02109.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0043 a0001c0002t0019 a0001c0002t0043	a0001c0002t0019g0106 a0001c0002t0019g0285 a0001c0002t0043g0025 a0001c0002t0019g0106 a0001c0002t0019g0285 a0001c0002t0043g0025	3	295	0.0102	240	c.164 others(257): Show c.1640+606_1640+607insCACCCCAGAAACTGCAGGCCAGGTAGGA GAGGTTCCCGACAGCCCGCCAACCCCAGAAACTGCAGGCCAGATAGGAGA GGTTCTTGACAGCCCGCCCACCCCAGAAACTGCAGGCCAGGCAGGAGAGG TTCCTGACGGCCCGCCCACCCCAGAAACTGCAGGCCAGGTAGGAGAGGTT CCCGACAGCCCGCCCACCCCAGAAACTGCAGGCCAGGTAGGAGAGGTTCC CGACAGCCCGCC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB28_chr4_13362724_13489340	13456710	A A	ATAATTCA others(233): Show ATAATTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp2 others(5): Show HG01109.hp2 HG01884.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0023 others(5): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028	8	196	0.0408	240	c.391 others(257): Show c.391+3988_391+3989insGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGA ACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAATGAATTA		RAB28	ENSG00000157869.16	transcript	ENST00000288723.9	protein_coding	4/7						chr4	TogoVar
RASA3_chr13_113972783_114137623	114080978	G G	GAGTGCCC others(233): Show GAGTGCCCCTAGGCAGAGGGCCATCCACCCAAAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCAGCAGAGGGCCGTCCACCC AAAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044	3	67	0.0448	240	c.56- others(255): Show c.56-7142_56-7141insATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTTTGGGTGGACGGCCCTCTGCTGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTTTGGGTGGATGGCCCTCTGCC TAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114080978	G G	GAGTGCCC others(233): Show GAGTGCCCCTCGGCAGAGGGCCATCCACCCAAAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCAGCAGAGGGCCGTCCACCC AAAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(16): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG02300.hp2 HG02723.hp1 HG02738.hp2 HG03130.hp2 HG03490.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18954.hp1 NA18973.hp1 NA18973.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0007t0002 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0007t0002g0063 a0001c0009t0008g0048	19	67	0.2836	240	c.56- others(255): Show c.56-7142_56-7141insATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTTTGGGTGGACGGCCCTCTGCTGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTTTGGGTGGATGGCCCTCTGCC GAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114080978	G G	GAGTGCCC others(233): Show GAGTGCCCCTCGGCAGAGGGCCATCCACCCAAAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCAGCAGAGGGCCGTCCACCC AAAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	67	0.0149	240	c.56- others(255): Show c.56-7142_56-7141insATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTTTGGGTGGACGGCCCTCTGCTGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTTTGGGTGGATGGCCCTCTGCC GAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555510	G G	GATAATAG others(233): Show GATAATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGA TCATGTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATG GTGGTGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGAT AGTAGTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGG TGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0093 a0001c0001t0025g0143 a0001c0001t0002g0093 a0001c0001t0025g0143	2	154	0.0130	240	c.-32 others(261): Show c.-320+55315_-320+55316insTATCACTATTATCACCACCGTTAC CACCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTG CCATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATC ATCACCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCAC CACCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCA CCATTATCACTATTAT		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(233): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	412	0.0024	240	c.205 others(255): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCAC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(233): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18995.hp1 HG02647.hp1 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0082 a0003c0003t0001g0063 a0001c0001t0001g0082 a0003c0003t0001g0063	2	412	0.0049	240	c.205 others(255): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCT		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(233): Show TGTATGTATGTATGTGTATGCATACGTATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTGTATACATACATACGTATGTGTATACA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATA CATATGTATGTGTATACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	240	c.-23 others(251): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATGTATACACATACGTATGTATGTATACACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACGTATGCATACACATACAT ACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(233): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATA CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	240	c.-24 others(251): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACATAT GTATGTATACACATACATACGTATGTATACACATACATACGTATGTATAC ACATACATACGTATGTATGTATACACATACATACGTATGTATGTATACAC ATACATACGTATGTATACACATACATACGTATGTATACACATACATACAT ACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2225		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124296139	T T	TTTCTTTC others(233): Show TTTCTTTCTTTCTTTCTCTCTCTTTTTCTCTCTCTCTCTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	388	0.0026	240	c.207 others(255): Show c.207+504_207+505insTCTTTCTTTCTTTCTCTCTCTTTTTCTCTC TCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTCCTTTCCTTTCCTTTCC TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCT		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392142	C C	CCGTCAGT others(233): Show CCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGTCACCGTC ATCACGTGTGTGCGTCAGTTACCTGGTGAATATTGAACGTTGTGATGACC CGGTCACCGTCATCACATGTCCGTCAGTTACCTGGTGAATATTGAACGTT GTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCGTCATCACGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	180	0.0056	240	c.52 others(251): Show c.5218_*5219insCACACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACGGACACATGATGACGGTGACCGGG TCATCACAACGTTCAATATTCACCAGGTAACTGACGGACATGTGATGACG GTGACCGGGTCATCACAACGTTCAATATTCACCAGGTAACTGACGCACAC ACGTGATGACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAA CTGACG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3990		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392375	C C	CGTGTGTC others(233): Show CGTGTGTCTGTCAGTTACCTGGTGAATATTGAGTGTTGTGATGACCCGGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTAAATATTGAATGTTGTGA TGACCTGGTCACCGTCATCAAGTGTGTCCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACCTG GTAAATATTGAATGTTGTGATGACCTGGTCACCGTCATCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0050 a0011c0050	a0011c0050t0001 a0011c0050t0001	a0011c0050t0001g0104 a0011c0050t0001g0104	1	180	0.0056	240	c.49 others(251): Show c.4985_*4986insTTGATGACGGTGACCAGGTCATCACAACATTCAA TATTTACCAGGTAACTGACGGACACATGATGACGGTGACCGGGTCATCAC AACATTCAATATTCACCAGGTAACTGATGGACACACTTGATGACGGTGAC CAGGTCATCACAACATTCAATATTTACCAGGTAACTGACGGACACGTGAT GACGGTGACCGGGTCATCACAACACTCAATATTCACCAGGTAACTGACAG ACACAC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3757		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392384	G G	GTCAGTTA others(233): Show GTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCAT CACGTGTCCGTCAGTTACCTGGTAAATATTGAATGTTGTGATGACCTGGT CACCGTCATCAAGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGT GATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACCTGGTAAATATT GAATGTTGTGATGACCTGGTCACCGTCATCAAGTGTGTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG03471.hp1 HG01109.hp1 HG03139.hp1 HG03471.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0002c0016 a0004c0040 a0001c0008 a0002c0016 a0004c0040	a0001c0008t0001 a0002c0016t0001 a0004c0040t0001 a0001c0008t0001 a0002c0016t0001 a0004c0040t0001	a0001c0008t0001g0176 a0002c0016t0001g0124 a0004c0040t0001g0171 a0001c0008t0001g0176 a0002c0016t0001g0124 a0004c0040t0001g0171	3	180	0.0167	240	c.49 others(251): Show c.4976_*4977insTGGACACACTTGATGACGGTGACCAGGTCATCAC AACATTCAATATTTACCAGGTAACTGACGGACACATGATGACGGTGACCG GGTCATCACAACATTCAATATTCACCAGGTAACTGATGGACACACTTGAT GACGGTGACCAGGTCATCACAACATTCAATATTTACCAGGTAACTGACGG ACACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGT AACTGA		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3748		chr12	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(233): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG03704.hp2 HG01515.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0070 a0001c0001t0010g0027 a0001c0001t0010g0070	2	396	0.0051	240	c.-76 others(249): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(233): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01978.hp2 HG02280.hp2 others(6): Show HG01346.hp2 HG01978.hp2 HG02280.hp2 HG02738.hp1 HG02738.hp2 NA18963.hp2 NA19011.hp1 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0031 a0001c0005t0078	a0001c0001t0001g0002 a0001c0001t0001g0146 a0001c0001t0005g0149 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0146 a0001c0001t0005g0149 a0001c0001t0005g0187 a0001c0001t0007g0005 a0001c0001t0007g0081 a0001c0001t0017g0014 a0001c0001t0031g0047 a0001c0005t0078g0022	9	396	0.0227	240	c.-76 others(249): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF220_chr1_44400255_44656723	44475801	C C	CAAGAGAT others(233): Show CAAGAGATCAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG02451.hp1 others(14): Show HG00642.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0097 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0166 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0188 a0001c0001t0003g0122 a0001c0001t0004g0016 a0001c0001t0007g0017 a0001c0001t0007g0180 a0001c0001t0018g0015	17	218	0.0780	240	c.625 others(259): Show c.625+63098_625+63099insGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAG ATCAAGACCATCCT		RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF223_chr1_1065967_1079306	1076415	G G	GCTACGGG others(233): Show GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAG GCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGG GGAGGCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	240	c.-24 others(251): Show c.-2410_-2409insACTCAGCCACCCCTCACGGAGTCCCCATAGACTC AGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCC CCGTAGCCTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAGCCTCCCCC CACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTC AGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCC CCGTAG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2110		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077449	G G	GGGGGGAG others(233): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGTGGC TGTGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATG GAGACTCCATGGGGGGAGGCTGAGGCTAGGGGGACTCCGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	240	c.-34 others(251): Show c.-3444_-3443insAACGGAGTCCCCCTAGCCTCAGCCTCCCCCCATG GAGTCTCCATAGACTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCAT AGCCACAGCCACCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACG GAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC TCCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3144		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077720	C C	CCGGGAGG others(233): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02300.hp2 HG02683.hp1 HG01123.hp2 HG02300.hp2 HG02683.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0049 a0007c0012t0001g0052 a0001c0001t0001g0001 a0001c0001t0001g0049 a0007c0012t0001g0052	3	324	0.0093	240	c.-37 others(251): Show c.-3715_-3714insCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGC CTCCCG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3415		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078085	A A	AGGCTGAG others(233): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	240	c.-40 others(251): Show c.-4080_-4079insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3780		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078145	A A	AGGCTGAG others(233): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	240	c.-41 others(251): Show c.-4140_-4139insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3840		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116800812	T T	TCAAAATA others(233): Show TCAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0039 a0001c0011t0039	a0001c0011t0039g0012 a0001c0011t0039g0012	1	268	0.0037	240	c.882 others(259): Show c.882+21464_882+21465insCAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10						chr12	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATTTAT others(233): Show GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAA CAGTATATGTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	118	0.0085	240	c.167 others(261): Show c.167-137397_167-137396insTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(233): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTT TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00423.hp2 HG01433.hp1 others(4): Show HG00140.hp1 HG00423.hp2 HG01433.hp1 NA18944.hp2 NA18963.hp2 NA19004.hp1 NA19009.hp1	a0020 a0123 a0124 others(1): Show a0020 a0123 a0124 a0171	a0020c0028 a0020c0134 a0123c0083 others(2): Show a0020c0028 a0020c0134 a0123c0083 a0124c0084 a0171c0062	a0020c0028t0002 a0020c0134t0002 a0123c0083t0001 others(2): Show a0020c0028t0002 a0020c0134t0002 a0123c0083t0001 a0124c0084t0002 a0171c0062t0002	a0020c0028t0002g0088 a0020c0028t0002g0090 a0020c0028t0002g0212 others(4): Show a0020c0028t0002g0088 a0020c0028t0002g0090 a0020c0028t0002g0212 a0020c0134t0002g0119 a0123c0083t0001g0036 a0124c0084t0002g0040 a0171c0062t0002g0085	7	414	0.0169	240	c.402 others(249): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAA ACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGAC TAAA	p.Lys others(255): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGl uGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RPH3AL_chr17_207389_357807	242302	A A	ACCTTCCT others(233): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	133	0.0075	240	c.613 others(257): Show c.613+4808_613+4809insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATA GAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTC AATAGAGGAAGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	242453	C C	CTACCTTC others(233): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	133	0.0075	240	c.613 others(257): Show c.613+4657_613+4658insATCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAA TAGAGGAAGGTA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	242919	C C	CCCTTCCT others(233): Show CCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGAATACCTTCCTCTATTGA ATACCTTCCTCTATTGAATACCTTCCTCTATTGAATACCATCCTCTATTG ATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTTCCTCTA CTGATTACCTTCCTCTACTGATTACCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	240	c.613 others(257): Show c.613+4191_613+4192insTAGTCAATAGAGGAAGGTAATCAGTAGA GGAAGGTAATCAGTAGAGGAAAGGTAATCAATAGAGGAAGGTAATCAATA GAGGAAGGGTAATCAATAGAGGATGGTATTCAATAGAGGAAGGTATTCAA TAGAGGAAGGTATTCAATAGAGGAAGGTATTCAATAGAGGAAGGTAGTCA ATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTC AATAGAGGAAGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	288187	G G	GCACCCTC others(233): Show GCACCCTCTCTCCACCGTCAGACCTCGCACGCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18983.hp2 NA18993.hp1 others(2): Show NA18963.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 a0001c0001t0032	a0001c0001t0001g0047 a0001c0001t0015g0041 a0001c0001t0019g0011 others(2): Show a0001c0001t0001g0047 a0001c0001t0015g0041 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0032g0004	5	133	0.0376	240	c.352 others(257): Show c.352-6334_352-6333insTGAGGTCTGACGGTGGAGAGAGAGGGAG TGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGCGTGCGAGGTCTGACGGT GGAGAGAGGGTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	315164	C C	CCCCACCT others(233): Show CCCCACCTCCACTGACCTGTTGTCTCTGTGCTCCACCTCCATTGACCTGT AGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTCC ACTGACCTGTAGTCACTGTGCACCCACCTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTG TTGTCTCTGTGCTACACCTCCACTGACCTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0126 a0001c0002t0009g0126	1	133	0.0075	240	c.351 others(257): Show c.351+4255_351+4256insCACAGGGACTACAGGTCAGTGGAGGTGT AGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAGGGACTACAGGTCA ATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGAGGTGGGTGCACAGTG ACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGGTG GGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACAACAGGTC AGTGGAGGTGGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RUNX1_chr21_34782801_35054302	34849424	G G	GTATATAT others(233): Show GTATATATACTATATATAATATAGTATATATACTATATATAATATATAGT ATATATAATATATTATATATAGTATATATTATATATAGTATAATATATAA TATATATTATATATAGTATAATATATAATATATATTATATATAGTATATA TAATATATTATATATAGTATAATATATAATATATAGTATATATATAGTAT ATATATAATATATTATATATAGTATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01169.hp2 others(6): Show HG00280.hp1 HG00280.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01978.hp1 HG02109.hp1 HG03710.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0002t0007	a0001c0001t0001g0135 a0001c0001t0002g0004 a0001c0001t0002g0040 others(6): Show a0001c0001t0001g0135 a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0136 a0001c0001t0010g0002 a0001c0001t0011g0003 a0001c0001t0011g0094 a0001c0002t0007g0121	9	170	0.0529	240	c.613 others(259): Show c.613+10049_613+10050insATATATATTATATATTATACTATATA TAATATATTATATATATACTATATATATACTATATATTATATATTATACT ATATATAATATATTATATATACTATATATAATATATATTATATATTATAC TATATATAATATATATTATATATTATACTATATATAATATATACTATATA TAATATATTATATATACTATATATTATATATAGTATATATACTATATTAT ATATAGTATATATA		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8						chr21	TogoVar
SCGB2A2_chr11_62265158_62278160	62277897	C C	CCTCTCCC others(233): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	390	0.0026	240	c.49 others(251): Show c.4902_*4903insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCT		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4738		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(233): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTCGCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	390	0.0026	240	c.49 others(251): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTCG CTCTCG		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4780		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(233): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGGGTGAGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0288 a0005c0017t0002g0288	1	290	0.0035	240	c.464 others(253): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGTTGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290054	T T	TCCCGTGT others(233): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	290	0.0035	240	c.166 others(257): Show c.1663-204_1663-203insCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE2_chr11_9014476_9096599	9040566	T T	TAGGAGAA others(233): Show TAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGGAGGGTATACAC CATGGGTACGCAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGGA GGGTACACAGCATGGGTACGCAGGAGAAAGGGAGGATTCATATCCCAGGC AGGATGGGGAGGGTACACAGCATGGGTACGTAGGAGAAAGGGAGGATTCA TATCCCAGGCAGGATGGGGAGGGTATACACCGTGGGTACGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0003 a0022 a0003 a0022	a0003c0003 a0022c0029 a0003c0003 a0022c0029	a0003c0003t0001 a0022c0029t0001 a0003c0003t0001 a0022c0029t0001	a0003c0003t0001g0173 a0022c0029t0001g0187 a0003c0003t0001g0173 a0022c0029t0001g0187	2	358	0.0056	240	c.200 others(259): Show c.2003-6771_2003-6770insGCGTACCCACGGTGTATACCCTCCCC ATCCTGCCTGGGATATGAATCCTCCCTTTCTCCTACGTACCCATGCTGTG TACCCTCCCCATCCTGCCTGGGATATGAATCCTCCCTTTCTCCTGCGTAC CCATGCTGTGTACCCTCCCCATCCTGCCTGGGATATGAATCCTCCCTTTC TCCTGCGTACCCATGGTGTATACCCTCCCCATCCTGCCTGGGATATGAAT CCTCCCTTTCTCCT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(233): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	324	0.0031	240	c.115 others(257): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEMA5A_chr5_9030033_9551075	9426431	A A	AATAAATA others(233): Show AATAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0016 a0001c0003t0041g0016	1	134	0.0075	240	c.-78 others(259): Show c.-78+11324_-78+11325insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTTAT TTTATTTTATTTAT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar
SEPTIN5_chr22_19709503_19728319	19726677	G G	GGTGAGGA others(233): Show GGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTGGGGACGGTGAGGACG CTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGC GGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAG CTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGAC GGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	240	c.41 others(251): Show c.4193_*4194insGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTG GGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGA GGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTG GACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGA GGACGCTGTGGGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTG GACGCC		SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding					3359		chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26209975	G G	GAGGAAGG others(233): Show GAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGACAGGAAGGAAGGAAGGAA AGACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATA TGGGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAGGAGCAAAGAT AAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAGGGAAGGAAGG AAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0020 a0002c0002t0001g0021	2	240	0.0083	240	c.94+ others(257): Show c.94+40223_94+40224insGAGGAAGGAAGGGAGGGAGACAGGAAGG AAGGAAGGAAAGACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAA GATGCATATATGGGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAG GAGCAAAGATAAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAG GGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG AAGGAAGGAAGG		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SGCD_chr5_156322164_156772788	156549148	A A	ATTTTTTT others(233): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0012g0059 a0001c0001t0012g0060	2	150	0.0133	240	c.295 others(259): Show c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTTT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(233): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0047 a0001c0001t0065g0047	1	102	0.0098	240	c.39+ others(259): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAAT		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(233): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	360	0.0028	240	c.43 others(251): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGG CAGCCC		SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding					3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(233): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGC CCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	360	0.0028	240	c.43 others(251): Show c.4386_*4387insGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGG CAGCCC		SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding					3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(233): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTGCCAA CAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	360	0.0028	240	c.43 others(251): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAG		SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding					3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(233): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	360	0.0028	240	c.43 others(251): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGT CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAG		SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding					3686		chr2	TogoVar

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